Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Autor: Cali, Elisa, Quirin, Tania, Rocca, Clarissa, Efthymiou, Stephanie, Riva, Antonella, Marafi, Dana, Zaki, Maha S., Suri, Mohnish, Dominguez, Roberto, Elbendary, Hasnaa M., Alavi, Shahryar, Abdel-Hamid, Mohamed S., Morsy, Heba, Mau-Them, Frederic Tran, Nizon, Mathilde, Tesner, Pavel, Ryba, Lukáš, Zafar, Faisal, Rana, Nuzhat, Saadi, Nebal W., Firoozfar, Zahra, Gencpinar, Pinar, Unay, Bulent, Ustun, Canan, Bruel, Ange-Line, Coubes, Christine, Stefanich, Jennifer, Sezer, Ozlem, Agolini, Emanuele, Novelli, Antonio, Vasco, Gessica, Lettori, Donatella, Milh, Mathieu, Villard, Laurent, Zeidler, Shimriet, Opperman, Henry, Strehlow, Vincent, Issa, Mahmoud Y., El Khassab, Hebatallah, Chand, Prem, Ibrahim, Shahnaz, Nejad-Rashidi, Ali, Miryounesi, Mohammad, Larki, Pegah, Morrison, Jennifer, Cristian, Ingrid, Thiffault, Isabelle, Bertsch, Nicole L., Noh, Grace J., Pappas, John, Moran, Ellen, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Hosseini, Susan, Abbaszadegan, Mohammad Reza, Caumes, Roseline, Vissers, Lisenka E.L.M., Neshatdoust, Maedeh, Montazer, Mostafa Zohour, El Fahime, Elmostafa, Canavati, Christin, Kamal, Lara, Kanaan, Moien, Askander, Omar, Voinova, Victoria, Levchenko, Olga, Haider, Shahzhad, Halbach, Sara S., Maia, Elias Rayana, Mansoor, Salehi, Vivek, Jain, Tawde, Sanjukta, Challa, Viveka Santhosh R., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Victor, Lucas Alves, Pinero-Banos, Benito, Hague, Jennifer, Ei-Awady, Heba Ahmed, Maria de Miranda Henriques-Souza, Adelia, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Idkaidak, Sara, Alqarajeh, Firas, Atawneh, Osama, Mor-Shaked, Hagar, Harel, Tamar, Zifarelli, Giovanni, Bauer, Peter, Kok, Fernando, Kitajima, Joao Paulo, Monteiro, Fabiola, Josahkian, Juliana, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothe, Murphy, David, Neul, Jeffrey L., Mullegama, Sureni V., Begtrup, Amber, Herman, Isabella, Mitani, Tadahiro, Posey, Jennifer E., Tay, Chee Geap, Javed, Iram, Carr, Lucinda, Kanani, Farah, Beecroft, Fiona, Hane, Lee, Abdelkreem, Elsayed, Macek, Milan, Bispo, Luciana, Elmaksoud, Marwa Abd, Hashemi-Gorji, Farzad, Pehlivan, Davut, Amor, David J., Jamra, Rami Abou, Chung, Wendy K., Ghayoor, Eshan Karimiani, Campeau, Philippe, Alkuraya, Fowzan S., Pagnamenta, Alistair T., Gleeson, Joseph, Lupski, James R., Striano, Pasquale, Moreno-De-Luca, Andres, Lafontaine, Denis L.J., Houlden, Henry, Maroofian, Reza

Publikováno v: In Genetics in Medicine September 2024

Impact of Disorders of Sex Development on Egyptian Parents and Factors Affecting Them.

Autor: Elmaksoud, Marwa Abd¹, Ali, Hala², Gharib, Bayoumi¹, Othman, Sally S.³ sallysamir2015@alexu.edu.eg, Elsayed, Shaymaa¹

Publikováno v: Journal of High Institute of Public Health. 2022, Vol. 52 Issue 2, p65-72. 8p.

Cognitive and Behavioral Profile of Egyptian Children with Duchenne Muscular Dystrophy.

Autor: Khalil, Mona, Morsy, Nourhan Mohamed, Elmaksoud, Marwa Abd

Publikováno v: Alexandria Journal of Pediatrics; Jan-Apr2023, Vol. 36 Issue 1, p51-59, 9p

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Autor: Banks E; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Francis V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Kharfallah F; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Fonov V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Lévesque M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Han C; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Kulasekaran G; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Tuznik M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Bayati A; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Al-Khater R; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Argyriou L; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Bahlo M; Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, Australia., Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran., Barr E; Department of Human Genetics, Emory University, Atlanta, GA, USA., Bartik L; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Bassiony M; Faculty of Medicine, Alexandria University, Alexandria, Egypt., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Budetta M; Paediatric and Child Neurology Unit, Cava de' Tirreni AOU S. Giovanni di Dio e Ruggiero d'Aragona Hospital, Salerno, Italy., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Calame DG; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Cushing D; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada., Efthymiou S; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., El Said HG; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Gill HK; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Gogoll L; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hauser S; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany., Hoffman TL; Department of Regional Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Hogue JS; Madigan Army Medical Center, Tacoma, WA, USA., Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Houlden H; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Huynh S; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Kaulfuß S; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lee H; 3billion Inc, Seoul, South Korea., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Marco EJ; Cortica Healthcare, San Rafael, CA, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Minassian A; Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada., Minassian BA; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA., Murphy D; Department of Clinical and Movement Neurosciences, University College London (UCL) Queen Square Institute of Neurology, London, UK., Neira-Fresneda J; Department of Human Genetics, Emory University, Atlanta, GA, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Oehl-Jaschkowitz B; BIOSCIENTIA-MVZ-Labor-Saar-Practice of Human Genetics, Homburg (Saar), Germany., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Person R; GeneDx, Gaithersburg, MD, USA., Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine Children's Mercy, Kansas City, MO, USA., Schoels L; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Tos T; Department of Medical Genetics, University of Health Sciences, Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Ankara, Turkey., Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Zhou D; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC, Canada., Durcan TM; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Gan-Or Z; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada., Avoli M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Alves C; Division of Neuroradiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Maroofian R; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Rudko DA; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; McConnell Brain Imaging Centre, the Neuro, Montréal, QC, Canada.; Department of Biomedical Engineering, McGill University, Montréal, QC, Canada., McPherson PS; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada. peter.mcpherson@mcgill.ca.

Publikováno v: Nature communications [Nat Commun] 2024 Aug 22; Vol. 15 (1), pp. 7239. Date of Electronic Publication: 2024 Aug 22.