Jameela Shinwari

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

José Morales, Latifa Al-Sharif, Dania S. Khalil et al. · The American Journal of Human Genetics · 2009 · 239 citations · Full text

Homozygous Mutations, Developmental Biology, Mendelian Disorder +7

Association of a Mutation in <i>LACC1</i> With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

Salma M. Wakil, Dorota Monies, Mohamed Abouelhoda et al. · Arthritis & Rheumatology · 2014 · 136 citations

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

Bashayer Al‐Mubarak, Mohamed Abouelhoda, Aisha Omar et al. · Scientific Reports · 2017 · 97 citations · Full text

Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

Jameela Shinwari, Arif O. Khan, Salma Awad et al. · The American Journal of Human Genetics · 2014 · 56 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +9

A missense mutation in <i>PIK3R5</i> gene in a family with ataxia and oculomotor apraxia

Nada Al Tassan, Dania S. Khalil, Jameela Shinwari et al. · Human Mutation · 2011 · 53 citations