Fathiya Al Murshedi

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

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Maryam Al‐Nabhani, Samiya Al‐Rashdi, Fathiya Al Murshedi et al. · Clinical Genetics · 2018 · 72 citations

Life Sciences, Bioinformatics, Genetics +17

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Guidelines for acute management of hyperammonemia in the Middle East region

Majid Alfadhel, Fuad Al Mutairi, Nawal Makhseed et al. · Therapeutics and Clinical Risk Management · 2016 · 47 citations · Full text

Medicine, Emergency Medicine, Internal Medicine +6

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Andreas Janecke, Xiaoqin Liu, Rüdiger Adam et al. · Human Genetics · 2021 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17