Published in Clin Genet on June 06, 2014
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med (2015) 1.22
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs (2015) 0.90
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. J Neurodev Disord (2016) 0.77
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. Mol Genet Metab Rep (2015) 0.76
Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis. J Biol Chem (2016) 0.76
Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells. Chem Res Toxicol (2016) 0.76
Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor. Redox Biol (2017) 0.75
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. Pharmacogenomics J (2016) 0.75
Novel mutations in PDE6B causing human retinitis pigmentosa. Int J Ophthalmol (2016) 0.75
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. Prenat Diagn (2017) 0.75
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data. Mol Genet Metab Rep (2017) 0.75
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med (2016) 0.75
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. Am J Med Genet A (2016) 0.75
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. Pflugers Arch (2016) 0.75
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol (2004) 9.00
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
The Smith-Lemli-Opitz syndrome. J Med Genet (2000) 3.05
SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Bioinformatics (2008) 2.40
Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res (2010) 1.88
Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet (1980) 1.45
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Genet Metab (2001) 1.28
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis (2007) 1.20
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet (2001) 1.09
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? Am J Med Genet A (2006) 1.09
Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet (2012) 1.00
Prenatal death in Smith-Lemli-Opitz/RSH syndrome. Am J Med Genet A (2005) 0.86
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. Eur J Pediatr (2013) 0.84
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis (2014) 0.84
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. Clin Genet (2013) 0.81
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. Mol Syndromol (2012) 0.79
Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science (1996) 5.06
A more powerful robust sib-pair test of linkage for quantitative traits. Genet Epidemiol (1989) 4.17
Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A (1998) 3.35
Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice. Proc Natl Acad Sci U S A (1997) 3.27
Evidence for mendelian inheritance in the pathogenesis of lung cancer. J Natl Cancer Inst (1990) 2.72
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet (2001) 2.56
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County. Genome Res (1998) 2.41
Consent for publication of a case report. Anaesthesia (2004) 2.33
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet (1997) 2.28
Autism as a disorder of neural information processing: directions for research and targets for therapy. Mol Psychiatry (2004) 2.19
Considerations for a multiaxis nomenclature system for medical genetics. Genet Med (2001) 2.15
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet (1998) 2.10
A dual technique for identification of the epidural space. Anaesthesia (1997) 2.04
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet (2000) 1.99
Characterization of short tandem repeats from thirty-one human telomeres. Genome Res (1997) 1.96
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest (2000) 1.93
Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway. Neuron (2001) 1.89
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84
Autosomal dominant transmission of the Pallister-Hall syndrome. J Pediatr (1993) 1.83
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology (2010) 1.78
Bipolar disorder: evidence for a major locus. Am J Med Genet (1995) 1.73
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci U S A (1999) 1.63
The LIM homeobox gene Lhx9 is essential for mouse gonad formation. Nature (2000) 1.61
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry (2010) 1.61
Mercuric reductase enzyme from a mercury-volatilizing strain of Thiobacillus ferrooxidans. J Bacteriol (1982) 1.61
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Hum Mol Genet (2001) 1.60
Pluripotent hematopoietic stem cells contain high levels of mRNA for c-kit, GATA-2, p45 NF-E2, and c-myb and low levels or no mRNA for c-fms and the receptors for granulocyte colony-stimulating factor and interleukins 5 and 7. Proc Natl Acad Sci U S A (1995) 1.58
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet (2001) 1.55
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Am J Med Genet (2001) 1.51
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem (1999) 1.50
LIM-homeodomain gene Lhx2 regulates the formation of the cortical hem. Mech Dev (2001) 1.49
Sudden death caused by pulmonary thromboembolism in Proteus syndrome. Clin Genet (2000) 1.44
Hypogonadism and obesity in mice with a targeted deletion of the Nhlh2 gene. Nat Genet (1997) 1.41
Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet (1993) 1.40
Linkage heterogeneity for the IBD1 locus in Crohn's disease pedigrees by disease onset and severity. Gastroenterology (2000) 1.40
Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China. Am J Hum Genet (2000) 1.37
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet (2000) 1.37
Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations. J Med Genet (2004) 1.33
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Hum Genet (1996) 1.33
Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clin Genet (2013) 1.31
Increased familial risk for lung cancer. J Natl Cancer Inst (1986) 1.30
Research Units on Pediatric Psychopharmacology (RUPP) Autism Network. Background and rationale for an initial controlled study of risperidone. Child Adolesc Psychiatr Clin N Am (2000) 1.29
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet (1995) 1.28
Molecular characterization of a cluster of at least two glucosyltransferase genes in Streptococcus salivarius ATCC 25975. J Gen Microbiol (1991) 1.25
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. J Med Genet (2005) 1.22
Using high-throughput SNP technologies to study cancer. Oncogene (2006) 1.21
Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet (2012) 1.20
A community-wide outbreak of hepatitis A in a religious community: impact of mass administration of immune globulin. Am J Epidemiol (1990) 1.18
Downstaging of colorectal cancer by the National Bowel Cancer Screening programme in England: first round data from the first centre. Colorectal Dis (2009) 1.17
Consanguineous matings in an Israeli-Arab community. Arch Pediatr Adolesc Med (1994) 1.16
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet (2002) 1.14
Unfolding the role of chaperones and chaperonins in human disease. Trends Genet (2001) 1.14
Comparison of sib-pair and variance-components methods for genomic screening. Genet Epidemiol (1997) 1.13
Social impairments in Rett syndrome: characteristics and relationship with clinical severity. J Intellect Disabil Res (2011) 1.11
Physicians' participatory decision-making and quality of diabetes care processes and outcomes: results from the triad study. Chronic Illn (2009) 1.11
Homology among arsenate resistance determinants of R factors in Escherichia coli. Antimicrob Agents Chemother (1984) 1.11
Strike three for GLI3. Nat Genet (1997) 1.10
PTEN mutations and proteus syndrome. Lancet (2001) 1.09
A chloroplast transcript lacking the 3' inverted repeat is degraded by 3'-->5' exoribonuclease activity. RNA (1996) 1.07
Segregation analysis of smoking-associated malignancies: evidence for Mendelian inheritance. Am J Med Genet (1994) 1.06
Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources. Am J Med Genet (1999) 1.06
Assessment in multisite randomized clinical trials of patients with autistic disorder: the Autism RUPP Network. Research Units on Pediatric Psychopharmacology. J Autism Dev Disord (2000) 1.06
Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex. Mech Dev (1999) 1.06
Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet (2001) 1.05
Selection for mercurial resistance in hospital settings. Antimicrob Agents Chemother (1982) 1.04
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet (2000) 1.02
Segregation analysis of hereditary nonpolyposis colorectal cancer. Genet Epidemiol (1986) 1.01
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA (1995) 0.99
Increased familial risk for non-lung cancer among relatives of lung cancer patients. Am J Epidemiol (1987) 0.99
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. Neuroscience (2010) 0.97
Sequence of the gtfK gene of Streptococcus salivarius ATCC 25975 and evolution of the gtf genes of oral streptococci. J Gen Microbiol (1993) 0.97
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Clin Genet (2000) 0.95
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. Am J Med Genet (2001) 0.95
Smith-Lemli-Opitz syndrome. J Am Acad Child Adolesc Psychiatry (2001) 0.94
Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab (2001) 0.94
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet (2001) 0.93
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. Am J Med Genet (2000) 0.93
Population isolates in South Tyrol and their value for genetic dissection of complex diseases. Ann Hum Genet (2006) 0.92
Genetic and physical mapping of the McKusick-Kaufman syndrome. Hum Mol Genet (1998) 0.92
The transmission/disequilibrium test for linkage on the X chromosome. Am J Hum Genet (2000) 0.90
Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: a meta-analysis. Am J Med Genet (1999) 0.90
Stepwise oligogenic segregation and linkage analysis illustrated with dopamine-beta-hydroxylase activity. Am J Med Genet (1990) 0.90
A general assay for antibody catalysis using acridone as a fluorescent tag. Proc Natl Acad Sci U S A (1996) 0.89
Methodological issues in designing a multisite trial of risperidone in children and adolescents with autism. J Child Adolesc Psychopharmacol (2001) 0.89
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. Mol Psychiatry (2011) 0.89
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J Med Genet (1997) 0.89
Separation and identification of two phosphatidylinositol 4-kinase activities in bovine uterus. Biochem Biophys Res Commun (1989) 0.88
Toxicological and antiproliferative effects of N6-(delta2-isopentenyl) adenosine, a natural component of mammalian transfer RNA. Cancer Res (1970) 0.87
The value of molecular haplotypes in a family-based linkage study. Am J Hum Genet (2006) 0.86
Genetic epidemiology of breast cancer: segregation analysis of 389 Icelandic pedigrees. Genet Epidemiol (2000) 0.86
Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome. Panminerva Med (2005) 0.86
Familial lung cancer--correcting an error in calculation. J Natl Cancer Inst (1986) 0.86
Gene structure and allelic expression assay of the human GLI3 gene. Hum Genet (1997) 0.86