Saemah Nuzhat Zafar

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Joe Rainger, Ellen van Beusekom, Jacqueline Ramsay et al. · PLoS Genetics · 2011 · 93 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar et al. · PLoS ONE · 2016 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar et al. · Neurogenetics · 2015 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Identification of novel <scp><i>CYP1B</i></scp><i>1</i> gene mutations in patients with primary congenital and primary open‐angle glaucoma

Shazia Micheal, Humaira Ayub, Saemah Nuzhat Zafar et al. · Clinical and Experimental Ophthalmology · 2014 · 26 citations

Life Sciences, Genetics, Molecular Genetics +15

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar et al. · PLoS ONE · 2016 · 24 citations · Full text

Medicine, Genetics, Molecular Genetics +17