Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

(2016) Manuel A. Rivas et al.   Nature Communications

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Expanded genetic screening panel for the Ashkenazi Jewish population

(2015) Brett Baskovich et al.   GENETICS IN MEDICINE

Gut Fungal Microbiota

(2015) Mathias L. Richard et al.   INFLAMMATORY BOWEL DISEASES

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

(2015) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients

(2015) Shimon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy

(2015) Hong Liu et al.   NATURE GENETICS

Commensal bacteria direct selective cargo sorting to promote symbiosis

(2015) Qin Zhang et al.   NATURE IMMUNOLOGY

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

(2015) Daniel J. Balick et al.   PLoS Genetics

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Rare variant association studies

(2014) Orli Bahcall   NATURE GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Demography and the Age of Rare Variants

(2014) Iain Mathieson et al.   PLoS Genetics

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

(2014) Anastasia M. Fedick et al.   Molecular Genetics & Genomic Medicine

A deleterious mutation in thePEX2gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent

(2013) A. Fedick et al.   CLINICAL GENETICS

Carrier frequency of twoBBS2mutations in the Ashkenazi population

(2013) A. Fedick et al.   CLINICAL GENETICS

Recommended Joint and Meta-Analysis Strategies for Case-Control Association Testing of Single Low-Count Variants

(2013) Clement Ma et al.   GENETIC EPIDEMIOLOGY

Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

(2013) Gavin Band et al.   PLoS Genetics

Estimating the contribution of genetic variants to difference in incidence of disease between population groups

(2012) Ramal Moonesinghe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The population genetics of the Jewish people

(2012) Harry Ostrer et al.   HUMAN GENETICS

Crohn's disease

(2012) Daniel C Baumgart et al.   LANCET

Crohn's Disease Risk Alleles on the NOD2 Locus Have Been Maintained by Natural Selection on Standing Variation

(2012) S. Nakagome et al.   MOLECULAR BIOLOGY AND EVOLUTION

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Evidence of widespread selection on standing variation in Europe at height-associated SNPs

(2012) Michael C Turchin et al.   NATURE GENETICS

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

(2012) Eimear E. Kenny et al.   PLoS Genetics

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

(2010) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Genomewide Association Study of Leprosy

(2009) Fu-Ren Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Common Genetic Fingerprint in Leprosy and Crohn's Disease?

(2009) Erwin Schurr et al.   NEW ENGLAND JOURNAL OF MEDICINE

FounderFukutinmutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

(2009) Wendy Chung et al.   PRENATAL DIAGNOSIS

Carrier screening in individuals of Ashkenazi Jewish descent

(2008) Susan J Gross et al.   GENETICS IN MEDICINE

Novel CARD15/NOD2 mutations in Finnish patients with Crohnʼs disease and their relation to phenotypic variation in vitro and in vivo

(2007) Maarit Lappalainen et al.   INFLAMMATORY BOWEL DISEASES