Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis

Autor: Raniah Saleem Alotibi, Mariam M. Al Eissa, Taghrid Aloraini, Khalidah Khalid Nasser, Muneera J. Al Shammari, Amerh S. Alqahtani

Publikováno v: Saudi Journal of Medicine and Medical Sciences, Vol 12, Iss 4, Pp 292-298 (2024)

Background Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or deletion of D

Externí odkaz: https://doaj.org/article/9e8b5552cd8d40f7bd0fee3a6e5fa7db

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia

Autor: Adel Abuzenadah, Nofe Alganmi, Raghad AlQurashi, Esraa Hawsa, Abdullah AlOtibi, Abdulrahman Hummadi, Ahmed Ali Nahari, Somaya AlZelaye, Nasser R. Aljuhani, Manal Al-Attas, Heba Abusamra, Shereen Turkistany, Sajjad Karim, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudhary, Mariam M. Al Eissa

Publikováno v: Journal of Epidemiology and Global Health, Vol 14, Iss 1, Pp 162-168 (2024)

Abstract Background Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by

Externí odkaz: https://doaj.org/article/77f892a1ac48446da3a7bc8d65a5ff3d

Prospect of genetic disorders in Saudi Arabia

Autor: Amerh S. Alqahtani, Raniah S. Alotibi, Taghrid Aloraini, Fahad Almsned, Yara Alassali, Ahmed Alfares, Bader Alhaddad, Mariam M. Al Eissa

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Introduction: Rare diseases (RDs) create a massive burden for governments and families because sufferers of these diseases are required to undergo long-term treatment or rehabilitation to maintain a normal life. In Saudi Arabia (SA), the prevalence o

Externí odkaz: https://doaj.org/article/a833fb18a8b94d34b8880c29e369f3f4

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Autor: James McKay, Frank Bellivier, Mark A. Frye, Bertram Müller-Myhsok, Fermín Mayoral, I. Nicol Ferrier, Marion Leboyer, Fabian Streit, Dan J. Stein, James L. Kennedy, Christine Søholm Hansen, Scott D. Gordon, Beata Świątkowska, Valentina Escott-Price, Michael Bauer, Lina Martinsson, Donald J. MacIntyre, Oleksandr Frei, Daniel J. Smith, Sara A. Paciga, Takeo Saito, Jennifer L. Moran, Verneri Antilla, C Pantelis, Tomas Olsson, Swapnil Awasthi, Lena Backlund, Eirini Maratou, Martin Schalling, John B. Vincent, Niamh Mullins, Sarah E. Bergen, Niamh L. O'Brien, Marco P. Boks, Carsten Bøcker Pedersen, Mikael Landén, Franziska Degenhardt, Hang Zhou, Margarita Rivera, Andrew M. McIntosh, Manuel Mattheisen, Shawn Levy, Roy H. Perlis, John P. Rice, Sigurdur H. Magnusson, Amanda Dobbyn, Michael Conlon O'Donovan, Julien Bryois, Wolfgang Maier, John-Anker Zwart, J. Raymond DePaulo, Martin Alda, Laura G. Sloofman, Friederike Sophie David, James A. Knowles, Aiden Corvin, Thomas G. Schulze, Markus M. Nöthen, Nolan Kamitaki, Nina Dalkner, Brandon J. Coombes, Gustavo Turecki, Allan H. Young, Caroline M. Nievergelt, Patricia T. Michie, Ingrid Agartz, Towfique Raj, Diego Albani, Maria Grigoroiu-Serbanescu, Bernhard T. Baune, Kyooseob Ha, Vincent Millischer, Engilbert Sigurdsson, Eva C. Beins, Nicholas G. Martin, Gulja Babadjanova, Josef Frank, Eva Z. Reininghaus, Patrick F. Sullivan, Ian R. Gizer, Guy A. Rouleau, Carmel M. Loughland, Christine Lochner, Thorsten M. Kranz, Amy Perry, Arne E. Vaaler, Mariam M. Al Eissa, Simon Xi, Claire O'Donovan, Josep Antoni Ramos-Quiroga, Ketil J. Oedegaard, Helmut Vedder, Carol A. Mathews, Panagiotis Ferentinos, Tim B. Bigdeli, Derek W. Morris, Per Hoffmann, Mark Hyman Rapaport, Peter P. Zandi, Michael John Owen, Douglas M. Ruderfer, Anders D. Børglum, Catharina Lavebratt, Thorgeir E. Thorgeirsson, Paul A. Tooney, Michiaki Kubo, Steven A. Kushner, Jan Hillert, Loes M. Olde Loohuis, Anastasia Antoniou, Murielle Brum, Chikashi Terao, Nathaniel W. McGregor, Fabio Rivas, James B. Potash, Kevin S. O’Connell, Susanne Lucae, Brian M. Schilder, Katrin Gade, Stephan Ripke, Kristina Adorjan, Kari Stefansson, Tiffany A. Greenwood, Panos Roussos, Sarah Kittel-Schneider, Steven A. McCarroll, Sergi Papiol, Heon Jeong Lee, Assen Jablensky, Liliya Abramova, Dennis Hellgren, Jonas Bybjerg-Grauholm, Martin Lundberg, Hong-Hee Won, William Byerley, Lars Alfredsson, Joel Gelernter, Andrew McQuillin, Claire Slaney, Marta Ribasés, Stephanie H. Witt, Yoichiro Kamatani, Kyung Sue Hong, Marie Bækvad-Hansen, María Soler Artigas, Julie M. Cunningham, Fanny Senner, Stacy Steinberg, Paul D. Shilling, Nakao Iwata, Eystein Stordal, Armin Birner, Sarah E. Medland, Miquel Casas, Ben Michael Brumpton, Erlend Bøen, Bryan J. Mowry, Jolanta Lissowska, Francis J. McMahon, Howard J. Edenberg, Grant W. Montgomery, John I. Nurnberger, Stéphane Jamain, Claudio Toma, Ney Alliey-Rodriguez, Ole Mors, Micha Gawlik, David Curtis, Catrin Lewis, Evangelia-Eirini Tsermpini, Georgia Panagiotaropoulou, Marcella Rietschel, Jessica Yang, Ian Jones, Eduard Vieta, Ole A. Andreassen, Richard M. Myers, Dimitris Dikeos, Melissa J. Green, Janet L. Sobell, Maria Koromina, Piotr M. Czerski, Lilijana Oruc, Sven Cichon, Udo Dannlowski, Bruno Etain, Monika Budde, Alessia Fiorentino, Naomi R. Wray, Qingqin S. Li, Murray J. Cairns, Jonathan R. I. Coleman, Jose Guzman-Parra, Andreas J. Forstner, Hannah Young, Alfredo B. Cuellar-Barboza, Julian Roth, Torbjørn Elvsåshagen, Zhen Qiao, Thomas Werge, Athanassios Douzenis, Cristiana Cruceanu, Rolf Adolfsson, Peter Holmans, Vaughan J. Carr, Thomas W. Weickert, Masashi Ikeda, Joanna M. Biernacka, Lea Sirignano, Adam X. Maihofer, Ralph W. Kupka, John Strauss, Anders M. Dale, Elliot S. Gershon, Jakob Grove, Arianna Di Florio, Helena Medeiros, Ingrid Melle, Preben Bo Mortensen, Kristi Krebs, Saskia P. Hagenaars, Liz Forty, Stanley V. Catts, David M. Hougaard, Marianne Giørtz Pedersen, Andreas Reif, Toni-Kim Clarke, Anne T. Spijker, Danielle Posthuma, Manolis Kogevinas, Michael Boehnke, Rosa Bosch, Gerome Breen, Benjamin M. Neale, Jessica S. Johnson, Katherine Gordon-Smith, Cristina Sánchez-Mora, Alexander W. Charney, Henry R. Kranzler, Digby Quested, René S. Kahn, Lili Milani, Merete Nordentoft, Nathalie Brunkhorst-Kanaan, Laura M. Huckins, James T.R. Walters, Sigrid Børte, Antonio F. Pardiñas, Kristian Hveem, Julie Garnham, Jacob Lawrence, Vassily Trubetskoy, Rodney J. Scott, Nicholas Bass, Carlos N. Pato, Andrea Pfennig, Wei Xu, Calwing Liao, Nicholas John Craddock, Thomas Damm Als, Christina M. Hultman, Fernando S. Goes, Adebayo Anjorin, Evgenia Porichi, Frans Henskens, Nelson B. Freimer, Janice M. Fullerton, Cathryn M. Lewis, Srdjan Djurovic, Roel A. Ophoff, Phil Lee, Peter McGuffin, Gunnar Morken, George P. Patrinos, Alessandro Serretti, Cynthia Shannon Weickert, Pablo Cervantes, Bendik S. Winsvold, Tatiana Foroud, Tõnu Esko, Ulrich Schall, Michele T. Pato, Ji Hyun Baek, John R. Kelsoe, Olav B. Smeland, Janos Kalman, Eva C. Schulte, Joanna Hauser, Urs Heilbronner, Magnús Haraldsson, Martin Hautzinger, Lea Zillich, Eline J. Regeer, Douglas Blackwood, Laura J. Scott, Jordan W. Smoller, Michael J. Gandal, Marquis P. Vawter, Philip B. Mitchell, Ole Kristian Drange, Peter R. Schofield, Susanne Bengesser, Stefan Herms, George Kirov, Markus Leber, Louise Frisén, Thomas W. Mühleisen, Susan L. McElroy, Irwin D. Waldman, Wade H. Berrettini, Sally I. Sharp, Minsoo Kim, Lisa Jones, Eli A. Stahl, Hreinn Stefansson, Esben Agerbo, Dolores Malaspina

Publikováno v: Nature genetics 53(6), 817-829 (2021). doi:10.1038/s41588-021-00857-4
Nature genetics, 53(6), 817-829. Nature Publishing Group
Nature Genetics, 53(6), 817-829. Nature Publishing Group
HUNT All-In Psychiatry 2021, ' Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology ', Nature genetics, vol. 53, no. 6, pp. 817-829 . https://doi.org/10.1038/s41588-021-00857-4
NATURE GENETICS
HUNT All-In Psychiatry 2021, ' Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology ', Nature Genetics, vol. 53, no. 6, pp. 817-829 . https://doi.org/10.1038/s41588-021-00857-4
Nature genetics
Nature Genetics
Nature Genetics, 2021, 53 (6), pp.817-829. ⟨10.1038/s41588-021-00857-4⟩
Mullins, N, Forstner, A J, O'Connell, K S, Coombes, B, Coleman, J R I, Qiao, Z, Als, T D, Bigdeli, T B, Børte, S, Bryois, J, Charney, A W, Drange, O K, Gandal, M J, Hagenaars, S P, Ikeda, M, Kamitaki, N, Kim, M, Krebs, K, Panagiotaropoulou, G, Schilder, B M, Sloofman, L G, Steinberg, S, Trubetskoy, V, Winsvold, B S, Won, H-H, Abramova, L, Adorjan, K, Agerbo, E, Al Eissa, M, Albani, D, Alliey-Rodriguez, N, Anjorin, A, Antilla, V, Antoniou, A, Awasthi, S, Baek, J H, Bækvad-Hansen, M, Bass, N, Bauer, M, Beins, E C, Bergen, S E, Birner, A, Bøcker Pedersen, C, Giørtz Pedersen, M, Grove, J, Mattheisen, M, Xu, W, Børglum, A D, Mors, O, Mortensen, P B & HUNT All-In Psychiatry 2021, ' Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology ', Nature Genetics, vol. 53, no. 6, pp. 817-829 . https://doi.org/10.1038/s41588-021-00857-4
Nature Genetics, Nature Publishing Group, 2021, 53 (6), pp.817-829. ⟨10.1038/s41588-021-00857-4⟩

International audience; Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated geno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6102bf5c0e43b6d3b2b8413fbe5784
https://hdl.handle.net/2128/29943

Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia

Autor: Mariam M, Al Eissa, Alessia, Fiorentino, Sally I, Sharp, Niamh L, O'Brien, Kate, Wolfe, Giovanni, Giaroli, David, Curtis, Nicholas J, Bass, Andrew, McQuillin

Publikováno v: Annals of Human Genetics

Summary Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29f21988a0bcbf98213fbdafb6016f12
https://pubmed.ncbi.nlm.nih.gov/29148569