Naz Khan

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 136 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated

Jane C. Caldwell, Natalie Moreton, Naz Khan et al. · Heart · 2012 · 34 citations

Medicine, Cardiology, Internal Medicine +17

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Christin S. Adamo, Aude Beyens et al. · The American Journal of Human Genetics · 2021 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

Zerin Hyder, Wim Van Paesschen, Ataf Sabir et al. · European Journal of Human Genetics · 2021 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Eleanor Raffan, Liam A. Hurst, Saeed Al Turki et al. · Frontiers in Endocrinology · 2011 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16