Publications by authors named "Christoffer Nellåker"

26Publications

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:

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

Big data phenotyping in rare diseases: some ethical issues.

Genet Med 2019 02;21(2):272-274

Big Data Institute, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/s41436-018-0067-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752288PMC
February 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

Cell Rep 2014 Nov 13;9(4):1482-94. Epub 2014 Nov 13.

MRC Human Genetics Unit, IGMM, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK; Department of Molecular Biosciences, Wenner Gren Institute, Stockholm University, 106 91 Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.10.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542304PMC
November 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Diagnostically relevant facial gestalt information from ordinary photos.

Elife 2014 Jun 24;3:e02020. Epub 2014 Jun 24.

Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067075PMC
http://dx.doi.org/10.7554/eLife.02020DOI Listing
June 2014

The genomic landscape shaped by selection on transposable elements across 18 mouse strains.

Genome Biol 2012 Jun 15;13(6):R45. Epub 2012 Jun 15.

MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1186/gb-2012-13-6-r45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446317PMC
June 2012

Rapid turnover of functional sequence in human and other genomes.

Annu Rev Genomics Hum Genet 2011 ;12:275-99

Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom.

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http://dx.doi.org/10.1146/annurev-genom-090810-183115DOI Listing
October 2011

A systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation.

BMC Genomics 2011 Jan 12;12:22. Epub 2011 Jan 12.

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1186/1471-2164-12-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031232PMC
January 2011

Expression profiling of repetitive elements by melting temperature analysis: variation in HERV-W gag expression across human individuals and tissues.

BMC Genomics 2009 Nov 17;10:532. Epub 2009 Nov 17.

Department of Neuroscience, Karolinska Institutet, Retzius Väg 8 B2:5, 17177 Stockholm, Sweden.

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http://dx.doi.org/10.1186/1471-2164-10-532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779825PMC
November 2009

Mixture models for analysis of melting temperature data.

BMC Bioinformatics 2008 Sep 11;9:370. Epub 2008 Sep 11.

Department of Neuroscience, Karolinska Institutet, Retzius Väg, Stockholm, Sweden.

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http://dx.doi.org/10.1186/1471-2105-9-370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567994PMC
September 2008

Influenza A virus transactivates the mouse envelope gene encoding syncytin B and its regulator, glial cells missing 1.

J Neurovirol 2007 ;13(1):29-37

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1080/13550280601103125DOI Listing
July 2007

Molecular beacon-based temperature control and automated analyses for improved resolution of melting temperature analysis using SYBR I green chemistry.

Clin Chem 2007 Jan 16;53(1):98-103. Epub 2006 Nov 16.

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1373/clinchem.2006.075184DOI Listing
January 2007

Transactivation of elements in the human endogenous retrovirus W family by viral infection.

Retrovirology 2006 Jul 6;3:44. Epub 2006 Jul 6.

The Department of Neuroscience, Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1186/1742-4690-3-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1539011PMC
July 2006

Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification.

Mol Cell Probes 2006 Oct 21;20(5):311-6. Epub 2006 Apr 21.

Department of Neuroscience, Karolinska Institute, Retzius vag 8, S-171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.mcp.2006.03.003DOI Listing
October 2006