Nadia Alhashmi

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Sulaiman M. Al‐Mayouf, Asma Sunker, Reem Abdwani et al. · Nature Genetics · 2011 · 479 citations

Life Sciences, Genetics, Molecular Genetics +14

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 176 citations

Life Sciences, Genetics, Molecular Genetics +14

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by <i>TMEM38B</i> mutation

Ranad Shaheen, Anas M. Alazami, Muneera Alshammari et al. · Journal of Medical Genetics · 2012 · 142 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in <i>FKBP10</i> cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Ranad Shaheen, Mohammed Al‐Owain, Eissa Faqeih et al. · American Journal of Medical Genetics Part A · 2011 · 75 citations

Life Sciences, Genetics, Molecular Genetics +13

Expanding the phenome and variome of skeletal dysplasia

Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb et al. · Genetics in Medicine · 2018 · 72 citations · Full text

Medicine, Developmental Biology, Genetics +12