WIPI proteins: Biological functions and related syndromes by Mohammed Almannai, Dana Marafi, Ayman W. El-Hattab, Ayman W. El-Hattab, Ayman W. El-Hattab

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Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline by Mohammed Almannai, Mohammed Almannai, Ayman W. El-Hattab, Ayman W. El-Hattab

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The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer by Rami A. Ballout, Ayman W. El-Hattab

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Cerebral folate deficiency: A report of two affected siblings by Rabah Almahmoud, Mohammed Mekki, Ayman W. El-Hattab

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Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes by Mohammed Almannai, Azza Salah, Ayman W. El-Hattab

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Carnitine Inborn Errors of Metabolism by Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab

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Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders by Mode Al Ojaimi, Azza Salah, Ayman W. El-Hattab

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Metabolic Seizures by Mohammed Almannai, Rabah A. Al Mahmoud, Rabah A. Al Mahmoud, Mohammed Mekki, Mohammed Mekki, Ayman W. El-Hattab, Ayman W. El-Hattab

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De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report by Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab

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Arginine and Citrulline for the Treatment of MELAS Syndrome by Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG

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17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a cas... by Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab

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Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians by Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson

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Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases by Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W El-Hattab

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Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates by Howaida Khair, Serene Hilary, Shamsa Al Awar, Kornelia Zareba, Sara Maki, Gehan Sayed, Sharon Mutare, Ayman W. El-Hattab, Ali Hussein Al Ibrahim

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Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. by Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. by Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong

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Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes by Michael J. Xie, Gareth A. Cromie, Katherine Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El-Hattab, Richard N. McLaughlin, Aimée M. Dudley

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Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes. by Michael J Xie, Gareth A Cromie, Katherine Owens, Martin S Timour, Michelle Tang, J Nathan Kutz, Ayman W El-Hattab, Richard N McLaughlin, Aimée M Dudley

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy by Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski

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