• Publications
  • Influence
Biological Insights From 108 Schizophrenia-Associated Genetic Loci
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide associationExpand
  • 4,956
  • 163
  • PDF
The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time.
We estimate an effective mutation rate at an average Y chromosome short-tandem repeat locus as 6.9x10-4 per 25 years, with a standard deviation across loci of 5.7x10-4, using data on microsatelliteExpand
  • 389
  • 57
  • PDF
A genomic screen of autism: evidence for a multilocus etiology.
We have conducted a genome screen of autism, by linkage analysis in an initial set of 90 multiplex sibships, with parents, containing 97 independent affected sib pairs (ASPs), with follow-up in 49Expand
  • 664
  • 24
  • PDF
Null mutations in LTBP2 cause primary congenital glaucoma.
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually within the first year of life, which potentially could lead to opticExpand
  • 220
  • 21
From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks
Two hypervariable sequence segments in the control region of mitochondrial DNA were determined in samples of Bulgarians and Turks. The Turkish sample presented a higher degree of internal diversity,Expand
  • 162
  • 18
Genetic studies of the Roma (Gypsies): a review
BackgroundData provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of geneticallyExpand
  • 137
  • 14
  • PDF
RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization
BackgroundRT-qPCR is a sensitive and increasingly used method for gene expression quantification. To normalize RT-qPCR measurements between samples, most laboratories use endogenous reference genesExpand
  • 246
  • 13
  • PDF
Dating the Origin of the CCR 5D 32 AIDS-Resistance Allele by the Coalescence of Haplotypes
J. Claiborne Stephens, David E. Reich, David B. Goldstein, Hyoung Doo Shin, Michael W. Smith, Mary Carrington, Cheryl Winkler, Gavin A. Huttley, Rando Allikmets, Lynn Schriml, Bernard Gerrard,Expand
  • 74
  • 11
  • PDF
A newly discovered founder population: the Roma/Gypsies.
The Gypsies (a misnomer, derived from an early legend about Egyptian origins) defy the conventional definition of a population: they have no nation-state, speak different languages, belong to manyExpand
  • 92
  • 9
  • PDF
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
Founder effect and linkage disequilibrium have been successfully exploited to map single gene disorders1, and the study of isolated populations is emerging as a major approach to the investigation ofExpand
  • 185
  • 7