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Amal Hashem

Observed names: A Hashem, Al Hashem, Amal, Amal Al Hashem, Amal M. Al Hashem, Hashem, Amal Al
OpenAlex ID: A5109332080
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
2016 · S Anazi, S Maddirevula, et al. · Molecular Psychiatry · 247
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
2013 · Vandana A. Gupta, Gianina Ravenscroft, et al. · The American Journal of Human Genetics · 169
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Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
2013 · Anas M Alazami, Hadia Hijazi, et al. · Journal of Medical Genetics · 118
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
2015 · Hanan E. Shamseldin, Maha Tulbah, et al. · Genome biology · 114
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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
2014 · Ranad Shaheen, Miriam Schmidts, et al. · Human Molecular Genetics · 80
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ADAT3‐related intellectual disability: Further delineation of the phenotype
2016 · Ayman W. El‐Hattab, Mohammed A. Saleh, et al. · American Journal of Medical Genetics Part A · 53
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
2015 · Hanan Shamseldin, Anas M. Alazami, et al. · The American Journal of Human Genetics · 53
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans
2016 · Ranad Shaheen, Amal Hashem, et al. · Human Genetics · 40
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population
2019 · Khushnooda Ramzan, Mohammed Al‐Owain, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 27
ANKS3 is mutated in a family with autosomal recessive laterality defect
2016 · Hanan E. Shamseldin, Toma Antonov Yakulov, et al. · Human Genetics · 20
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
2024 · Lettie E. Rawlins, Reza Maroofian, et al. · Genetics in Medicine · 7
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The prevalence and phenotypic range associated with biallelic PKDCC variants
2023 · Alistair T. Pagnamenta, Rebecca S. Belles, et al. · Clinical Genetics · 5
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Novel Genetic Cause for Neurodevelopmental Defects
2019 · Grazia M.S. Mancini, Mohammad Doosti, et al.
Unprecedented insights into an ultra-rare disorder
2019 · rer. nat. Claudia Cozma, Arndt Rolfs, et al.
Additional file 3: of Characterizing the morbid genome of ciliopathies
2016 · Shaheen, Ranad, Szymanska, Katarzyna, et al. · Figshare
Additional file 1: Figure S1. of Characterizing the morbid genome of ciliopathies
2016 · Shaheen, Ranad, Szymanska, Katarzyna, et al. · Figshare
Additional file 2: Table S3. of Characterizing the morbid genome of ciliopathies
2016 · Ranad Shaheen, Szymanska, Katarzyna, et al. · Figshare
Additional file 8: Table S1. of Characterizing the morbid genome of ciliopathies
2016 · Ranad Shaheen, Szymanska, Katarzyna, et al. · Figshare
Additional file 6: Table S5. of Characterizing the morbid genome of ciliopathies
2016 · Ranad Shaheen, Szymanska, Katarzyna, et al. · Figshare
Additional file 5: Table S4. of Characterizing the morbid genome of ciliopathies
2016 · Ranad Shaheen, Szymanska, Katarzyna, et al. · Figshare
Additional file 7: Table S6. of Characterizing the morbid genome of ciliopathies
2016 · Ranad Shaheen, Szymanska, Katarzyna, et al. · Figshare
Works count: 21
Citation count: 933
H-index: 10
I10-index: 10
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