Published in Am J Med Genet A on June 15, 2007
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol (2009) 2.54
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet (2009) 2.14
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol (2011) 1.77
Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet (2009) 1.68
On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci (2009) 1.44
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat (2013) 1.39
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet (2014) 1.16
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry (2013) 1.12
Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet (2007) 1.08
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res (2009) 1.01
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur J Hum Genet (2012) 0.98
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A (2011) 0.97
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A (2010) 0.93
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet (2014) 0.93
Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A (2012) 0.92
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet (2011) 0.92
Nipbl and mediator cooperatively regulate gene expression to control limb development. PLoS Genet (2014) 0.92
Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity. J Autism Dev Disord (2011) 0.85
Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior. PLoS Genet (2015) 0.84
Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts. Cell Death Dis (2013) 0.83
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res (2012) 0.82
Oxidative stress in aging: advances in proteomic approaches. Oxid Med Cell Longev (2014) 0.81
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet (2013) 0.80
Three-dimensional ultrasound findings in cornelia de lange syndrome: a case report. Case Rep Obstet Gynecol (2012) 0.80
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual. BMC Med Genet (2012) 0.79
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome. Int J Mol Sci (2014) 0.79
Eyelash trichomegaly following treatment with erlotinib in a non-small cell lung cancer patient: A case report and literature review. Oncol Lett (2015) 0.78
The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. Am J Med Genet A (2010) 0.77
A neural crest origin for cohesinopathy heart defects. Hum Mol Genet (2015) 0.77
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. J Appl Genet (2012) 0.76
Immunologic features of Cornelia de Lange syndrome. Pediatrics (2013) 0.76
Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol (2015) 0.76
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med (2013) 0.76
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. Am J Med Genet C Semin Med Genet (2016) 0.75
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. Biomed Res Int (2016) 0.75
Intellectual Disability: When the Hypertrichosis Is a Clue. J Pediatr Genet (2015) 0.75
Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits. J Pediatr Genet (2015) 0.75
Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome. Surg Neurol Int (2015) 0.75
Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. Ann Lab Med (2015) 0.75
Cornelia de Lange syndrome. Indian J Endocrinol Metab (2013) 0.75
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome. Int J Mol Sci (2017) 0.75
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. Case Rep Genet (2012) 0.75
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls. Epigenetics (2014) 0.75
Aberrant course of the umbilical vein in a newborn with Cornelia de Lange syndrome. Pediatr Radiol (2009) 0.75
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance. J Neurodev Disord (2017) 0.75
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. Am J Med Genet C Semin Med Genet (2016) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet (2006) 3.89
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet (2006) 3.55
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
Correlation between retinal abnormalities and intracranial abnormalities in the shaken baby syndrome. Am J Ophthalmol (2002) 2.75
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet (2004) 2.67
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Procedural risks versus theology: chorionic villus sampling for Orthodox Jews at less than 8 weeks' gestation. Am J Obstet Gynecol (2002) 2.56
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23
Guidelines for postmortem protocol for ocular investigation of sudden unexplained infant death and suspected physical child abuse. Am J Forensic Med Pathol (2007) 2.20
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation (2004) 2.17
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet (2006) 2.17
The challenges to ophthalmologic follow-up care in at-risk pediatric populations. J AAPOS (2013) 2.17
Fine tuning of craniofacial morphology by distant-acting enhancers. Science (2013) 2.16
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet (2002) 2.13
Mutations in the chromatin-associated protein ATRX. Hum Mutat (2008) 2.12
Intact fetal cells in maternal plasma: are they really there? Lancet (2003) 2.09
Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet (2010) 2.06
Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A (2012) 2.05
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A (2003) 1.94
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Retinal hemorrhages in type I osteogenesis imperfecta after minor trauma. Ophthalmology (2004) 1.73
Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet (2002) 1.73
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
Enhancer-adoption as a mechanism of human developmental disease. Hum Mutat (2011) 1.70
Cohesin and human disease. Annu Rev Genomics Hum Genet (2008) 1.68
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet (2003) 1.67
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet (2009) 1.66
Retinal findings in children with intracranial hemorrhage. Ophthalmology (2002) 1.65
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Evaluating the quality of care provided by graduates of international medical schools. Health Aff (Millwood) (2010) 1.58
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol (2004) 1.53
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A (2005) 1.53
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. Am J Med Genet A (2007) 1.52
Variant detection sensitivity and biases in whole genome and exome sequencing. BMC Bioinformatics (2014) 1.52
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation (2002) 1.51
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51
Parental comprehension following informed consent for pediatric cataract surgery. Can J Ophthalmol (2012) 1.50
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49
On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci (2009) 1.44
Macular cysts in retinal dystrophy. Curr Opin Ophthalmol (2011) 1.43
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. Am J Med Genet (2002) 1.42
Complications in infants undergoing surgery for congenital cataract in the first 12 weeks of life: is early surgery better? J AAPOS (2003) 1.41
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet (2011) 1.41
NOTCH2 mutations in Alagille syndrome. J Med Genet (2011) 1.40
Finite element model of ocular injury in abusive head trauma. J AAPOS (2009) 1.40
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A (2011) 1.39
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat (2013) 1.39
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour. Hum Mol Genet (2006) 1.38
The Ahmed drainage implant in the treatment of pediatric glaucoma. Am J Ophthalmol (2003) 1.35
Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology (2011) 1.33
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat (2009) 1.32
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis (2011) 1.32
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A (2010) 1.26
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Digital PCR: a powerful new tool for noninvasive prenatal diagnosis? Prenat Diagn (2008) 1.24
Retinal haemorrhage in abusive head trauma. Clin Experiment Ophthalmol (2010) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report. Am J Med Genet B Neuropsychiatr Genet (2013) 1.16
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A (2012) 1.15
Early postoperative refractive outcomes of pediatric intraocular lens implantation. J Cataract Refract Surg (2004) 1.15
Glued patches for children resistant to amblyopia occlusion therapy. Arch Ophthalmol (2008) 1.14
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A (2005) 1.14
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat (2011) 1.12
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci (2004) 1.12
Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures. Am J Med Genet A (2013) 1.11
Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. Am J Med Genet A (2009) 1.10
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet (2012) 1.10
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol (2006) 1.09
Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet (2007) 1.08
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J AAPOS (2008) 1.08
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat (2009) 1.08
Ophthalmologic findings in the Cornelia de Lange Syndrome. J AAPOS (2005) 1.08
Genetics for the ophthalmologist. Oman J Ophthalmol (2012) 1.07