Mahmoud Y Issa (Mahmoud Issa)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 26

Top Venues

Proceedings of the National Academy of Sciences of the United States of America

Clinical genetics

American journal of medical genetics. Part A

Nature communications

National Research Centre

Ain shams (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

National Research Centre

Egypt

Researcher :: Clinical Genetics

Education History

Ain shams

Egypt

PHD

Publications

Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Nour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F Abdel-Ghafar, Fawzia Amer, Hebatallah M Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida Maria Bertoli-Avella, Marian Girgis, Joseph G Gleeson, Maha Saad Zaki, Laila Selim
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children. Clinical genetics 105 (5) (2024)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Mahmoud Y Issa, Mona A Hafez, Samir M Mounir, Sherif F Abdel Ghafar, Maha Saad Zaki, Mohamed S Abdel-Hamid
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome. American journal of medical genetics. Part A (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Emanuela Argilli, Kate E Chandler, Christian G E L De Goede, Tülün Cora, Javeria Raza Alvi, Atieh Eslahi, Mahsa Sadat Asl Mohajeri, Setareh Ashtiani, P Y Billie Au, Alicia Scocchia, Kirsi Alakurtti, Alistair T Pagnamenta, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Majid Mojarrad, Fatemeh Arab, Fahrettin Duymuş, Morris H Scantlebury, Gözde Yeşil, Jill Anne Rosenfeld, Ayberk Türkyılmaz, Safiye Güneş Sağer, Tipu Sultan, Farah Ashrafzadeh, Tatheer Zahra, Fatima Rahman, Shazia Maqbool, Mohamed S Abdel-Hamid, Mahmoud Y Issa, Stephanie Efthymiou, Peter Bauer, Giovanni Zifarelli, Vincenzo Salpietro, Zuhair Al-Hassnan, Siddharth Banka, Elliot H Sherr, Joseph G Gleeson, Pasquale Striano, Henry Houlden, Mariasavina Severino, Reza Maroofian
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain communications 5 (5) (2023)
Maha Saad Zaki, Wessam E Sharaf-Eldin, Karima Rafat, Hasnaa M Elbendary, Mona Kamel, Nour Elkhateeb, Mahmoud M Noureldeen, Mohamed A Abdeltawab, Abdelrahim A Sadek, Mona L Essawi, Tracy Lau, David Murphy, Mohamed S Abdel-Hamid, Henry Holuden, Mahmoud Y Issa, Joseph G Gleeson
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS. Clinical genetics (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A Kühn, Herma C van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Wouter de Laat, Monique T Mulder, George J G Ruijter, Dieter Lütjohann, Edwin H Jacobs, Henry Houlden, Alistair T Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H Hoefsloot, Tjakko J van Ham, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, Rob Willemsen, Namik Kaya, Stefan T Arold, Reza Maroofian, Leslie E Sanderson, Tahsin Stefan Barakat
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta neuropathologica (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Lu Wang, Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y Issa, Ole Andreas Andreassen, Anders M Dale, William B Dobyns, Maha Saad Zaki, Stephen A Murray, Joseph G Gleeson
TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America 120 (4) (2023)
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M Khalaf, Mohamed S Abdel-Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Y Issa, Jawaher Zeighami, Hasnaa M Elbendary, Garry Brown, Robert W Taylor, Hamid Galehdari, Joseph J Gleeson, Christopher J Carroll, James A Cowan, Andrés Moreno De Luca, Henry Houlden, Reza Maroofian
Phenotypic continuum of NFU1-related disorders. Annals of clinical and translational neurology (2022)
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S Stolerman, Sarah S Barnett, Margot A Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H Nemeth, Dhivyaa Rajasundaram, A Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R McCurry, John E Landers, Sameer Agnihotri, E Corina Andriescu, Shade B Moody, Chanika Phornphutkul, Maria J Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G Bönnemann, Matias Wagner, Mahmoud Y Issa, Hasnaa M Elbendary, Valentina Stanley, Reza Maroofian, Joseph G Gleeson, Maha Saad Zaki, Jan Senderek, Udai Bhan Pandey
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature communications 12 (1) (2021)
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Y Issa, Stéphane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid Hamid El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo Maria Santorelli, Cyril Goizet, Maha Saad Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Mignot Cyril, Alexandra Dürr, Aleksandra Trifunovic, Giovanni Stevanin
Implication of folate deficiency in CYP2U1 loss of function. The Journal of experimental medicine 218 (11) (2021)
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C E Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, null null, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha Saad Zaki, Reza Maroofian, Joseph G Gleeson
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European journal of human genetics : EJHG 29 (2) (2020)
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Y Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O'Connell, Henry Houlden
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. Journal of medical genetics 58 (7) (2020)
Maha Saad Zaki, Ghada A Otaify, Samira Ismail, Mahmoud Y Issa, Mona O El-Ruby, Abdelrahim A Sadek, Engy A Ashaat, Sonia A El Saeidi, Mona S Aglan, Samia Temtamy, Mohamed S Abdel-Hamid
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. American journal of medical genetics. Part A 182 (12) (2020)
Sara H El-Dessouky, Mahmoud Y Issa, Mona M Aboulghar, Hassan M Gaafar, Ahmed Ezz Elarab, Mohamed I Ateya, Heba H Omar, Christian Beetz, Maha Saad Zaki
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant. American journal of medical genetics. Part A 182 (12) (2020)
María Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F Tizzano, Victor Martínez-González, Jaime J Carvajal, Ruiting Zong, David L Nelson, Ghada A Otaify, Samia Temtamy, Mona Aglan, Mahmoud Y Issa, Carsten G Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L Ruiz-Perez
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nature communications 10 (1) (2019)
Jennifer Friedman, Desiree E Smith, Mahmoud Y Issa, Valentina Stanley, Rengang Wang, Marisa I Mendes, Meredith S Wright, Kristen Wigby, Amber Hildreth, John R Crawford, Alanna E Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T Tran, Tarek E I Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F Kingsmore, Gajja S Salomons, Maha S Zaki, Geneviève Bernard, Joseph G Gleeson
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nature communications 10 (1) (2019)

Mahmoud Y Issa.css-eqlu8i{font-size:small;padding-left:4px;} (Mahmoud Issa)

Publication Activity (10 Years)

Top Topics

Top Venues

Mahmoud Y Issa (Mahmoud Issa)