Published in Hum Mol Genet on May 07, 2010
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci (2013) 2.24
Disruptive CHD8 mutations define a subtype of autism early in development. Cell (2014) 2.05
The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. Nucleic Acids Res (2013) 1.01
Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome. Hum Mol Genet (2010) 1.00
Xenopus: An emerging model for studying congenital heart disease. Birth Defects Res A Clin Mol Teratol (2011) 0.89
The tumor suppressor Chd5 is induced during neuronal differentiation in the developing mouse brain. Gene Expr Patterns (2013) 0.86
Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. Nat Neurosci (2016) 0.83
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol (2011) 0.83
Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PLoS One (2012) 0.82
Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases. Stem Cells Dev (2015) 0.81
Epigenetic Developmental Disorders: CHARGE syndrome, a case study. Curr Genet Med Rep (2015) 0.79
Influenza Virus and Chromatin: Role of the CHD1 Chromatin Remodeler in the Virus Life Cycle. J Virol (2016) 0.78
The chromatin Remodeler CHD8 is required for activation of progesterone receptor-dependent enhancers. PLoS Genet (2015) 0.78
Guilty as CHARGED: p53's expanding role in disease. Cell Cycle (2014) 0.77
Chromatin deregulation in disease. Chromosoma (2015) 0.76
Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme. Nat Commun (2017) 0.75
[Choroid-retinal coloboma and unusual facial features in a 16-year-old girl]. Ophthalmologe (2013) 0.75
Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease. Front Mol Neurosci (2017) 0.75
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol (2010) 2.42
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet (2007) 2.04
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Eur J Med Genet (2008) 1.77
Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat (2012) 1.74
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse. Hum Mol Genet (2002) 1.45
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet (2011) 1.40
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet (2005) 1.32
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat (2010) 1.31
Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet (2004) 1.31
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. Hum Mutat (2008) 1.31
Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology (2012) 1.22
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin Cancer Res (2011) 1.22
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab (2003) 1.20
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci (2009) 1.20
Reduction of spermatogenesis but not fertility in Creb3l4-deficient mice. Mol Cell Biol (2005) 1.20
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.18
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat (2004) 1.13
Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study. BMC Musculoskelet Disord (2013) 1.13
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat (2008) 1.11
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet (2010) 1.11
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet (2007) 1.08
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet (2003) 1.07
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A (2008) 1.07
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet (2010) 1.07
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat (2012) 1.06
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet (2002) 1.05
Identification of virulence genes in the corn pathogen Colletotrichum graminicola by Agrobacterium tumefaciens-mediated transformation. Mol Plant Pathol (2011) 1.05
SPAG4L/SPAG4L-2 are testis-specific SUN domain proteins restricted to the apical nuclear envelope of round spermatids facing the acrosome. Mol Hum Reprod (2010) 1.04
Outer dense fibre protein 2 (ODF2) is a self-interacting centrosomal protein with affinity for microtubules. J Cell Sci (2004) 1.03
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat (2007) 1.03
The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A (2010) 1.03
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
Disruption of the pelota gene causes early embryonic lethality and defects in cell cycle progression. Mol Cell Biol (2003) 1.00
Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J Neurol (2003) 0.99
Mutation analysis in patients with N-acetylglutamate synthase deficiency. Hum Mutat (2003) 0.99
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet (2012) 0.99
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat (2006) 0.97
The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab (2012) 0.97
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol (2011) 0.96
Outcome of ABCA4 microarray screening in routine clinical practice. Mol Vis (2009) 0.95
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat (2003) 0.95
Molecular dissection of ODF2/Cenexin revealed a short stretch of amino acids necessary for targeting to the centrosome and the primary cilium. Eur J Cell Biol (2008) 0.95
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A (2009) 0.95
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet (2008) 0.94
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis (2013) 0.93
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet (2014) 0.93
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology (2013) 0.92
Hearing loss and connexin 26. J R Soc Med (2002) 0.92
Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). Am J Med Genet A (2006) 0.92
Phenotype description of a novel DFNA9/COCH mutation, I109T. Ann Otol Rhinol Laryngol (2007) 0.91
The small heat shock protein ODF1/HSPB10 is essential for tight linkage of sperm head to tail and male fertility in mice. Mol Cell Biol (2011) 0.90
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. J Pediatr (2011) 0.89
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab (2003) 0.88
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet (2011) 0.88
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. Am J Med Genet A (2010) 0.87
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochim Biophys Acta (2005) 0.87
Molecular cloning of Odf3 encoding a novel coiled-coil protein of sperm tail outer dense fibers. Mol Reprod Dev (2002) 0.86
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Hum Mutat (2015) 0.86
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol Vis (2011) 0.86
The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet (2013) 0.86
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. Arch Ophthalmol (2012) 0.86
Pelota interacts with HAX1, EIF3G and SRPX and the resulting protein complexes are associated with the actin cytoskeleton. BMC Cell Biol (2010) 0.86
Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? Mol Cytogenet (2012) 0.86
Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat (2008) 0.84
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A (2012) 0.84
Acute onset of adult Alexander disease. J Neurol Sci (2013) 0.84
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Hum Mutat (2014) 0.84
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis. Nephrol Dial Transplant (2013) 0.83
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol (2005) 0.83
Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins. Pharmacogenomics (2014) 0.82
Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PLoS One (2012) 0.82
Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiol Neurootol (2006) 0.82
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant. Am J Med Genet A (2008) 0.82
Congenital T cell deficiency in a patient with CHARGE syndrome. J Pediatr (2009) 0.81
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. Gene (2013) 0.81
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. Am J Med Genet A (2014) 0.80
Chromosomal region 11p15 is associated with male factor subfertility. Mol Hum Reprod (2003) 0.80
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. Clin Neuropathol (2014) 0.80
P-Glycoprotein-Mediated Drug Interactions in Pregnancy and Changes in the Risk of Congenital Anomalies: A Case-Reference Study. Drug Saf (2015) 0.80
Distal femoral duplication and fibular agenesis associated with congenital cardiac defect. Indian J Pediatr (2009) 0.80
Phenotypes of two Dutch DFNA3 families with mutations in GJB2. Ann Otol Rhinol Laryngol (2011) 0.79
Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause. J Clin Endocrinol Metab (2014) 0.79
Pax6 controls centriole maturation in cortical progenitors through Odf2. Cell Mol Life Sci (2014) 0.79
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet (2013) 0.79
TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. J Hum Genet (2009) 0.79
Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics. J Dev Phys Disabil (2009) 0.77