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M. Issa · SciRah

Researcher profile · Semantic Scholar

M. Issa

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M. Issa — researcher profile on SciRah

h-index: 23
Works: 83
Citations: 2,038

Most-cited papers

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
G. Novarino, A. Fenstermaker, M. Zaki, Matan Hofree +48 more
2014Science540 citations Open access
Semantic Scholar
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
V. Shashi, M. Magiera, D. Klein, M. Zaki +56 more
2018EMBO Journal118 citations Open access
Semantic Scholar
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
P. Makrythanasis, M. Kato, M. Zaki, H. Saitsu +17 more
2016American Journal of Human Genetics88 citations Open access
Semantic Scholar
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
M. Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, V. Alesi +28 more
2020Brain : a journal of neurology70 citations Open access
Semantic Scholar
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
C. van Karnebeek, R. Ramos, X. Wen, M. Tarailo-Graovac +29 more
2019American Journal of Human Genetics70 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
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Roberta De Mori, M. Romani, S. D'Arrigo, M. Zaki +26 more
2017American Journal of Human Genetics53 citations Open access
Semantic Scholar
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients
M. Zaki, L. Selim, H. El-Bassyouni, M. Issa +6 more
2016European journal of paediatric neurology52 citations Open access
Semantic Scholar
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
I. Marín-Valencia, Andreas Gerondopoulos, M. Zaki, T. Ben-Omran +14 more
2017American Journal of Human Genetics51 citations Open access
Semantic Scholar
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrián Palencia-Campos, P. Aoto, E. M. Machal, A. Rivera-Barahona +38 more
2020American Journal of Human Genetics49 citations Open access
Semantic Scholar
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly
Guoliang Chai, A. Webb, Chen Li, D. Antaki +33 more
2020Neuron47 citations Open access
Semantic Scholar
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
N. Bramswig, A. Bertoli-Avella, B. Albrecht, A. al Aqeel +41 more
2018Human Genetics47 citations Open access
Semantic Scholar
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Sukhleen Kour, D. Rajan, Tyler R. Fortuna, Eric N. Anderson +66 more
2021Nature Communications46 citations Open access
Semantic Scholar
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
J. Friedman, Desirée E. C. Smith, M. Issa, Valentina Stanley +25 more
2019Nature Communications46 citations Open access
Semantic Scholar
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
I. Marín-Valencia, G. Novarino, Anide Johansen, Başak Rosti +11 more
2017Journal of Medical Genetics46 citations Open access
Semantic Scholar
PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive
M. Zaki, G. Bhat, Tipu Sultan, M. Issa +8 more
2016Annals of Neurology41 citations Open access
Semantic Scholar
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation
M. Zaki, M. Issa, H. Elbendary, Hanaa El-Karaksy +7 more
2018Clinical Genetics40 citations
Semantic Scholar
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
G. Abdel-Salam, M. S. Abdel-Hamid, M. Issa, Ahmed M. Magdy +2 more
2012American Journal of Medical Genetics. Part A38 citations
Semantic Scholar
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
M. C. Estañ, E. Fernández-Núñez, M. Zaki, M. I. Esteban +26 more
2019Nature Communications36 citations Open access
Semantic Scholar
The potential Impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.
Nora N. Esmaiel, E. Ashaat, Rehab Mosaad, A. Fayez +9 more
2020Behavioural Brain Research30 citations
Semantic Scholar
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
R. Maroofian, J. Sedmík, Neda Mazaheri, M. Scala +11 more
2020Journal of Medical Genetics28 citations Open access
Semantic Scholar
PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation
M. S. Abdel-Hamid, M. Issa, Ghada A. Otaify, S. Abdel-Ghafar +2 more
2018Clinical Genetics26 citations
Semantic Scholar
Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome
Alicia Guemez-Gamboa, A. Çağlayan, Valentina Stanley, A. Gregor +31 more
2018Annals of Neurology25 citations Open access
Semantic Scholar
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
G. Abdel-Salam, M. Abdel-Hamid, N. Hassan, M. Issa +4 more
2013American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients
H. Hassan, M. Zaki, M. Issa, Nagham M El-Bagoury +1 more
2020Egyptian Journal of Medical Human Genetics22 citations Open access
Semantic Scholar
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Ruizhi Deng, Eva Medico-Salsench, A. Nikoncuk, R. Ramakrishnan +48 more
2023Acta Neuropathologica21 citations Open access
Semantic Scholar
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
M. S. Abdel-Hamid, S. Abdel-Ghafar, S. Ismail, Lubna M. Desouky +3 more
2020Clinical Genetics21 citations Open access
Semantic Scholar
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
M. Scala, Saskia B. Wortmann, N. Kaya, M. Stellingwerff +71 more
2022Human Mutation20 citations Open access
Semantic Scholar
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations
M. Abdel-Hamid, G. Abdel-Salam, M. Issa, Bayoumi A. Emam +1 more
2017Journal of Human Genetics20 citations
Semantic Scholar
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant
Sara H. El-Dessouky, M. Issa, M. Aboulghar, H. Gaafar +5 more
2020American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Implication of folate deficiency in CYP2U1 loss of function
C. Pujol, A. Legrand, L. Parodi, P. Thomas +44 more
2021Journal of Experimental Medicine18 citations Open access
Semantic Scholar
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
P. Makrythanasis, M. Guipponi, F. Santoni, M. Zaki +4 more
2016Human Genomics18 citations Open access
Semantic Scholar
TMEM161B modulates radial glial scaffolding in neocortical development
Lu Wang, C. Heffner, Keng Loi Vong, Chelsea Barrows +16 more
2023Proceedings of the National Academy of Sciences of the United States of America16 citations Open access
Semantic Scholar
Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects
M. Abdel-Hamid, M. Issa, H. Elbendary, S. Abdel-Ghafar +5 more
2019Journal of Human Genetics15 citations
Semantic Scholar
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
S. Ghosh, M. Scala, C. Beetz, G. Helman +42 more
2020European Journal of Human Genetics13 citations Open access
Semantic Scholar
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
M. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George +8 more
2020BMC Medical Genomics13 citations Open access
Semantic Scholar
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
M. Abdel-Hamid, S. Ismail, M. Zaki, G. Abdel-Salam +8 more
2018American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
G. Abdel-Salam, I. Sayed, H. Afifi, S. Abdel-Ghafar +11 more
2020American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
I. Mahmoud, M. A. Elmonem, M. Zaki, A. Ramadan +11 more
2020Clinical Genetics9 citations Open access
Semantic Scholar
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
A. Mohamed, H. El-Bassyouni, A. El-Gerzawy, S. Hammad +6 more
2018Molecular Cytogenetics9 citations Open access
Semantic Scholar
Phenotypic continuum of NFU1 ‐related disorders
R. Kaiyrzhanov, M. Zaki, Tracy Lau, Sambuddha Sen +42 more
2022Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
The contribution of de novo coding mutations to meningomyelocele
Y.-J. Ha, Ashna Nisal, I. Tang, Chanjae Lee +62 more
2025Nature7 citations Open access
Semantic Scholar
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
N. Elkhateeb, M. Issa, H. Elbendary, Walaa ElNaggar +16 more
2024Clinical Genetics7 citations
Semantic Scholar
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, R. Maroofian, M. Zaki, J. Wangen +187 more
2023American Journal of Human Genetics7 citations Open access
Semantic Scholar
Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
M. Zaki, G. Otaify, S. Ismail, M. Issa +7 more
2020American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect
M. Zaki, G. Abdel-Salam, Sahar N. Saleem, W. Dobyns +3 more
2011American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients
H. Hassan, N. Fahmy, Nagham M El-Bagoury, Noura R. Eissa +4 more
2022Egyptian Journal of Medical Human Genetics6 citations Open access
Semantic Scholar
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Calì, Tania Quirin, C. Rocca, S. Efthymiou +125 more
2024Genetics in Medicine5 citations Open access
Semantic Scholar
Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype
Sara H. El-Dessouky, H. Hosny, Ahmed Ezz Elarab, M. Issa
2020Egyptian Journal of Medical Human Genetics5 citations Open access
Semantic Scholar
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
M. Zaki, M. Issa, M. Thomas, H. Elbendary +6 more
2020Neurological Sciences5 citations
Semantic Scholar

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M. Zaki×36
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M. Zaki — researcher profile on SciRah
J. Gleeson×19
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J. Gleeson — researcher profile on SciRah
M. Abdel-Hamid×14
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M. Abdel-Hamid — researcher profile on SciRah
Valentina Stanley×12
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Valentina Stanley — researcher profile on SciRah

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H. Elbendary — researcher profile on SciRah

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S. Ismail — researcher profile on SciRah

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M. Zaki — researcher profile on SciRah

G. Abdel-Salam×9

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G. Abdel-Salam — researcher profile on SciRah

R. Maroofian×8

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R. Maroofian — researcher profile on SciRah

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D. Musaev — researcher profile on SciRah

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L. Selim — researcher profile on SciRah

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M. Aglan — researcher profile on SciRah