Published in Eur J Hum Genet on September 01, 2004
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res (2007) 10.08
Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A (2006) 1.16
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet (2012) 1.10
Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A (2005) 1.07
Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis (2011) 1.04
Novel retrotransposed imprinted locus identified at human 6p25. Nucleic Acids Res (2011) 0.90
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet (2012) 0.87
Chromosomal map of human brain malformations. Hum Genet (2008) 0.85
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. Mol Vis (2013) 0.84
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. Hum Mol Genet (2013) 0.84
Thyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y homozygosity, a common hemochromatosis genotype: the HEIRS study. Thyroid (2008) 0.83
Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. Mol Vis (2009) 0.81
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. BMC Med Genomics (2015) 0.76
22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization. Mol Syndromol (2015) 0.75
Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion. Pediatr Allergy Immunol (2014) 0.75
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res (2007) 10.08
Identification and characterization of enhancers controlling the inflammatory gene expression program in macrophages. Immunity (2010) 6.48
A large fraction of extragenic RNA pol II transcription sites overlap enhancers. PLoS Biol (2010) 6.01
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet (2005) 5.35
hsa-miR-210 Is induced by hypoxia and is an independent prognostic factor in breast cancer. Clin Cancer Res (2008) 4.84
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. Cell (2010) 4.34
Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet (2009) 4.30
Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms. Am J Hum Genet (2008) 4.28
Direct targeting of Sec23a by miR-200s influences cancer cell secretome and promotes metastatic colonization. Nat Med (2011) 3.82
Conformational control inhibition of the BCR-ABL1 tyrosine kinase, including the gatekeeper T315I mutant, by the switch-control inhibitor DCC-2036. Cancer Cell (2011) 3.49
Concordant regulation of gene expression by hypoxia and 2-oxoglutarate-dependent dioxygenase inhibition: the role of HIF-1alpha, HIF-2alpha, and other pathways. J Biol Chem (2006) 3.43
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
microRNA-associated progression pathways and potential therapeutic targets identified by integrated mRNA and microRNA expression profiling in breast cancer. Cancer Res (2011) 3.25
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Genome-wide association of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha DNA binding with expression profiling of hypoxia-inducible transcripts. J Biol Chem (2009) 3.23
High-resolution genome-wide mapping of HIF-binding sites by ChIP-seq. Blood (2011) 3.00
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
A statistical approach for detecting genomic aberrations in heterogeneous tumor samples from single nucleotide polymorphism genotyping data. Genome Biol (2010) 2.72
Comparing CNV detection methods for SNP arrays. Brief Funct Genomic Proteomic (2009) 2.58
GenoSNP: a variational Bayes within-sample SNP genotyping algorithm that does not require a reference population. Bioinformatics (2008) 2.51
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation (2006) 2.41
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data. Nucleic Acids Res (2005) 2.30
Substantial histone reduction modulates genomewide nucleosomal occupancy and global transcriptional output. PLoS Biol (2011) 2.26
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol (2003) 2.12
A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet (2008) 2.12
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry (2010) 2.07
MicroRNA-210 regulates mitochondrial free radical response to hypoxia and krebs cycle in cancer cells by targeting iron sulfur cluster protein ISCU. PLoS One (2010) 2.05
Subchromosomal positioning of the epidermal differentiation complex (EDC) in keratinocyte and lymphoblast interphase nuclei. Exp Cell Res (2002) 2.00
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Implications of climate change for agricultural productivity in the early twenty-first century. Philos Trans R Soc Lond B Biol Sci (2010) 1.98
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain (2013) 1.95
hsa-mir-210 is a marker of tumor hypoxia and a prognostic factor in head and neck cancer. Cancer (2010) 1.95
Quantitative high-throughput analysis of transcription factor binding specificities. Nucleic Acids Res (2004) 1.87
Distinct promoters mediate the regulation of Ebf1 gene expression by interleukin-7 and Pax5. Mol Cell Biol (2006) 1.81
Polycomb associates genome-wide with a specific RNA polymerase II variant, and regulates metabolic genes in ESCs. Cell Stem Cell (2012) 1.80
MicroRNA-10b and breast cancer metastasis. Nature (2008) 1.80
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet (2012) 1.80
Neural basis for generalized quantifier comprehension. Neuropsychologia (2005) 1.79
Direct reprogramming of fibroblasts into endothelial cells capable of angiogenesis and reendothelialization in tissue-engineered vessels. Proc Natl Acad Sci U S A (2012) 1.79
Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Pediatr Blood Cancer (2014) 1.78
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
TUCAN (CARD8) genetic variants and inflammatory bowel disease. Gastroenterology (2006) 1.73
Principles of dimer-specific gene regulation revealed by a comprehensive characterization of NF-κB family DNA binding. Nat Immunol (2011) 1.72
Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Am J Psychiatry (2008) 1.69
Preimplantation genetic diagnosis. Nat Rev Genet (2002) 1.62
Smooth muscle cells differentiated from reprogrammed embryonic lung fibroblasts through DKK3 signaling are potent for tissue engineering of vascular grafts. Circ Res (2013) 1.62
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet (2011) 1.56
Dysmorphology of Barth syndrome. Clin Dysmorphol (2009) 1.56
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol (2013) 1.52
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood (2003) 1.49
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
The histone demethylase JMJD2B is regulated by estrogen receptor alpha and hypoxia, and is a key mediator of estrogen induced growth. Cancer Res (2010) 1.40
Extensive characterization of NF-κB binding uncovers non-canonical motifs and advances the interpretation of genetic functional traits. Genome Biol (2011) 1.40
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum. Am J Med Genet A (2013) 1.38
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res (2004) 1.37
CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet (2009) 1.34
Barth syndrome. Orphanet J Rare Dis (2013) 1.33
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. Genes Dev (2008) 1.32
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget (2011) 1.31
High-throughput crystallization and structure determination in drug discovery. Drug Discov Today (2002) 1.30
ROS-mediated vascular homeostatic control of root-to-shoot soil Na delivery in Arabidopsis. EMBO J (2012) 1.29
Development and evaluation of real competitive PCR for high-throughput quantitative applications. Anal Biochem (2005) 1.27
Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Res (2005) 1.25
Preparation of high-quality next-generation sequencing libraries from picogram quantities of target DNA. Genome Res (2011) 1.24
RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51. J Biol Chem (2001) 1.23
CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma. Mol Cancer (2009) 1.21
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat (2008) 1.21
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat (2009) 1.20
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A (2006) 1.20
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A (2014) 1.20
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet (2013) 1.18
The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits. PLoS One (2011) 1.18
Analysis of expressed sequence tags from calcifying cells of marine coccolithophorid (Emiliania huxleyi). Mar Biotechnol (NY) (2004) 1.14
Extensive regulation of the non-coding transcriptome by hypoxia: role of HIF in releasing paused RNApol2. EMBO Rep (2013) 1.14
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. PLoS Genet (2012) 1.14
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology (2012) 1.11
MicroRNA-125a is over-expressed in insulin target tissues in a spontaneous rat model of Type 2 Diabetes. BMC Med Genomics (2009) 1.10
A method for analyzing longitudinal outcomes with many zeros. Ment Health Serv Res (2004) 1.09
Structural constraints for the binding of short peptides to claudin-4 revealed by surface plasmon resonance. J Biol Chem (2008) 1.09
Is it logical to count on quantifiers? Dissociable neural networks underlying numerical and logical quantifiers. Neuropsychologia (2008) 1.09
Microarray-based ultra-high resolution discovery of genomic deletion mutations. BMC Genomics (2014) 1.09
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat (2006) 1.07
The value of clinical criteria in identifying patients with X-linked Alport syndrome. Clin J Am Soc Nephrol (2010) 1.07
Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A (2005) 1.07
Quantifier comprehension in corticobasal degeneration. Brain Cogn (2006) 1.07
Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia. Br J Haematol (2006) 1.06
Identification of microRNA-221/222 and microRNA-323-3p association with rheumatoid arthritis via predictions using the human tumour necrosis factor transgenic mouse model. Ann Rheum Dis (2012) 1.06
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. Pediatr Dev Pathol (2010) 1.04
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A (2013) 1.04
Comparison of human chromosome 6p25 with mouse chromosome 13 reveals a greatly expanded ov-serpin gene repertoire in the mouse. Genomics (2002) 1.03
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet (2013) 1.02
The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci. PLoS Genet (2006) 1.01
Genome-wide analysis of mutations in mutant lineages selected following fast-neutron irradiation mutagenesis of Arabidopsis thaliana. Genome Res (2012) 1.01