Heba Morsy

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen, Eissa Faqeih, Asma Sunker et al. · The American Journal of Human Genetics · 2011 · 139 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +6

The morbid genome of ciliopathies: an update

Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida et al. · Genetics in Medicine · 2020 · 103 citations · Full text

Genetic Disorder, Medicine, Genetics +7

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Ersan Kalay, Orhan Sezgın, Vasant Chellappa et al. · The American Journal of Human Genetics · 2011 · 92 citations · Full text

Developmental Biology, Mendelian Disorder, Autosomal-recessive Form +8

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Mahmoud R. Fassad, Mitali Patel, Amelia Shoemark et al. · Journal of Medical Genetics · 2019 · 91 citations

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Brooke Latour, Julie C. Van De Weghe, Tamara D. S. Rusterholz et al. · Journal of Clinical Investigation · 2020 · 82 citations · Full text