| 35181961 | A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships. | Human Mutation | 2022 |
| 35507016 | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | Genet Med | 2022 |
| 30293986 | Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. | Genet Med | 2019 |
| 25649381 | A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. | Eur J Hum Genet | 2015 |
| 25633834 | Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. | Journal of Molecular and Cellular Cardiology | 2015 |
| 25615886 | Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus. | Nat Commun | 2015 |
| 23962720 | A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. | Hum Mol Genet | 2014 |
| 23518715 | A genetic study of Wilson's disease in the United Kingdom. | Brain | 2013 |
| 24159175 | Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions. | Blood | 2013 |
| 23644778 | Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. | Basic Res Cardiol | 2013 |
| 22057783 | Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data. | Hum Genet | 2012 |
| 23209683 | A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling. | PLoS One | 2012 |
| 22135276 | Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. | J Med Genet | 2012 |
| 22069447 | An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies. | PLoS One | 2011 |
| 22654791 | Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient. | Frontiers in Endocrinology | 2011 |
| 21364695 | The GENCODE exome: sequencing the complete human exome. | Eur J Hum Genet | 2011 |
| 21559497 | Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder. | PLoS One | 2011 |
| 21658913 | Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS). | Epilepsy Res | 2011 |
| 22133426 | Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing. | Investig Genet | 2011 |
| 20360734 | Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. | Nature | 2010 |
| 20111037 | Target-enrichment strategies for next-generation sequencing. | Nat Methods | 2010 |
| 20011118 | Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. | PLoS Genet | 2009 |
| 19429868 | A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. | Blood | 2009 |
| 19465909 | Genome-wide and fine-resolution association analysis of malaria in West Africa. | Nat Genet | 2009 |
| 19752777 | Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study. | Pharmacogenet Genomics | 2009 |
| 18086001 | The association between polymorphisms in RLIP76 and drug response in epilepsy. | Pharmacogenomics | 2007 |
| 17460550 | Common ABCB1 polymorphisms are not associated with multidrug resistance in epilepsy using a gene-wide tagging approach. | Pharmacogenet Genomics | 2007 |
| 17497718 | Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? | American Journal of Medical Genetics, Part A | 2007 |
| 16708052 | Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance. | Pharmacogenet Genomics | 2006 |
| 16857572 | Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study. | Lancet Neurol | 2006 |
| 15756638 | Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. | American Journal of Human Genetics | 2005 |
| 15772651 | The DNA sequence of the human X chromosome. | Nature | 2005 |
| 12958526 | DNA rescue by the vectorette method. | Methods Mol Biol | 2003 |
| 11827456 | Physical and transcript map of the hereditary prostate cancer region at xq27. | Genomics | 2002 |
| 11237015 | The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. | Nature | 2001 |
| 10786627 | Characterisation of a novel murine intestinal serine protease, DISP. | Biochim Biophys Acta | 2000 |
| 10818703 | Improved method for detecting differentially expressed genes using cDNA indexing. | Biotechniques | 2000 |
| 10607564 | Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A. | Curr Biol | 1999 |
| 10447510 | High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1. | Genome Res | 1999 |
| 9771704 | Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. | Nat Genet | 1998 |
| 9801876 | A new candidate region for the positional cloning of the XLP gene. | Eur J Hum Genet | 1998 |
| 8744027 | An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. | Eur J Hum Genet | 1996 |
| 8908513 | An integrated YAC map of the human X chromosome. | Genome Res | 1996 |
| 8956268 | DNA rescue by the vectorette method. | Methods Mol Biol | 1996 |
| 8808277 | Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. | Genomics | 1996 |
| 8597809 | Alu-PCR fingerprinting of YACs. | Methods in Molecular Biology | 1996 |
| 7566101 | A high-density YAC contig map of human chromosome 22. | Nature | 1995 |
| 8188239 | A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22. | Genomics | 1994 |
| 8449494 | Vertical integration of cosmid and YAC resources for interval mapping on the X-chromosome. | Genomics | 1993 |
| 8314593 | Exon structure of the human dystrophin gene. | Genomics | 1993 |