Jayne Y Hehir-Kwa

Jayne Y Hehir-Kwa

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Jayne Y Hehir-Kwa

Jayne Y Hehir-Kwa

Publications by authors named "Jayne Y Hehir-Kwa"

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Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Authors:
Ida E Sønderby Ómar Gústafsson Nhat Trung Doan Derrek P Hibar Sandra Martin-Brevet Abdel Abdellaoui David Ames Katrin Amunts Michael Andersson Nicola J Armstrong Manon Bernard Nicholas Blackburn John Blangero Dorret I Boomsma Janita Bralten Hans-Richard Brattbak Henry Brodaty Rachel M Brouwer Robin Bülow Vince Calhoun Svenja Caspers Gianpiero Cavalleri Chi-Hua Chen Sven Cichon Simone Ciufolini Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Anders M Dale Shareefa Dalvie Paola Dazzan Eco J C de Geus Greig I de Zubicaray Sonja M C de Zwarte Norman Delanty Anouk den Braber Sylvane Desrivières Gary Donohoe Bogdan Draganski Stefan Ehrlich Thomas Espeseth Simon E Fisher Barbara Franke Vincent Frouin Masaki Fukunaga Thomas Gareau David C Glahn Hans Grabe Nynke A Groenewold Jan Haavik Asta Håberg Ryota Hashimoto Jayne Y Hehir-Kwa Andreas Heinz Manon H J Hillegers Per Hoffmann Laurena Holleran Jouke-Jan Hottenga Hilleke E Hulshoff Masashi Ikeda Neda Jahanshad Terry Jernigan Christiane Jockwitz Stefan Johansson Gudrun A Jonsdottir Erik G Jönsson Rene Kahn Tobias Kaufmann Sinead Kelly Masataka Kikuchi Emma E M Knowles Knut K Kolskår John B Kwok Stephanie Le Hellard Costin Leu Jingyu Liu Astri J Lundervold Arvid Lundervold Nicholas G Martin Karen Mather Samuel R Mathias Mark McCormack Katie L McMahon Allan McRae Yuri Milaneschi Clara Moreau Derek Morris David Mothersill Thomas W Mühleisen Robin Murray Jan E Nordvik Lars Nyberg Loes M Olde Loohuis Roel Ophoff Tomas Paus Zdenka Pausova Brenda Penninx Juan M Peralta Bruce Pike Carlos Prieto Sara Pudas Erin Quinlan Daniel S Quintana Céline S Reinbold Tiago Reis Marques Alexandre Reymond Genevieve Richard Borja Rodriguez-Herreros Roberto Roiz-Santiañez Jarek Rokicki James Rucker Perminder Sachdev Anne-Marthe Sanders Sigrid B Sando Lianne Schmaal Peter R Schofield Andrew J Schork Gunter Schumann Jean Shin Elena Shumskaya Sanjay Sisodiya Vidar M Steen Dan J Stein Stacy Steinberg Lachlan Strike Alexander Teumer Anbu Thalamuthu Diana Tordesillas-Gutierrez Jessica Turner Torill Ueland Anne Uhlmann Magnus O Ulfarsson Dennis van 't Ent Dennis van der Meer Neeltje E M van Haren Anja Vaskinn Evangelos Vassos G Bragi Walters Yunpeng Wang Wei Wen Christopher D Whelan Katharina Wittfeld Margie Wright Hidenaga Yamamori Tetyana Zayats Ingrid Agartz Lars T Westlye Sébastien Jacquemont Srdjan Djurovic Hreinn Stefánsson Kári Stefánsson Paul Thompson Ole A Andreassen

Mol Psychiatry 2019 Jan 31. Epub 2019 Jan 31.

NORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41380-019-0358-8DOI Listing
January 2019

The clinical implementation of copy number detection in the age of next-generation sequencing.

Expert Rev Mol Diagn 2018 10 27;18(10):907-915. Epub 2018 Sep 27.

a Princess Máxima Center for Pediatric Oncology , Utrecht , Netherlands.

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https://www.tandfonline.com/doi/full/10.1080/14737159.2018.1
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http://dx.doi.org/10.1080/14737159.2018.1523723DOI Listing
October 2018

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Authors:
Ida E Sønderby Ómar Gústafsson Nhat Trung Doan Derrek P Hibar Sandra Martin-Brevet Abdel Abdellaoui David Ames Katrin Amunts Michael Andersson Nicola J Armstrong Manon Bernard Nicholas Blackburn John Blangero Dorret I Boomsma Janita Bralten Hans-Richard Brattbak Henry Brodaty Rachel M Brouwer Robin Bülow Vince Calhoun Svenja Caspers Gianpiero Cavalleri Chi-Hua Chen Sven Cichon Simone Ciufolini Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Anders M Dale Shareefa Dalvie Paola Dazzan Eco J C de Geus Greig I de Zubicaray Sonja M C de Zwarte Norman Delanty Anouk den Braber Sylvane Desrivières Gary Donohoe Bogdan Draganski Stefan Ehrlich Thomas Espeseth Simon E Fisher Barbara Franke Vincent Frouin Masaki Fukunaga Thomas Gareau David C Glahn Hans Grabe Nynke A Groenewold Jan Haavik Asta Håberg Ryota Hashimoto Jayne Y Hehir-Kwa Andreas Heinz Manon H J Hillegers Per Hoffmann Laurena Holleran Jouke-Jan Hottenga Hilleke E Hulshoff Masashi Ikeda Neda Jahanshad Terry Jernigan Christiane Jockwitz Stefan Johansson Gudrun A Jonsdottir Erik G Jönsson Rene Kahn Tobias Kaufmann Sinead Kelly Masataka Kikuchi Emma E M Knowles Knut K Kolskår John B Kwok Stephanie Le Hellard Costin Leu Jingyu Liu Astri J Lundervold Arvid Lundervold Nicholas G Martin Karen Mather Samuel R Mathias Mark McCormack Katie L McMahon Allan McRae Yuri Milaneschi Clara Moreau Derek Morris David Mothersill Thomas W Mühleisen Robin Murray Jan E Nordvik Lars Nyberg Loes M Olde Loohuis Roel Ophoff Tomas Paus Zdenka Pausova Brenda Penninx Juan M Peralta Bruce Pike Carlos Prieto Sara Pudas Erin Quinlan Daniel S Quintana Céline S Reinbold Tiago Reis Marques Alexandre Reymond Genevieve Richard Borja Rodriguez-Herreros Roberto Roiz-Santiañez Jarek Rokicki James Rucker Perminder Sachdev Anne-Marthe Sanders Sigrid B Sando Lianne Schmaal Peter R Schofield Andrew J Schork Gunter Schumann Jean Shin Elena Shumskaya Sanjay Sisodiya Vidar M Steen Dan J Stein Stacy Steinberg Lachlan Strike Alexander Teumer Anbu Thalamuthu Diana Tordesillas-Gutierrez Jessica Turner Torill Ueland Anne Uhlmann Magnus O Ulfarsson Dennis van 't Ent Dennis van der Meer Neeltje E M van Haren Anja Vaskinn Evangelos Vassos G Bragi Walters Yunpeng Wang Wei Wen Christopher D Whelan Katharina Wittfeld Margie Wright Hidenaga Yamamori Tetyana Zayats Ingrid Agartz Lars T Westlye Sébastien Jacquemont Srdjan Djurovic Hreinn Stefánsson Kári Stefánsson Paul Thompson Ole A Andreassen

Mol Psychiatry 2018 Oct 3. Epub 2018 Oct 3.

NORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

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http://www.nature.com/articles/s41380-018-0118-1
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http://dx.doi.org/10.1038/s41380-018-0118-1DOI Listing
October 2018

Exome sequencing and whole genome sequencing for the detection of copy number variation.

Expert Rev Mol Diagn 2015 18;15(8):1023-32. Epub 2015 Jun 18.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1586/14737159.2015.1053467DOI Listing
April 2016

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

Genom Data 2014 Dec;2:144-146

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.gdata.2014.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526866PMC
December 2014

Clinical interpretation of CNVs with cross-species phenotype data.

J Med Genet 2014 Nov 3;51(11):766-772. Epub 2014 Oct 3.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin,Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2014-102633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501634PMC
November 2014

Genome sequencing identifies major causes of severe intellectual disability.

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

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http://dx.doi.org/10.1038/nature13394DOI Listing
July 2014

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Eur J Hum Genet 2014 Feb 14;22(2):160-70. Epub 2013 Aug 14.

National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1038/ejhg.2013.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895644PMC
February 2014

Clinical significance of de novo and inherited copy-number variation.

Hum Mutat 2013 Dec 10;34(12):1679-87. Epub 2013 Oct 10.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22442DOI Listing
December 2013

Detection of clinically relevant copy number variants with whole-exome sequencing.

Hum Mutat 2013 Oct 30;34(10):1439-48. Epub 2013 Aug 30.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22387DOI Listing
October 2013

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Eur J Med Genet 2013 Sep 12;56(9):471-4. Epub 2013 Jul 12.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.010DOI Listing
September 2013

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

J Med Genet 2011 Nov 3;48(11):776-8. Epub 2011 Oct 3.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100147
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http://dx.doi.org/10.1136/jmedgenet-2011-100147DOI Listing
November 2011

Accurate distinction of pathogenic from benign CNVs in mental retardation.

PLoS Comput Biol 2010 Apr 22;6(4):e1000752. Epub 2010 Apr 22.

Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1371/journal.pcbi.1000752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858682PMC
April 2010

Forging links between human mental retardation-associated CNVs and mouse gene knockout models.

PLoS Genet 2009 Jun 26;5(6):e1000531. Epub 2009 Jun 26.

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

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https://dx.plos.org/10.1371/journal.pgen.1000531
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http://dx.doi.org/10.1371/journal.pgen.1000531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694283PMC
June 2009

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Hum Mutat 2009 Mar;30(3):283-92

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/humu.20883
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http://dx.doi.org/10.1002/humu.20883DOI Listing
March 2009