Published in J Pediatr on March 01, 2006
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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A (2010) 1.82
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome (2007) 1.58
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet (2009) 1.26
Chromodomain proteins in development: lessons from CHARGE syndrome. Clin Genet (2010) 0.95
Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers (2010) 0.93
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet (2014) 0.93
Epigenetic mechanisms in cardiac development and disease. Acta Biochim Biophys Sin (Shanghai) (2012) 0.93
Role of Chd7 in zebrafish: a model for CHARGE syndrome. PLoS One (2012) 0.92
Histone methylations in heart development, congenital and adult heart diseases. Epigenomics (2015) 0.91
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. PLoS One (2011) 0.91
Xenopus: An emerging model for studying congenital heart disease. Birth Defects Res A Clin Mol Teratol (2011) 0.89
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. Neurotherapeutics (2015) 0.85
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur J Pediatr (2010) 0.84
Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PLoS One (2012) 0.82
CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol (2014) 0.81
Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase. BMC Res Notes (2010) 0.79
Epigenetic Developmental Disorders: CHARGE syndrome, a case study. Curr Genet Med Rep (2015) 0.79
Deletion of the Chd6 exon 12 affects motor coordination. Mamm Genome (2010) 0.79
Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome. Ann Lab Med (2014) 0.77
A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. Meta Gene (2014) 0.76
Outcomes of long-term audiological rehabilitation in charge syndrome. Acta Otorhinolaryngol Ital (2016) 0.75
Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome. Mol Syndromol (2010) 0.75
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome. Clin Pediatr Endocrinol (2014) 0.75
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. BMC Med Genet (2015) 0.75
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007. Eur J Med Genet (2014) 0.75
Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion. Balkan J Med Genet (2015) 0.75
Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. Int J Reprod Biomed (Yazd) (2016) 0.75
Effect of long-term GH treatment in a patient with CHARGE association. Ital J Pediatr (2014) 0.75
Unilateral ectopic parotid gland in CHARGE syndrome. Pediatr Radiol (2012) 0.75
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00
Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet (2005) 4.47
Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche. Cell Stem Cell (2007) 4.31
Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res (2005) 4.25
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet (2007) 2.77
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75
Peroxisome proliferator-activated receptor alpha protects against alcohol-induced liver damage. Hepatology (2004) 2.40
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. J Infect Dis (2007) 1.85
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83
Methylation and gene silencing of the Ras-related GTPase gene in lung and breast cancers. Ann Surg Oncol (2006) 1.79
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab (2007) 1.75
Community engagement and informed consent in the International HapMap project. Community Genet (2007) 1.73
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet (2013) 1.71
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab (2002) 1.66
The RNA-binding protein HuD regulates neuronal cell identity and maturation. Proc Natl Acad Sci U S A (2005) 1.66
Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab (2007) 1.65
Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol (2007) 1.58
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab (2004) 1.55
Polymorphisms, mutations, and amplification of the EGFR gene in non-small cell lung cancers. PLoS Med (2007) 1.52
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertil Steril (2004) 1.52
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab (2004) 1.51
Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J Clin Endocrinol Metab (2005) 1.50
Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway. Proc Natl Acad Sci U S A (2012) 1.50
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A (2009) 1.47
Complete mutation analysis panel of the 39 human HOX genes. Teratology (2002) 1.47
Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk. Clin Ther (2010) 1.43
DHPLC is superior to SSCP in screening p53 mutations in esophageal cancer tissues. Int J Cancer (2005) 1.40
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients. Horm Res Paediatr (2013) 1.40
Retracted Methylation of apoptosis related genes in the pathogenesis and prognosis of prostate cancer. Cancer Lett (2006) 1.40
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
Genitourinary anomaly in congenital varicella syndrome: case report and review. Pediatr Nephrol (2004) 1.38
KDM6A point mutations cause Kabuki syndrome. Hum Mutat (2012) 1.35
Aberrant methylation of trail decoy receptor genes is frequent in multiple tumor types. Int J Cancer (2004) 1.32
BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A (2006) 1.30
A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12. J Hum Genet (2006) 1.30
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci (2008) 1.28
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
Retracted Aberrant methylation profile of human malignant mesotheliomas and its relationship to SV40 infection. Oncogene (2005) 1.25
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med (2005) 1.25
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab (2004) 1.24
Efficacy and immunologic responses to influenza vaccine in HIV-1-infected patients. J Acquir Immune Defic Syndr (2005) 1.22
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab (2010) 1.22
Usefulness and cost effectiveness of cardiovascular screening of young adolescents. Med Sci Sports Exerc (2006) 1.22
Aberrant methylation of HIN-1 (high in normal-1) is a frequent event in many human malignancies. Int J Cancer (2005) 1.21
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Common variants in CASP3 confer susceptibility to Kawasaki disease. Hum Mol Genet (2010) 1.20
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Retracted Aberrant methylation of heparan sulfate glucosamine 3-O-sulfotransferase 2 genes as a biomarker in colorectal cancer. Anticancer Res (2010) 1.18
Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am J Med Genet (2002) 1.18
Very low pandemic influenza A (H1N1) 2009 mortality associated with early neuraminidase inhibitor treatment in Japan: analysis of 1000 hospitalized children. J Infect (2011) 1.17
Standardized centile curves of body mass index for Japanese children and adolescents based on the 1978-1981 national survey data. Ann Hum Biol (2006) 1.16
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet (2012) 1.16
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A (2006) 1.14
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J Clin Endocrinol Metab (2006) 1.13
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis (2013) 1.12
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) (2004) 1.12
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J Hum Genet (2005) 1.09
Attitudes toward non-invasive prenatal diagnosis among pregnant women and health professionals in Japan. Prenat Diagn (2012) 1.09
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr J (2006) 1.09
Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis. J Hum Genet (2002) 1.08
Size distribution of retrovirally marked lineages matches prediction from population measurements of cell cycle behavior. J Neurosci Res (2002) 1.08
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab (2009) 1.08
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet A (2006) 1.08
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet (2004) 1.08