Publications by authors named "Mahmoud Y Issa"

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Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.
Asmaa K Amin, Sara H El-Dessouky, Marwa Abd Elmaksoud, Amira Nabil, Mona M Aboulghar, Mahmoud Y Issa, Noha M Issa

Clin Genet· October 2025

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Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.
Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, Hatem A Mousa, Maha S Zaki, Mahmoud Y Issa

Clin Genet· July 2025

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ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.
Karima Rafat, Asmaa F Abdel-Aleem, Hasnaa M Elbendary, Mahmoud Y Issa, Mona L Essawi

Sci Rep· June 2025

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The contribution of de novo coding mutations to meningomyelocele.
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Mahmoud Y Issa

Nature· May 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Mahmoud Y Issa

Genet Med· April 2025

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Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, Alaa Ebrashy, Sameh M Senousy, Mahmoud Y Issa, Haissam Aref

Prenat Diagn· February 2025

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Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Simo Li, Sanami Takada, Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Maha S Zaki, Mahmoud Y Issa

NPJ Genom Med· November 2024

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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Wessam E Sharaf-Eldin, Karima Rafat, Mahmoud Y Issa, Hasnaa M Elbendary, Noura R Eissa

J Mol Neurosci· October 2024

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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan

Clin Genet· May 2024

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Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Mahmoud Y Issa, Mona A Hafez, Samir M Mounir, Sherif F Abdel Ghafar, Maha S Zaki

Am J Med Genet A· February 2024

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, Jamie Wangen, Andrea Ciolfi, Clarissa Rocca, Mahmoud Y Issa, Eissa Ali Faqeih

Am J Hum Genet· January 2024

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Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Maha S Zaki, Wessam E Sharaf-Eldin, Karima Rafat, Hasnaa M Elbendary, Mona Kamel, Mahmoud Y Issa

Clin Genet· August 2023

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An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
Sahar Sabry, Mahmoud Y Issa, Mohamed S Abdel-Hamid, Noura R Eissa, Sherif F Abdel-Ghafar

Mol Biol Rep· August 2023

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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Mahmoud Y Issa

Brain Commun· August 2023

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TMEM161B modulates radial glial scaffolding in neocortical development.
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Mahmoud Y Issa

Proc Natl Acad Sci U S A· January 2023

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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Mahmoud Y Issa

Hum Mutat· March 2022

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Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.
Wessam E Sharaf-Eldin, Mahmoud Y Issa, Maha S Zaki, Ayman Kilany, Alaaeldin G Fayez

J Genet Eng Biotechnol· March 2022

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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Maha S Zaki, Mahmoud Y Issa, Manal M Thomas, Hasnaa M Elbendary, Karima Rafat

Neurol Sci· July 2021

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Melissa Gibbons, Mahmoud Y Issa

Nat Commun· May 2021

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Mahmoud Y Issa

Eur J Hum Genet· February 2021

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Mahmoud Y Issa

Neuron· January 2021

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ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Iman G Mahmoud, Mohamed A Elmonem, Maha S Zaki, Areef Ramadan, Nihal M Al-Menabawy, Mahmoud Y Issa

Clin Genet· December 2020

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Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
Sara H El-Dessouky, Mahmoud Y Issa, Mona M Aboulghar, Hassan M Gaafar, Ahmed Ezz Elarab

Am J Med Genet A· December 2020

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Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Maha S Zaki, Ghada A Otaify, Samira Ismail, Mahmoud Y Issa, Mona O El-Ruby

Am J Med Genet A· December 2020

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Mahmoud Y Issa

Am J Hum Genet· November 2020

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