A founder mutation inBBS2is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

High incidence of Bardet Biedl syndrome among the Bedouin

(2010) Talaat I. Farag et al.   CLINICAL GENETICS

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

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family

(2009) B Xin et al.   CLINICAL GENETICS

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Clinical genetics and the Hutterite population: A review of Mendelian disorders

(2008) Kym M. Boycott et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical application of DNA microarrays: Molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency

(2008) Kevin A. Strauss et al.   CLINICAL IMMUNOLOGY