Thomas Jaworek

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B. Hufnagel, Gavin Arno, Nichole D. Hein et al. · Journal of Medical Genetics · 2014 · 120 citations · Full text

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

Thomas Jaworek, Élodie M. Richard, Anna Ivanova et al. · PLoS Genetics · 2013 · 60 citations · Full text

Genetics, Genomic Mechanism, Molecular Genetics +24

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

Thomas Jaworek, Tasleem Kausar, Shannon Bell et al. · Orphanet Journal of Rare Diseases · 2012 · 50 citations · Full text

Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish

Huichun Xu, Kathleen A. Ryan, Thomas Jaworek et al. · Diabetes · 2017 · 31 citations · Full text

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21–q21.1

Thomas Jaworek, Rashid Bhatti, N LATIEF et al. · Journal of Human Genetics · 2012 · 26 citations · Full text

Genetic Disorder, Genetics, Pathology +5