ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy

(2014) Laura L. Smith et al.   HUMAN MOLECULAR GENETICS

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

(2013) Vandana A. Gupta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of three novelECEL1mutations in three families with distal arthrogryposis type 5D

(2013) R. Shaheen et al.   CLINICAL GENETICS

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

(2012) Olga S Koutsopoulos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

(2012) Barak Markus et al.   HUMAN MUTATION

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

(2011) W. R. Telfer et al.   Disease Models & Mechanisms

Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE

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

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

Characterization of the ZBTB42 gene in humans and mice

(2010) Stephanie A. Devaney et al.   HUMAN GENETICS

AKT1 polymorphisms are associated with risk for metabolic syndrome

(2010) Joseph M. Devaney et al.   HUMAN GENETICS

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

(2008) Heidi O Nousiainen et al.   NATURE GENETICS

The BTB–zinc finger transcriptional regulator PLZF controls the development of invariant natural killer T cell effector functions

(2008) Damian Kovalovsky et al.   NATURE IMMUNOLOGY