Publications by authors named "Mahmoud 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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Perioperative High-Dose Steroid in Insulin-Treated Patients With Diabetes Undergoing Fast-Track Hip and Knee Arthroplasty: Impact on Length of Stay and Discharge Blood Glucose Levels.
Luma Mahmoud Issa, Henrik Kehlet, Sten Madsbad, Martin Lindberg-Larsen, Claus Varnum

Acta Anaesthesiol Scand· August 2025

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Germline variants in are associated with multilocus imprinting disturbance in humans and mice.
Eguzkine Ochoa, Ilona Zvetkova, Sunwoo Liv Lee, Nozomi Takahashi, Benoit Lan-Leung, Mahmoud Issa

Proc Natl Acad Sci U S A· August 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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A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.
Mona K Mekkawy, Alaa K Kamel, Khaled M Refaat, Abdelrahman Madian, Mahmoud Issa

Mol Syndromol· February 2025

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Tensile Force Limits of the Sheep Spine: Comparison to Forces Required to Extricate Grain Entrapped Victims.
Salah F Issa, Mahmoud S Issa, Eric Nauman, Carl Wassgren, Charles Schwab

J Agromedicine· January 2025

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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Guillaume Cogan, Maha S Zaki, Mahmoud Issa, Boris Keren, Marine Guillaud-Bataille

Hum Genet· November 2024

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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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Oxygen metabolism after cardiac arrest: Patterns and associations with survival.
Meredith G Shea, Lakshman Balaji, Anne V Grossestreuer, Mahmoud S Issa, Jeremy Silverman

Resusc Plus· September 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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Preoperative Dehydration Predicts Adverse Events Following Anterior Cervical Discectomy and Fusion.
Abdullah Ghali, Gautham Prabhakar, David Momtaz, Farhan Ahmad, Adam Abbas, Mahmoud Issa

Int J Spine Surg· December 2023

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Kidney-specific biomarkers for predicting acute kidney injury following cardiac arrest.
Noa Berlin, Rahul D Pawar, Xiaowen Liu, Lakshman Balaji, Andrea C Morton, Mahmoud S Issa

Resuscitation· September 2023

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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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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Mahmoud Issa

Acta Neuropathol· 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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Phenotypic continuum of NFU1-related disorders.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mahmoud Issa

Ann Clin Transl Neurol· December 2022

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