Published in J Med Genet on June 01, 2007
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Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
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Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
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Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr (2001) 1.41
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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
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JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature (2010) 4.35
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
MicroRNA expression in the adult mouse central nervous system. RNA (2008) 3.12
Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nat Protoc (2007) 2.80
A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol Cell (2010) 2.77
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol (2005) 2.20
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
Single-molecule denaturation mapping of DNA in nanofluidic channels. Proc Natl Acad Sci U S A (2010) 2.13
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03
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A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance. J Med Genet (2009) 1.89
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A (2007) 1.80
CGHPRO -- a comprehensive data analysis tool for array CGH. BMC Bioinformatics (2005) 1.71
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
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Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A (2009) 1.55
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Jarid1b targets genes regulating development and is involved in neural differentiation. EMBO J (2011) 1.50
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome. Heart Rhythm (2004) 1.46
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet (2005) 1.45
New radiographic bone erosions in the wrists of patients with rheumatoid arthritis are detectable with magnetic resonance imaging a median of two years earlier. Arthritis Rheum (2003) 1.40
The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J (2006) 1.40
[The genetics of Gilles de la Tourette syndrome]. Ugeskr Laeger (2012) 1.39
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet (2005) 1.38
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. Am J Med Genet A (2008) 1.37
Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions. Genome Res (2007) 1.37
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet B Neuropsychiatr Genet (2012) 1.37
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol (2010) 1.35
Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing. Genome Res (2011) 1.34
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet (2007) 1.33
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat (2009) 1.32
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet (2010) 1.31
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet (2010) 1.29
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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet (2005) 1.25
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. Eur J Hum Genet (2009) 1.22
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr (2007) 1.22
Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro. Lung Cancer (2006) 1.18
Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum (2010) 1.18
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. Eur J Hum Genet (2004) 1.16
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A (2004) 1.15
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum Mutat (2005) 1.13
The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation. J Cell Sci (2009) 1.12
Recombinant Adeno-Associated Virus-Mediated microRNA Delivery into the Postnatal Mouse Brain Reveals a Role for miR-134 in Dendritogenesis in Vivo. Front Neural Circuits (2010) 1.12
Clinical expression of Menkes disease in females with normal karyotype. Orphanet J Rare Dis (2012) 1.11
YKL-40 protein expression in the early developing human musculoskeletal system. J Histochem Cytochem (2007) 1.10
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet (2005) 1.10
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care (2012) 1.10
The Eurocleft study: intercenter study of treatment outcome in patients with complete cleft lip and palate. Part 2: craniofacial form and nasolabial appearance. Cleft Palate Craniofac J (2005) 1.10
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Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A (2006) 1.09
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A (2012) 1.08
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1. Am J Med Genet A (2005) 1.05
Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am J Med Genet A (2008) 1.05
Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet (2010) 1.04
Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2). J Biol Chem (2010) 1.03
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet (2010) 1.03
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet (2006) 1.03
MRI quantification of rheumatoid arthritis: current knowledge and future perspectives. Eur J Radiol (2009) 1.01
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet (2011) 1.01
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet (2011) 1.01
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A (2006) 1.00
Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur J Med Genet (2007) 1.00
Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: A genetic analysis. Hum Pathol (2004) 0.99
Characterization of interstitial Xp duplications in two families by tiling path array CGH. Am J Med Genet A (2008) 0.99
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia (2013) 0.99
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A (2010) 0.98