Published in Eur J Med Genet on April 09, 2010
Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet (2013) 1.87
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet (2011) 1.43
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. Mol Syndromol (2015) 1.00
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet (2011) 0.99
Corpus callosum agenesis and rehabilitative treatment. Ital J Pediatr (2010) 0.97
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med (2016) 0.83
Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes. PLoS One (2011) 0.82
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. Eur J Hum Genet (2012) 0.81
The clinical impact of chromosomal microarray on paediatric care in Hong Kong. PLoS One (2014) 0.81
A Comprehensive Analysis of Cell Type-Specific Nuclear RNA From Neurons and Glia of the Brain. Biol Psychiatry (2016) 0.80
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum. Mol Cytogenet (2011) 0.79
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients. Mol Cytogenet (2015) 0.78
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet (2017) 0.78
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. Eur J Hum Genet (2013) 0.77
A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea. Korean J Pediatr (2014) 0.76
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report. Medicine (Baltimore) (2017) 0.75
Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum. Mol Syndromol (2015) 0.75
A patient with constitutional ring 1 chromosome characterized by SNP array CGH. Clin Case Rep (2016) 0.75
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet (2017) 0.75
Signatures of mutational processes in human cancer. Nature (2013) 21.63
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
A biologic definition of Burkitt's lymphoma from transcriptional and genomic profiling. N Engl J Med (2006) 7.42
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Microbial exposure during early life has persistent effects on natural killer T cell function. Science (2012) 5.90
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet (2010) 3.83
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome Res (2009) 3.81
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia. Blood (2009) 3.50
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
Recombinant vitronectin is a functionally defined substrate that supports human embryonic stem cell self-renewal via alphavbeta5 integrin. Stem Cells (2008) 3.33
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Double-hit B-cell lymphomas. Blood (2010) 3.19
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. Am J Hum Genet (2008) 3.11
Synergy between PI3K signaling and MYC in Burkitt lymphomagenesis. Cancer Cell (2012) 3.10
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
MYC status in concert with BCL2 and BCL6 expression predicts outcome in diffuse large B-cell lymphoma. Blood (2013) 3.03
Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol (2008) 2.90
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
TNFAIP3 (A20) is a tumor suppressor gene in Hodgkin lymphoma and primary mediastinal B cell lymphoma. J Exp Med (2009) 2.80
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Nonbone marrow-derived circulating progenitor cells contribute to postnatal neovascularization following tissue ischemia. Circ Res (2007) 2.71
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep (2012) 2.67
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet (2010) 2.61
Clinical and angiographic risk factors for stroke and death within 30 days after carotid endarterectomy and stent-protected angioplasty: a subanalysis of the SPACE study. Lancet Neurol (2008) 2.53
FCGR3 variants and expression of human neutrophil antigen-1a, -1b, and -1c in the populations of northern Germany and Uganda. Transfusion (2002) 2.52
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet (2011) 2.43
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue. J Mol Diagn (2006) 2.28
Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival. Blood (2009) 2.22
Cyclin D1-negative mantle cell lymphoma: a clinicopathologic study based on gene expression profiling. Blood (2005) 2.19
Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia (2014) 2.17
A DNA methylation fingerprint of 1628 human samples. Genome Res (2011) 2.16
Zoledronic acid exhibits inhibitory effects on osteoblastic and osteolytic metastases of prostate cancer. Clin Cancer Res (2003) 2.14
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer. Genome Biol (2011) 2.11
Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas. Blood (2006) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest (2002) 2.09
Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria. J Cardiovasc Electrophysiol (2008) 2.09
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet (2012) 2.07
ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases. Blood (2003) 2.05
Diffusion-weighted whole-body imaging with background body signal suppression (DWIBS): features and potential applications in oncology. Eur Radiol (2008) 2.05
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. Proc Natl Acad Sci U S A (2013) 2.00
TGF-beta1 induces efficient differentiation of human cardiomyocyte progenitor cells into functional cardiomyocytes in vitro. Stem Cell Res (2008) 1.98
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A (2003) 1.98
New insights into the biology and origin of mature aggressive B-cell lymphomas by combined epigenomic, genomic, and transcriptional profiling. Blood (2008) 1.97
Epigenetic silencing of the tumor suppressor microRNA Hsa-miR-124a regulates CDK6 expression and confers a poor prognosis in acute lymphoblastic leukemia. Cancer Res (2009) 1.95
Aberrant immunoglobulin class switch recombination and switch translocations in activated B cell-like diffuse large B cell lymphoma. J Exp Med (2007) 1.94
Derepression of an endogenous long terminal repeat activates the CSF1R proto-oncogene in human lymphoma. Nat Med (2010) 1.93
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet (2002) 1.91
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet (2009) 1.91
Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling? Eur J Hum Genet (2006) 1.91
Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Heart Rhythm (2012) 1.91
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet (2013) 1.87
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet (2010) 1.83
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet (2007) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. J Clin Oncol (2007) 1.82
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer (2012) 1.82
Neuronal networks in children with continuous spikes and waves during slow sleep. Brain (2010) 1.81
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet (2011) 1.80
Detection of genomic imbalances in microdissected Hodgkin and Reed-Sternberg cells of classical Hodgkin's lymphoma by array-based comparative genomic hybridization. Haematologica (2008) 1.80
CCND2 rearrangements are the most frequent genetic events in cyclin D1(-) mantle cell lymphoma. Blood (2012) 1.79
The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat (2006) 1.75
Five members of the CEBP transcription factor family are targeted by recurrent IGH translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood (2006) 1.74
Variable frequencies of t(11;18)(q21;q21) in MALT lymphomas of different sites: significant association with CagA strains of H pylori in gastric MALT lymphoma. Blood (2003) 1.73
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes. J Infect Dis (2007) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
MALT1 is deregulated by both chromosomal translocation and amplification in B-cell non-Hodgkin lymphoma. Blood (2003) 1.69
Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res (2009) 1.67
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Iterative reconstruction techniques for computed tomography Part 1: technical principles. Eur Radiol (2013) 1.66
Identification of overexpressed genes in frequently gained/amplified chromosome regions in multiple myeloma. Haematologica (2006) 1.65
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med (2010) 1.64