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Rajech Abedallah Sharkia

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
2013 · Martial Mallaret, Matthis Synofzik, et al. · Brain · 134
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
2017 · Martina Minnerop, Delia Kurzwelly, et al. · Brain · 126
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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
2020 · Holger Hengel, Rebecca Buchert, et al. · European Journal of Human Genetics · 40
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
2019 · Anja K Mayer, Muhammad Mahajnah, et al. · Brain · 38
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CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
2017 · Holger Hengel, Alex Magee, et al. · Neurology Genetics · 33
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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
2019 · Rajech Sharkia, Klaas J. Wierenga, et al. · Journal of Inherited Metabolic Disease · 31
A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome
2018 · Rajech Sharkia, Abdelnaser Zalan, et al. · European Journal of Medical Genetics · 30
The relationship between parental stress and mastery, forgiveness, and social support among parents of children with autism
2020 · Michael Weinberg, Neta Gueta, et al. · Research in Autism · 28
Changes in Marriage Patterns Among the Arab Community in Israel Over a 60-year Period
2015 · Rajech Sharkia, Muhammad Mahajnah, et al. · Journal of Biosocial Science · 24
Clinical Characteristics of Autism Spectrum Disorder in Israel: Impact of Ethnic and Social Diversities
2015 · Muhammad Mahajnah, Rajech Sharkia, et al. · BioMed Research International · 24
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Comparative screening of FMF mutations in various communities of the Israeli society
2013 · Rajech Sharkia, Muhammad Mahajnah, et al. · European Journal of Medical Genetics · 23
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy
2017 · Rajech Sharkia, Stavit A. Shalev, et al. · American Journal of Medical Genetics Part A · 18
Factors affecting the utilization of genetic counseling services among Israeli Arab women
2014 · Rajech Sharkia, Jalal Tarabeia, et al. · Prenatal Diagnosis · 14
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report
2014 · Rajech Sharkia, Muhammad Mahajnah, et al. · Journal of Medical Case Reports · 14
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A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia
2019 · Rajech Sharkia, Abdelnaser Zalan, et al. · American Journal of Medical Genetics Part A · 13
Exploration of Risk Factors for Type 2 Diabetes among Arabs in Israel
2019 · Rajech Sharkia, Ahmad Sheikh-Muhammad, et al. · Annals of Global Health · 13
The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?
2021 · Rajech Sharkia, Mohammad Khatib, et al. · Journal of Biosocial Science · 12
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
2023 · Rajech Sharkia, Sahil Jain, et al. · Genes · 9
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Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
2015 · Anja-Kathrin Mayer, Muhammad Mahajnah, et al. · PubMed Central · 9
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CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses
2022 · Rajech Sharkia, Abdelnaser Zalan, et al. · Genes · 8
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Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report
2016 · Rajech Sharkia, Holger Hengel, et al. · Journal of Medical Case Reports · 8
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SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses
2024 · Rajech Sharkia, Abdelnaser Zalan, et al. · Genes · 6
The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children
2017 · Muhammad Mahajnah, Rajech Sharkia, et al. · Journal of Attention Disorders · 6
Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation
2020 · Natalia Borovok, Celeste Weiss, et al. · Frontiers in Genetics · 5
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Clinical Profile of Attention Deficit Hyperactivity Disorder: Impact of Ethnic and Social Diversities in Israel.
2016 · Muhammad Mahaj, Rajech Sharkia, et al. · PubMed · 5
Works count: 42
Citation count: 694
H-index: 14
I10-index: 17
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