Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation

Autor: Charlotte Gibbs, Jacob Thalamus, Kristian Tveten, Øyvind L. Busk, Jan Hysing, Kristina H. Haugaa, Øystein L. Holla

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 7, Iss 16 (2018)

Background Congenital long‐QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the corrected QT interval (QTc) on an ECG. The aim of the present study was to estimate the prevalence of pathogenic and likely pathogenic sequence

Externí odkaz: https://doaj.org/article/98be919e655845e281bb9bf9ebe600e4

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Autor: Marie F. Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel, Cecilie V Nordbakken, Mona Nystad, Øystein L. Holla, Miikka Vikkula

Publikováno v: Journal of medical genetics, Vol. 60, no. 1, p. 57-64 (2023)

BackgroundHydrops fetalis, a pathological fluid accumulation in two or more body compartments, is aetiologically heterogeneous. We investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydrops fetalis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff75945ae14c31b3f99220759512670
https://hdl.handle.net/2078.1/254561

Targeted sequencing of 130 asthma candidate genes and association testing of rare variants with age of onset in Norwegian asthma patients

Autor: Øyvind L. Busk, Geir Klepaker, Christian M. Page, Anne Kristin Møller Fell, Gry B. N. Nordang, Øystein L. Holla, Marissa LeBlanc

Publikováno v: Epidemiology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0d336a6fc7dfc85b58b0d1fbe00a3fc
https://doi.org/10.1183/13993003.congress-2021.pa1738

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Autor: Victor Krajka, Arndt Rolfs, Joanne Trinh, Rami Abou Jamra, Kristian Tveten, Geir J. Braathen, Rabea Affan, Mohammed Al Balwi, Frauke Hinrichs, Øystein L. Holla, Marija Dulovic-Mahlow, Maximilian E. R. Weiss, Nataliya Di Donato, Shivendra Kishore, Skadi Beblo, Martin Werber, Krishna Kumar Kandaswamy, Elisa Rahikkala, Katja Lohmann, Nouriya Al-Sannaa, Øyvind L. Busk, Gabriela Oprea, Hauke Baumann, Nir Navot, Anne-Karin Kahlert, Melissa Vos

Publikováno v: The American Journal of Human Genetics. 105:213-220

De novo variants represent a significant cause of neurodevelopmental delay and intellectual disability. A genetic basis can be identified in only half of individuals who have neurodevelopmental disorders (NDDs); this indicates that additional causes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a1c3003604ddf1836c9655987c0557
https://doi.org/10.1016/j.ajhg.2019.05.005

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Autor: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3

Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b42ef2b2b430d69e0a64d8edee87da3
https://doi.org/10.1016/j.ajhg.2019.01.010