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M. Shahrour · SciRah

Researcher profile · Semantic Scholar

M. Shahrour

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M. Shahrour — researcher profile on SciRah

h-index: 10
Works: 16
Citations: 366

Most-cited papers

Using media to impact health policy-making: an integrative systematic review
Lama Bou-Karroum, F. El-Jardali, N. Hemadi, Yasmine Faraj +9 more
2017Implementation Science91 citations Open access
Semantic Scholar
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Teresa Santiago-Sim, Lindsay C. Burrage, F. Ebstein, M. Tokita +63 more
2017American Journal of Human Genetics62 citations Open access
Semantic Scholar
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia
B. Abu-Libdeh, Liza Douiev, Sarah Amro, M. Shahrour +4 more
2017European Journal of Human Genetics53 citations Open access
Semantic Scholar
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
S. Edvardson, Y. Murakami, T. Nguyen, M. Shahrour +9 more
2016Journal of Medical Genetics48 citations
Semantic Scholar
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy
Yeshaya Langer, A. Aran, S. Gulsuner, B. Abu-Libdeh +17 more
2018Journal of Medical Genetics32 citations Open access
Semantic Scholar
PARP10 deficiency manifests by infantile neurodegeneration and DNA repair defect
M. Shahrour, Claudia M. Nicolae, S. Edvardson, Motee Ashhab +5 more
2016Neurogenetics20 citations Open access
Semantic Scholar
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
Xiaolin Lin, Wei Wang, Ming-Yi Yang, N. Damseh +25 more
2023Genome Biology13 citations Open access
Semantic Scholar
PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome.
M. Shahrour, F. Lasorsa, Vito Porcelli, Imad Dweikat +12 more
2021Journal of Clinical Endocrinology and Metabolism12 citations Open access
Semantic Scholar
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
B. Abu-Libdeh, Motee Ashhab, M. Shahrour, M. Daana +4 more
2019Neurogenetics11 citations
Semantic Scholar
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
M. Shahrour, Motee Ashhab, S. Edvardson, Michal Gur +2 more
2017Neurogenetics10 citations
Semantic Scholar
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease
Thomas Ciecierega, Imad Dweikat, Mohammad Awar, M. Shahrour +2 more
2014BMC Pediatrics7 citations Open access
Semantic Scholar
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
M. Shahrour, Claudia M. Nicolae, S. Edvardson, Motee Ashhab +5 more
2017Neurogenetics3 citations Open access
Semantic Scholar
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
M. Shahrour, Claudia M. Nicolae, S. Edvardson, Motee Ashhab +5 more
2016Neurogenetics2 citations Open access
Semantic Scholar
Celiac Disease Presenting as Acute Pancreatitis: A Case Report and Review ofthe Literature
M. Sultan, M. Shahrour, Rose Abdel Haleem, Thomas Ciecierega
20152 citations Open access
Semantic Scholar
Loss-of-function mutation in human Oxidation Resistance gene 1 disrupts the spatial-temporal regulation of histone arginine methylation in early brain development
Xiaolin Lin, Wei Wang, Ming-Yi Yang, N. Damseh +25 more
2022bioRxiv0 citations Open access
Semantic Scholar
Alcohol versus dry umbilical cord care among newborn infants in occupied Palestinian territory: a controlled trial
M. Shahrour, N. Sawalha, M. Masri, Hanan Rajabi +9 more
20170 citations Open access
Semantic Scholar

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B. Abu-Libdeh×12
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B. Abu-Libdeh — researcher profile on SciRah
O. Elpeleg×11
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