rs766413410 in AGK gene and Overgrowth

PMID 22284826 2012 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 25208612 2014 Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 28868593 2017 Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

PMID 23266196 2013 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

rs121918608 in AHCY gene and Overgrowth

PMID 26527160 2015 Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

PMID 20852937 2010 S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PMID 26095522 2016 Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

PMID 22959829 2012 Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

PMID 16736098 2006 S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

rs778127154 in ALDH5A1 gene and Overgrowth

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

rs368820286 in ALDH7A1 gene and Overgrowth

PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PMID 19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

PMID 18762976 2009 Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PMID 17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

PMID 8913181 1996 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.

PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

PMID 16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.

rs767350733 in ALS2 gene and Overgrowth

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

PMID 1606479 1992 Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria.

PMID 12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

PMID 11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

rs1553245943 in ATP1A2 gene and Overgrowth

PMID 23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PMID 16344534 2005 Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

PMID 25138102 2015 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

PMID 16088919 2005 ATP1A2 mutations in 11 families with familial hemiplegic migraine.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 1361034 1992 A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

PMID 14667076 2003 Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

PMID 28811059 2017 An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

PMID 15286158 2004 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

PMID 15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

PMID 17473835 2007 First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

rs1557100594 in AVPR2 gene and Overgrowth

PMID 22427315 2012 Congenital nephrogenic diabetes insipidus: the current state of affairs.

PMID 18584216 2008 Long-term growth of children with nephrogenic diabetes insipidus.

PMID 15129813 2004 A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

PMID 22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

PMID 26077742 2015 Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

PMID 26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

PMID 10477148 1999 Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

PMID 20459358 2010 Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

rs1555202806 in BBS10 gene and Overgrowth

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs567573386 in BBS2 gene and Overgrowth

PMID 17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs1314314373 in BCL11B gene and Overgrowth

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

rs1554931219 in BDNF;BDNF-AS gene and Overgrowth

PMID 23044507 2012 Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

PMID 21567907 2011 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

PMID 11579207 2001 Conditional deletion of brain-derived neurotrophic factor in the postnatal brain leads to obesity and hyperactivity.

PMID 28397838 2018 Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

PMID 18753648 2008 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

PMID 19577647 2009 New insights into the role of brain-derived neurotrophic factor in synaptic plasticity.

rs80359636 in BRCA2 gene and Overgrowth

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 23628597 2013 Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PMID 18855126 2009 Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.

PMID 20587410 2010 Risk of breast cancer in male BRCA2 carriers.

PMID 19188187 2009 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

rs762904815 in BRPF1 gene and Overgrowth

PMID 27939639 2017 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

PMID 27939640 2017 Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

rs587777618 in CCND2 gene and Overgrowth

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

rs1555440555 in CHD2 gene and Overgrowth

PMID 28960266 2017 Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

PMID 25672921 2015 CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 17350655 2007 The Chd family of chromatin remodelers.

PMID 26754451 2016 Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25284784 2014 De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.

PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

PMID 22865819 2012 Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs1566446604 in CHD8 gene and Overgrowth

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

rs1553631770 in CTNNB1 gene and Overgrowth

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.

PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.

PMID 22682243 2012 Wnt/β-catenin signaling and disease.

PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.

PMID 15713948 2005 Wnt/beta-catenin pathway.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.

PMID 18334222 2008 Crystal structure of a full-length beta-catenin.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.

PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.

PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

rs1556220623 in CUL4B gene and Overgrowth

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

rs1555950665 in DDX3X;LOC105373184;LOC107985678 gene and Overgrowth

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 2563148 1989 Birth of the D-E-A-D box.

rs1554944527 in DEAF1 gene and Overgrowth

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs781469274 in DNAH5 gene and Overgrowth

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs757823678 in DNMT3A gene and Overgrowth

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

rs1554499814 in EZH2 gene and Overgrowth

PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PMID 9781912 1998 Weaver syndrome: autosomal dominant inheritance of the disorder.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

rs113001196 in FBN1 gene and Overgrowth

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

rs121918490 in FGFR2 gene and Overgrowth

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

rs558269137 in FLG;FLG-AS1 gene and Overgrowth

PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

rs587777308 in GABRA1 gene and Overgrowth

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 9126483 1997 Structure and organization of GABRB3 and GABRA5.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 24811917 2014 Copy number variation plays an important role in clinical epilepsy.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 22190369 2011 Rare copy number variants are an important cause of epileptic encephalopathies.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 16718694 2006 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

rs946006593 in GATAD2B gene and Overgrowth

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23644463 2013 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 26944241 2016 Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

rs758737171 in GCK gene and Overgrowth

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 15277402 2004 Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

PMID 21454522 2011 Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

PMID 27130141 2016 Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.

PMID 24890200 2014 Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.

rs1555891562 in GNAS gene and Overgrowth

PMID 8383205 1993 Imprinting in Albright's hereditary osteodystrophy.

PMID 27431290 2017 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PMID 17161328 2006 Mutations in the Gs alpha gene causing hormone resistance.

PMID 25802881 2015 A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

PMID 23884777 2013 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

PMID 11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PMID 18796523 2008 Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

PMID 10980525 2000 Activating and inactivating mutations in the human GNAS1 gene.

PMID 23281139 2013 Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

PMID 14561710 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

rs1276519904 in H3-3A gene and Overgrowth

PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.

PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 16472024 2009 Recognition and classification of histones using support vector machine.

PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 21782046 2011 The human histone H3 complement anno 2011.

rs387906309 in HEXA gene and Overgrowth

PMID 16199656 2005 ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 9073025 1997 Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

PMID 22025593 2011 Natural history of infantile G(M2) gangliosidosis.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

rs1553283037 in HNRNPU gene and Overgrowth

PMID 28393272 2017 Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

PMID 28944577 2017 De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

PMID 26845106 2016 Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

rs730882175 in KCNH1 gene and Overgrowth

PMID 25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 25711872 2015 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 18203178 2008 A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

PMID 23424202 2013 Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.

PMID 26818738 2016 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

PMID 9738473 1998 Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.

PMID 26264464 2015 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

rs773724817 in KCNH2 gene and Overgrowth

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 18835466 2008 Long QT Syndrome.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.

rs1555850868 in KCNQ2 gene and Overgrowth

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

rs781978013 in KMT2A gene and Overgrowth

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

rs1555186842 in KMT2D gene and Overgrowth

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

rs1555179320 in LOC105369689;ABCC9 gene and Overgrowth

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

rs387906788 in MAP3K1 gene and Overgrowth

PMID 12786760 2003 Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.

PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.

PMID 24135036 2014 Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

PMID 21129722 2010 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

PMID 22171599 2012 Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.

rs61752992 in MECP2 gene and Overgrowth

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 17351020 2007 MECP2 mutations in males.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

rs1555244216 in MED13L gene and Overgrowth

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

rs28940579 in MEFV gene and Overgrowth

PMID 15868622 2005 Arthritis as the sole episodic manifestation of familial Mediterranean fever.

PMID 22878273 2012 Familial Mediterranean fever: new phenotypes.

PMID 25760918 2016 Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

PMID 24424166 2014 Diagnostic criteria of familial Mediterranean fever.

PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.

PMID 11468188 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

PMID 20485448 2010 Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.

PMID 9668175 1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

PMID 4015155 1985 Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.

PMID 5340644 1967 Familial Mediterranean fever. A survey of 470 cases and review of the literature.

PMID 28386255 2017 Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.

rs1556836399 in MIR6895;KDM5C gene and Overgrowth

PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

rs1555801973 in MKKS gene and Overgrowth

PMID 26762677 2016 Genetics of human Bardet-Biedl syndrome, an updates.

PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

PMID 24608809 2014 Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

PMID 10465109 1999 Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

PMID 22090721 2011 McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.

rs977277400 in MYBPC3 gene and Overgrowth

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

rs111033178 in MYO7A gene and Overgrowth

PMID 9171833 1997 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

PMID 7870171 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PMID 8900236 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PMID 8776602 1996 A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

PMID 9382091 1997 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

PMID 9354784 1997 Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

PMID 18181211 2008 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

PMID 20132242 2010 Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 15221449 2004 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

PMID 21150918 2011 Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 17361009 2007 MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

rs786205208 in NEXMIF gene and Overgrowth

PMID 25900396 2015 Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

PMID 23615299 2013 Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 22531377 2012 Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 15466006 2004 Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.

PMID 27358180 2016 De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

PMID 26576034 2016 KIAA2022 nonsense mutation in a symptomatic female.

PMID 26290131 2015 X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

PMID 19524067 2009 Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

PMID 27568816 2017 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

rs1556039406 in NHS gene and Overgrowth

PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

rs34927195 in NLGN3 gene and Overgrowth

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 12669065 2003 Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

PMID 24570023 2014 Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.

PMID 15150161 2004 Disorder-associated mutations lead to functional inactivation of neuroligins.

rs797045865 in PAFAH1B1 gene and Overgrowth

PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 12668601 2003 Lissencephaly and the molecular basis of neuronal migration.

PMID 24862549 2014 The genetics of lissencephaly.

PMID 28440899 2017 Lissencephaly: Expanded imaging and clinical classification.

rs5030857 in PAH gene and Overgrowth

PMID 23514811 2013 Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

PMID 17443661 2007 The PAH gene, phenylketonuria, and a paradigm shift.

PMID 20188615 2010 Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.

PMID 8406445 1993 Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

PMID 9399896 1997 Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

PMID 18566668 2008 Phenylketonuria: an inborn error of phenylalanine metabolism.

PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.

PMID 14760268 2004 Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.

PMID 15665165 2005 Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.

PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

PMID 15171997 2004 The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 17410469 2007 Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

PMID 22965559 2013 Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 11328945 2001 Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.

PMID 11581453 2001 National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

PMID 11043162 2000 Mutation analysis anticipates dietary requirements in phenylketonuria.

rs1553897738 in PHOX2B gene and Overgrowth

PMID 12640453 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

PMID 15024693 2004 Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

PMID 16888290 2006 Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

PMID 28371199 2017 Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

rs1057519927 in PIK3CA gene and Overgrowth

PMID 16847462 2006 The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism.

PMID 27631024 2016 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

PMID 27870750 2017 Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community.

PMID 27426476 2017 CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 26593112 2016 "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 25557259 2015 PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

PMID 26301495 2015 In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.

PMID 17376864 2007 Rare cancer-specific mutations in PIK3CA show gain of function.

PMID 23246288 2013 Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

PMID 23754335 2013 Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

rs761532715 in PKDCC gene and Overgrowth

PMID 19097194 2009 Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).

PMID 23559552 2013 A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis.

PMID 25171405 2014 A secreted tyrosine kinase acts in the extracellular environment.

PMID 19465597 2009 The novel protein kinase Vlk is essential for stromal function of mesenchymal cells.

PMID 23792766 2013 The hedgehog target Vlk genetically interacts with Gli3 to regulate chondrocyte differentiation during mouse long bone development.

rs1057515572 in PMS2 gene and Overgrowth

PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1554708787 in PTCH1 gene and Overgrowth

PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.

PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.

PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

rs1060500126 in PTEN gene and Overgrowth

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

rs1555565243 in RAI1 gene and Overgrowth

PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

rs1553549717 in SCN1A;SCN1A-AS1 gene and Overgrowth

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

PMID 15880351 2005 SCN1A mutations and epilepsy.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

PMID 16430863 2006 Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 15508915 2005 Severe myoclonic epilepsy in infancy: Dravet syndrome.

PMID 21269283 2011 Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

PMID 22719002 2012 Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

PMID 9126059 1997 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 24097157 2014 Structure and function of voltage-gated sodium channels at atomic resolution.

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

PMID 21463290 2011 Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

PMID 19400878 2009 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

rs1553479216 in SCN9A;SCN1A-AS1 gene and Overgrowth

PMID 9037087 1997 Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons.

PMID 14985375 2004 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

PMID 17679678 2007 Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

PMID 21118538 2010 Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.

PMID 15958509 2005 Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

PMID 21698661 2012 Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

PMID 12210380 2002 Small-fiber neuropathy.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

PMID 23895530 2013 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

PMID 17167479 2006 An SCN9A channelopathy causes congenital inability to experience pain.

PMID 16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

PMID 23596073 2013 Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.

PMID 16702558 2006 A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.

PMID 17597096 2007 A stop codon mutation in SCN9A causes lack of pain sensation.

PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PMID 19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 15929046 2005 Erythromelalgia: a hereditary pain syndrome enters the molecular era.

PMID 8610490 1995 Idiopathic distal small fiber neuropathy.

PMID 18524793 2008 The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology.

PMID 27504264 2016 Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

PMID 27413160 2016 Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

rs142441643 in SDHA gene and Overgrowth

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 28384794 2017 Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

rs1555100954 in SHANK2 gene and Overgrowth

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.

PMID 20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

PMID 28326932 2017 A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.

PMID 25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.

PMID 22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

PMID 27001614 2016 Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

PMID 25188300 2014 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PMID 27903723 2016 Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.

rs1553156053 in SLC2A1 gene and Overgrowth

PMID 26304067 2015 Mutational and functional analysis of Glucose transporter I deficiency syndrome.

PMID 26336901 2016 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

PMID 24963779 2014 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 23306390 2013 The role of SLC2A1 in early onset and childhood absence epilepsies.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 26537434 2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 23443458 2013 Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 1714544 1991 Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 12752470 2003 Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 10766892 2000 A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

rs774152851 in SNORD9;CHD8 gene and Overgrowth

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs1554777919 in STXBP1 gene and Overgrowth

PMID 25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 26537360 2016 Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

PMID 9545644 1998 Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

PMID 27184330 2016 Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

PMID 25621899 2015 Whole-genome sequencing of quartet families with autism spectrum disorder.

PMID 22722545 2012 Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 17301226 2007 Munc18-1 binds directly to the neuronal SNARE complex.

PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

PMID 23409955 2013 Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 16806828 2006 A new paradigm for West syndrome based on molecular and cell biology.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 18469812 2008 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

PMID 19557857 2009 De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 21762454 2011 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

PMID 21204804 2010 STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

PMID 21062273 2011 Paternal mosaicism of an STXBP1 mutation in OS.

PMID 21770924 2011 Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

PMID 20876469 2010 Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

PMID 21364700 2011 Intellectual disability without epilepsy associated with STXBP1 disruption.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

rs1247427997 in TMCO1 gene and Overgrowth

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

rs1554062562 in TRIO gene and Overgrowth

PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.

PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.

rs1555625571 in TUBB3 gene and Overgrowth

PMID 25482575 2015 A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

PMID 23378218 2013 A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

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