Homozygosity mapping: One more tool in the clinical geneticist's toolbox

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

(2009) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

(2009) Mohamed A. Aldahmesh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Consanguinity and major genetic disorders in Saudi children : A community-based cross-sectional study

(2009) MohammadI El Mouzan et al.   ANNALS OF SAUDI MEDICINE

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

(2009) André Mégarbané et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

(2009) M. A. Aldahmesh et al.   NEUROGENETICS

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

(2009) M. A. Nalls et al.   NEUROGENETICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

(2009) Michael A. Nalls et al.   PLoS Genetics

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS