Oyvind L Busk

Oyvind L Busk

UNVERIFIED PROFILE

Are you Oyvind L Busk?   Register this Author

Register author
Oyvind L Busk

Oyvind L Busk

Publications by authors named "Oyvind L Busk"

Are you Oyvind L Busk?   Register this Author

13Publications

311Reads

24Profile Views

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

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

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing".

Biomed Res Int 2015 8;2015:314651. Epub 2015 Oct 8.

Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/314651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617881PMC
February 2016

Clinical exome sequencing – Norwegian findings.

Tidsskr Nor Laegeforen 2015 Nov 3;135(20):1833-7. Epub 2015 Nov 3.

Seksjon for medisinsk genetikk Avdeling for laboratoriemedisin Sykehuset Telemark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.14.1442DOI Listing
November 2015

Hereditary peripheral neuropathies diagnosed by next-generation sequencing.

Tidsskr Nor Laegeforen 2015 Nov 3;135(20):1838-44. Epub 2015 Nov 3.

Seksjon for medisinsk genetikk Avdeling for laboratoriemedisin Sykehuset Telemark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.14.1002DOI Listing
November 2015

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Biomed Res Int 2014 16;2014:210401. Epub 2014 Jun 16.

Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Norway ; Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Norway.

View Article

Download full-text PDF

Source
http://downloads.hindawi.com/journals/bmri/2014/210401.pdf
Web Search
http://www.hindawi.com/journals/bmri/2014/210401/
Publisher Site
http://dx.doi.org/10.1155/2014/210401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082881PMC
March 2015

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.

Endoscopy 2014 Jun 28;46(6):533-7. Epub 2014 Apr 28.

Department of Pathology, Telemark Hospital, Skien, Norway.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0034-1365142
Publisher Site
http://dx.doi.org/10.1055/s-0034-1365142DOI Listing
June 2014

Cytosol protein regulation in H295R steroidogenesis model induced by the zearalenone metabolites, α- and β-zearalenol.

Toxicon 2012 Jan 20;59(1):17-24. Epub 2011 Oct 20.

Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, P.O. Box 5003, N-1432 Ås, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.toxicon.2011.10.007DOI Listing
January 2012

Relative quantification of the proteomic changes associated with the mycotoxin zearalenone in the H295R steroidogenesis model.

Toxicon 2011 Nov 1;58(6-7):533-42. Epub 2011 Sep 1.

Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Ås, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.toxicon.2011.08.015DOI Listing
November 2011

Identification of surface proteins in Enterococcus faecalis V583.

BMC Genomics 2011 Mar 1;12:135. Epub 2011 Mar 1.

Department of Chemistry, Biotechnology, and Food Science, The Norwegian University of Life Sciences, Ås, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-12-135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059304PMC
March 2011