Published in Genet Med on August 15, 2002
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet (2007) 2.35
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet (2008) 2.16
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. Am J Hum Genet (2007) 2.07
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics (2006) 2.03
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02
Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A (2009) 1.93
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet (2006) 1.85
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet (2005) 1.79
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet (2010) 1.60
Adverse birth outcome among mothers with low serum cholesterol. Pediatrics (2007) 1.58
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet (2010) 1.52
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. Am J Med Genet A (2011) 1.51
Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet (2012) 1.50
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet (2003) 1.45
Economic evaluation of a neural tube defect recurrence-prevention program. Am J Prev Med (2008) 1.42
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics (2007) 1.42
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet (2012) 1.36
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A (2005) 1.35
AGTR2 mutations in X-linked mental retardation. Science (2002) 1.34
ECC-1 cells: a well-differentiated steroid-responsive endometrial cell line with characteristics of luminal epithelium. Biol Reprod (2006) 1.33
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet (2005) 1.32
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet (2002) 1.27
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet (2011) 1.23
Developing a sustainable process to provide quality control materials for genetic testing. Genet Med (2005) 1.23
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet (2008) 1.21
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet (2012) 1.16
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A (2011) 1.14
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab (2007) 1.13
Fragile X syndrome detection in newborns-pilot study. Genet Med (2008) 1.12
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet (2009) 1.11
Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A (2011) 1.10
Ethical issues in genetic counseling: a comparison of M.S. counselor and medical geneticist perspectives. J Genet Couns (1992) 1.08
Evaluation of urovysion and cytology for bladder cancer detection: a study of 1835 paired urine samples with clinical and histologic correlation. Cancer Cytopathol (2013) 1.08
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genet Med (2013) 1.07
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet (2006) 1.06
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet (2002) 1.04
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet (2014) 1.03
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci U S A (2011) 1.03
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet (2002) 1.02
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med (2009) 1.00
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet (2011) 0.99
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet (2004) 0.99
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet A (2008) 0.97
Decreased tryptophan metabolism in patients with autism spectrum disorders. Mol Autism (2013) 0.97
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. Genome Res (2007) 0.96
Natural history of Christianson syndrome. Am J Med Genet A (2010) 0.96
Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med (2006) 0.95
Gastroschisis: clinical presentation and associations. Am J Med Genet C Semin Med Genet (2008) 0.94
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. Pediatr Res (2003) 0.93
Fluorescence in situ hybridization for detecting transitional cell carcinoma: implications for clinical practice. BJU Int (2005) 0.93
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet A (2008) 0.93
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. Am J Med Genet A (2011) 0.92
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet (2005) 0.92
Spontaneous ovarian tumors in twelve baboons: a review of ovarian neoplasms in non-human primates. J Med Primatol (2003) 0.91
Utility of Interphase FISH Panels for Routine Clinical Cytogenetic Evaluation of Chronic Lymphocytic Leukemia and Multiple Myeloma. J Assoc Genet Technol (2004) 0.89
Balanced information about Down syndrome: what is essential? Am J Med Genet A (2011) 0.89
HER2 testing: a review of detection methodologies and their clinical performance. Expert Rev Mol Diagn (2007) 0.89
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet A (2006) 0.88
Expansion of the deletion 13q syndrome phenotype: a case report. J Child Neurol (2007) 0.88
Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen. J Mol Diagn (2006) 0.88
Growth in Phelan-McDermid syndrome. Am J Med Genet A (2011) 0.88
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet (2012) 0.87
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing. Expert Rev Mol Diagn (2014) 0.87
HER-2 fluorescence in situ hybridization: results from the survey program of the College of American Pathologists. Arch Pathol Lab Med (2006) 0.87
Long term maintenance of neural tube defects prevention in a high prevalence state. J Pediatr (2011) 0.86
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Neurogenetics (2007) 0.86
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. Eur J Hum Genet (2011) 0.86
The impact of spermine synthase (SMS) mutations on brain morphology. Neurogenetics (2009) 0.85
Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol (2008) 0.85
Altered promoter usage characterizes monoallelic transcription arising with ERBB2 amplification in human breast cancers. Genes Chromosomes Cancer (2006) 0.85
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. Am J Med Genet A (2014) 0.83
Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus. Eur J Hum Genet (2008) 0.82
Maternal obesity, folate intake, and neural tube defects in offspring. Birth Defects Res A Clin Mol Teratol (2013) 0.82
Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood. Am J Med Genet C Semin Med Genet (2015) 0.82
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet (2005) 0.82
Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. Prenat Diagn (2002) 0.82
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol (2011) 0.82
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. Am J Med Genet A (2010) 0.82
Screening for down syndrome in the United States: results of surveys in 2011 and 2012. Arch Pathol Lab Med (2013) 0.81
Trisomy 16 in a pigtailed macaque (M. nemestrina) with multiple anomalies and developmental delays. Am J Ment Retard (2004) 0.81
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis. Arch Pathol Lab Med (2011) 0.80
The utility of fluorescence in situ hybridization (FISH) analysis in diagnosing graft versus host disease following orthotopic liver transplant. Ann Clin Lab Sci (2011) 0.80
Shashi XLMR syndrome: report of a second family. Am J Med Genet A (2003) 0.80
The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 cases. Am J Med Genet A (2014) 0.80
Characterization of a human import component of the mitochondrial outer membrane, TOMM70A. Cell Commun Adhes (2002) 0.80
Validation of fluorescence in situ hybridization using an analyte-specific reagent for detection of abnormalities involving the mixed lineage leukemia gene. Arch Pathol Lab Med (2012) 0.80