Fatma Al‐Jasmi

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni et al. · Human Mutation · 2014 · 86 citations

Life Sciences, Genetics, Molecular Genetics +14

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

Fatma Al‐Jasmi, Nafisa Tawfig, Ans Berniah et al. · JIMD Reports · 2012 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Aisha Al‐Shamsi, Jozef Hertecant, Abdul‐Kader Souid et al. · Orphanet Journal of Rare Diseases · 2016 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Lance H. Rodan, Marissa Hauptman, Alissa M. D’Gama et al. · Molecular Genetics and Metabolism · 2018 · 51 citations

Life Sciences, Genetics, Molecular Genetics +9

Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

Fatma Al‐Jasmi, Mohamed Abdelhaleem, Tracy Stockley et al. · Journal of Pediatric Hematology/Oncology · 2008 · 47 citations

Life Sciences, Genetics, Molecular Genetics +16