Fathiya Al Murshedi

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 173 citations

Intellectual Impairment, Genetics, Disability +6

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

Genome-wide Association Study, Intellectual Impairment, Sequencing +15

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 · 68 citations · Full text

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 · 31 citations · Full text

CNP deficiency causes severe hypomyelinating leukodystrophy in humans

Lama AlAbdi, Fathiya Al Murshedi, Alaa Elmanzalawy et al. · Human Genetics · 2020 · 27 citations

Neurological Disorder, Medicine, Cnp Deficiency +3