Published in Am J Med Genet A on October 01, 2010
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet (2012) 0.99
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. Eur J Hum Genet (2011) 0.83
Unrevealed mosaicism in the next-generation sequencing era. Mol Genet Genomics (2015) 0.81
Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer. Genome Res (2015) 0.80
Mosaicism in health and disease - clones picking up speed. Nat Rev Genet (2016) 0.79
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. Nat Commun (2016) 0.78
Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. Postgrad Med J (2013) 0.77
Molecular genetic investigative leads to differentiate monozygotic twins. Investig Genet (2014) 0.75
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. Hum Genome Var (2017) 0.75
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol (2008) 4.41
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A (2009) 3.49
The role of geography in human adaptation. PLoS Genet (2009) 3.41
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet (2010) 3.15
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet (2006) 3.03
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell (2004) 2.33
Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet (2012) 2.30
Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat (2008) 2.30
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol (2010) 2.17
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes (2011) 2.09
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat (2010) 2.03
Characterizing the admixed African ancestry of African Americans. Genome Biol (2009) 2.01
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol (2004) 1.85
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. Haematologica (2005) 1.79
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet (2005) 1.78
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Differential DNA methylation with age displays both common and dynamic features across human tissues that are influenced by CpG landscape. Genome Biol (2013) 1.69
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet (2002) 1.69
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57
Genomic microarrays in the spotlight. Trends Genet (2004) 1.55
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet (2009) 1.53
The aquaporin-2 water channel in autosomal dominant primary nocturnal enuresis. J Urol (2002) 1.46
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat Genet (2005) 1.43
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. Muscle Nerve (2010) 1.43
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Blood (2004) 1.40
Epigenome-wide association study of fasting measures of glucose, insulin, and HOMA-IR in the Genetics of Lipid Lowering Drugs and Diet Network study. Diabetes (2013) 1.38
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet (2009) 1.30
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet (2006) 1.29
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. Blood (2002) 1.28
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum Mutat (2013) 1.26
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet (2010) 1.22
Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet (2007) 1.21
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. Eur J Hum Genet (2005) 1.17
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet (2007) 1.16
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet (2008) 1.15
Whole-genome sequencing: a step closer to personalized medicine. JAMA (2011) 1.13
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome. BMC Res Notes (2011) 1.10
Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity. Int J Oncol (2006) 1.09
A segmental maximum a posteriori approach to genome-wide copy number profiling. Bioinformatics (2008) 1.09
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med (2004) 1.07
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. Semin Hematol (2011) 1.06
Randomized trial of personal genomics for preventive cardiology: design and challenges. Circ Cardiovasc Genet (2012) 1.06
The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response. J Biol Chem (2008) 1.06
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A (2011) 1.06
Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer. Genes Chromosomes Cancer (2006) 1.05
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet (2009) 1.05
Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J Mol Med (Berl) (2003) 1.05
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. Eur J Hum Genet (2013) 1.05
Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer. Mol Ther (2003) 1.05
Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors. Genes Chromosomes Cancer (2011) 1.03
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics (2011) 1.02
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A (2007) 1.02
Characterization of X-linked SNP genotypic variation in globally distributed human populations. Genome Biol (2010) 1.02
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array. Neuro Oncol (2009) 1.02
A Meniere's disease gene linked to chromosome 12p12.3. Am J Med Genet B Neuropsychiatr Genet (2006) 1.02
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta (2009) 1.01
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet (2011) 1.00
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. J Clin Invest (2014) 1.00
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet (2012) 0.99
Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma. Int J Cancer (2010) 0.99
The role of hMLH3 in familial colorectal cancer. Cancer Res (2003) 0.98
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency. FEBS Lett (2009) 0.98
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics (2006) 0.98
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. Pediatr Blood Cancer (2009) 0.98
Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS). Reprod Biol Endocrinol (2010) 0.97
The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. Eur J Hum Genet (2002) 0.96
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet (2010) 0.95
Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypes. Hum Mol Genet (2012) 0.95
Integrative epigenomic and genomic analysis of malignant pheochromocytoma. Exp Mol Med (2010) 0.93
Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol (2013) 0.93
Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics (2007) 0.93
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat (2005) 0.92
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur J Hum Genet (2010) 0.92
Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. Cancer Res (2005) 0.91
High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas. Genes Chromosomes Cancer (2005) 0.91
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat (2013) 0.91
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet (2009) 0.91
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. Am J Med Genet A (2013) 0.91
5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability. PLoS One (2011) 0.91
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease. J Med Genet (2011) 0.90
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr (2007) 0.90
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. Gut (2012) 0.90