المؤلفون: Dana Marafi

المصدر: Disease Models & Mechanisms, Vol 17, Iss 6 (2024)

مصطلحات موضوعية: arab population, founder mutations, rare disease, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/17/6/dmm050715; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/1370ae8406c34015ad8fdbcef2d65993

المؤلفون: Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Biotin-thiamine-responsive, Basal ganglia, SLC19A3, Neurometabolic, Encephalopathy, Genetic, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/24ae6e5fe6ee456cbc8b7a2bb5c1a858

المؤلفون: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: autosomal recessive, copy number variant, ELOVL4, neuro‐ichthyosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999df

المؤلفون: Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/cb34fe521e7d4c82ae7f6de309954374

المؤلفون: Mohammed Almannai, Dana Marafi, Ayman W. El-Hattab

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: WIPI, WD repeat domain, autophagy, neurodevelopment, WDR, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.1011918/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/01ed77a58aef4986a617b0f56f4f0588

المؤلفون: 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

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/8027663439ce453b9d8a5847b2e2185f

المؤلفون: Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1395-1406 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/9d511280f1404c109361e822b7aacab6

المؤلفون: Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello

المصدر: The American Journal of Human Genetics. 110:681-690

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005

المؤلفون: Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski

المصدر: Am J Hum Genet

مصطلحات موضوعية: Male, Phenotype, Report, Intellectual Disability, Genetics, Humans, Muscle Hypotonia, Female, Syndrome, Autistic Disorder, Genetics (clinical), Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b61ee89f14b3694fc324655a475d07
https://doi.org/10.1016/j.ajhg.2022.10.007

المؤلفون: Veronica Ferrucci, Luca Russolillo, Giulia Redi, Fatemeh Asadzadeh, Vincenzo Salpietro, Peter De Wulf, Luca L. Fava, Bader Alhaddad, Mert Karakaya, Brunhilde Wirth, Dana Marafi, Ender Karaca, James R. Lupski, Thomas Wieland, Henry Houlden, Massimo Zollo

المساهمون: Ferrucci, Veronica, Russolillo, Luca, Redi, Giulia, Asadzadeh, Fatemeh, Salpietro, Vincenzo, De Wulf, Peter Arthur Irene, Fava, Luca L., Alhaddad, Bader, Karakaya, Mert, Wirth, Brunhilde, Marafi, Dana, Karaca, Ender, Lupski, James R., Wieland, Thoma, Houlden, Henry, Zollo, Massimo

Relation: ispartofbook:Abstracts of the AGI_SIMAG Joint Meeting 2023; AGI_SIMAG Joint Meeting 2023; https://hdl.handle.net/11572/437712

الاتاحة: https://hdl.handle.net/11572/437712

المؤلفون: Monica Penon‐Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban‐Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh

المصدر: American Journal of Medical Genetics Part A. 188:2360-2366

مصطلحات موضوعية: Proteomics, Kidney Diseases, Cystic, Megalencephaly, Retina, Polydactyly, Zinc, Cerebellum, Genetics, Humans, Abnormalities, Multiple, Ataxia, Female, Hedgehog Proteins, Eye Abnormalities, Cation Transport Proteins, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ad4c75a2c06746d400fd9576a5035f5
https://doi.org/10.1002/ajmg.a.62872

المؤلفون: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver

المصدر: Genet Med

مصطلحات موضوعية: Phenotype, Exome Sequencing, Humans, Exome, Genomics, Article, Genetic Association Studies, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15
https://doi.org/10.1016/j.gim.2021.12.005

المؤلفون: Hasnaa M. Elbendary, Dana Marafi, Ahmed K. Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N. Jhangiani, Richard A. Gibbs, Davut Pehlivan, Daniel G. Calame, Jennifer E. Posey, James R. Lupski, Maha S. Zaki

المصدر: Clinical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9a346d62091fa73c2005012a00d01d92
https://doi.org/10.1111/cge.14348

المؤلفون: Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Monique T Mulder, Sandra den Hoedt, Grace Yoon, Ashish R Deshwar, Christina Kresge, Beth Pletcher, Maura van Mook, Marta Serio Ferreira, Raymond A Poot, Johan A Slotman, Gert-Jan Kremers, Abeer Ahmad, Buthaina Albash, Laila Bastaki, Dana Marafi, Jordy Dekker, Tjakko J van Ham, Laurent Nguyen, Grazia M S Mancini

المصدر: Brain.

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b9f4b88e557c37bd1237a4db1bf20f3
https://doi.org/10.1093/brain/awad033

المؤلفون: Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

مصطلحات موضوعية: Dystonia, VMAT2, Brain monoamine vesicular transport disease, Dopamine agonist, SLC18A2, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547

المؤلفون: Shalini N. Jhangiani, Ziad Khan, Richard A. Gibbs, Mohamed Abdelhamid, Inas S. M. Sayed, James R. Lupski, Dana Marafi, Jennifer E. Posey, Ghada M H Abdel-Salam, Haowei Du, Ruizhi Duan

المصدر: American Journal of Medical Genetics Part A. 188:648-657

مصطلحات موضوعية: Genetics, Nonsense-mediated decay, Biology, medicine.disease, Microphthalmia, Phenotype, Stop codon, Neurodevelopmental disorder, medicine, Allele, Kinase activity, Exome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17c600588af1e1e76eb79b6da5a57639
https://doi.org/10.1002/ajmg.a.62561

المؤلفون: E El-Anany, Jennifer E. Posey, Shalini N. Jhangiani, S Guliyeva, Jill A. Rosenfeld, Khalid A. Fakhro, Vasiliki Karageorgou, A A Subhi, R. A. Gibbs, A Al-Maraghi, Sarah H. Elsea, Amal Alhashem, Henry Houlden, Charul Gijavanekar, M S Breilyn, Dana Marafi, Joseph G. Gleeson, Christian Beetz, E Sites, Hessa S. Alsaif, Vernon R. Sutton, Jill V. Hunter, Fowzan S. Alkuraya, M Zakkariah, C Gaba, James R. Lupski, Erin Torti, Davut Pehlivan, Z. Coban Akdemir, Matteo P. Ferla, S Duberstein, Haowei Du, Mohamed S. Abdel-Hamid, Ulviyya Guliyeva, M Sebastin, Jenny C. Taylor, E Danish, Reza Maroofian, A Haseeb, Rauan Kaiyrzhanov, Maha S. Zaki, Mohammed Al-Owain, S V Mullegama, Ning Liu, Jawid M Fatih, Tadahiro Mitani

المصدر: Brain

مصطلحات موضوعية: Genetics, Microcephaly, Nitrogen, Glutamine, Biology, medicine.disease, Sodium-Calcium Exchanger, Hypotonia, Solute carrier family, Epilepsy, Metabolome, medicine, Humans, Original Article, Epilepsy, Generalized, Histidine, Neurology (clinical), Global developmental delay, medicine.symptom, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f130cdf3a22713ed899327cf8be36a86
https://doi.org/10.1093/brain/awab369

المؤلفون: Sevcan Tug Bozdogan, Ahmet C. Ceylan, Alper Gezdirici, Sukru Candan, Harsha Doddapaneni, Daniel G. Calame, Muhsin Elmas, Özlem Sezer, Shalini N. Jhangiani, Osman Yeşilbaş, Davut Gul, Sinem Yalcintepe, Nursel Elcioglu, Akif Ayaz, Jennifer E. Posey, Ozge Ozalp, Haowei Du, Yavuz Bayram, Betül Kılıç, Moez Dawood, Hatip Aydin, Serdal Güngör, Angad Jolly, Ender Karaca, Haktan Bağış Erdem, Vehap Topcu, Christopher M. Grochowski, Sedat Işıkay, Elif Yilmaz Gulec, Richard A. Gibbs, Ruizhi Duan, Emine Demiral, Donna M. Muzny, Jianhong Hu, Jaya Punetha, Tadahiro Mitani, Tulay Tos, Davut Pehlivan, Huseyin Aslan, Jawid M Fatih, Isabella Herman, Gozde Yesil, Salih Cicek, Zeynep Coban Akdemir, Bilgen Bilge Geçkinli, James R. Lupski, Claudia M.B. Carvalho, Gulsen Akay, Dana Marafi

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, Turkish population, Adolescent, Turkey, Alu-Alu Mediated Rearrangement (AAMR), Identity-By-Descent (IBD), Genomics, Runs of Homozygosity, Biology, Article, Cohort Studies, Young Adult, Exome Reanalysis, Exome Sequencing, Prevalence, Genetics, Humans, Child, Genetics (clinical), Exome sequencing, Whole genome sequencing, Multilocus Pathogenic Variation, Genetic heterogeneity, Haplotype, Infant, Newborn, Infant, Middle Aged, Runs of Homozygosity (ROH), Pedigree, Phenotype, Neurodevelopmental Disorders, Child, Preschool, Mutation, Whole-Genome Sequencing, Etiology, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286494a6f075e75375bf1f2e63bb3558
https://doi.org/10.1016/j.ajhg.2021.08.009

المؤلفون: Richard A. Gibbs, Vidya Mehta, Tadahiro Mitani, Shalini N. Jhangiani, James R. Lupski, Isabella Herman, Timothy Lotze, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Daniel G. Calame, Dana Marafi, Farida Abid, Jawid M Fatih, Jennifer E. Posey, Adekunle M. Adesina, Carrie A. Mohila

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)

مصطلحات موضوعية: Proband, Muscle biopsy, medicine.diagnostic_test, Case Study, business.industry, General Neuroscience, In silico, Alternative splicing, Emerin, Neurosciences. Biological psychiatry. Neuropsychiatry, Computational biology, medicine.disease, RNA splicing, Medicine, Neurology (clinical), Neurology. Diseases of the nervous system, Muscular dystrophy, business, RC346-429, Exome sequencing, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::961ca042c9e9ed7146146386d20f58d4
http://europepmc.org/articles/PMC8528454

المؤلفون: Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M. Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban‐Akdemir, Fritz J. Sedlazeck, Jill V. Hunter, Shalini N. Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E. Posey, Claudia M. B. Carvalho, Richard A. Gibbs, James R. Lupski

المصدر: American journal of medical genetics. Part AREFERENCES.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06de6c9e5459e6a8adf00f570754c1be
https://pubmed.ncbi.nlm.nih.gov/36598158