Davor Lessel

Davor Lessel

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Davor Lessel

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Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Authors:
Fredrick R Schumacher Ali Amin Al Olama Sonja I Berndt Sara Benlloch Mahbubl Ahmed Edward J Saunders Tokhir Dadaev Daniel Leongamornlert Ezequiel Anokian Clara Cieza-Borrella Chee Goh Mark N Brook Xin Sheng Laura Fachal Joe Dennis Jonathan Tyrer Kenneth Muir Artitaya Lophatananon Victoria L Stevens Susan M Gapstur Brian D Carter Catherine M Tangen Phyllis J Goodman Ian M Thompson Jyotsna Batra Suzanne Chambers Leire Moya Judith Clements Lisa Horvath Wayne Tilley Gail P Risbridger Henrik Gronberg Markus Aly Tobias Nordström Paul Pharoah Nora Pashayan Johanna Schleutker Teuvo L J Tammela Csilla Sipeky Anssi Auvinen Demetrius Albanes Stephanie Weinstein Alicja Wolk Niclas Håkansson Catharine M L West Alison M Dunning Neil Burnet Lorelei A Mucci Edward Giovannucci Gerald L Andriole Olivier Cussenot Géraldine Cancel-Tassin Stella Koutros Laura E Beane Freeman Karina Dalsgaard Sorensen Torben Falck Orntoft Michael Borre Lovise Maehle Eli Marie Grindedal David E Neal Jenny L Donovan Freddie C Hamdy Richard M Martin Ruth C Travis Tim J Key Robert J Hamilton Neil E Fleshner Antonio Finelli Sue Ann Ingles Mariana C Stern Barry S Rosenstein Sarah L Kerns Harry Ostrer Yong-Jie Lu Hong-Wei Zhang Ninghan Feng Xueying Mao Xin Guo Guomin Wang Zan Sun Graham G Giles Melissa C Southey Robert J MacInnis Liesel M FitzGerald Adam S Kibel Bettina F Drake Ana Vega Antonio Gómez-Caamaño Robert Szulkin Martin Eklund Manolis Kogevinas Javier Llorca Gemma Castaño-Vinyals Kathryn L Penney Meir Stampfer Jong Y Park Thomas A Sellers Hui-Yi Lin Janet L Stanford Cezary Cybulski Dominika Wokolorczyk Jan Lubinski Elaine A Ostrander Milan S Geybels Børge G Nordestgaard Sune F Nielsen Maren Weischer Rasmus Bisbjerg Martin Andreas Røder Peter Iversen Hermann Brenner Katarina Cuk Bernd Holleczek Christiane Maier Manuel Luedeke Thomas Schnoeller Jeri Kim Christopher J Logothetis Esther M John Manuel R Teixeira Paula Paulo Marta Cardoso Susan L Neuhausen Linda Steele Yuan Chun Ding Kim De Ruyck Gert De Meerleer Piet Ost Azad Razack Jasmine Lim Soo-Hwang Teo Daniel W Lin Lisa F Newcomb Davor Lessel Marija Gamulin Tomislav Kulis Radka Kaneva Nawaid Usmani Sandeep Singhal Chavdar Slavov Vanio Mitev Matthew Parliament Frank Claessens Steven Joniau Thomas Van den Broeck Samantha Larkin Paul A Townsend Claire Aukim-Hastie Manuela Gago-Dominguez Jose Esteban Castelao Maria Elena Martinez Monique J Roobol Guido Jenster Ron H N van Schaik Florence Menegaux Thérèse Truong Yves Akoli Koudou Jianfeng Xu Kay-Tee Khaw Lisa Cannon-Albright Hardev Pandha Agnieszka Michael Stephen N Thibodeau Shannon K McDonnell Daniel J Schaid Sara Lindstrom Constance Turman Jing Ma David J Hunter Elio Riboli Afshan Siddiq Federico Canzian Laurence N Kolonel Loic Le Marchand Robert N Hoover Mitchell J Machiela Zuxi Cui Peter Kraft Christopher I Amos David V Conti Douglas F Easton Fredrik Wiklund Stephen J Chanock Brian E Henderson Zsofia Kote-Jarai Christopher A Haiman Rosalind A Eeles

Nat Genet 2019 02;51(2):363

Institute of Cancer Research, London, UK.

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http://www.nature.com/articles/s41588-018-0330-6
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http://dx.doi.org/10.1038/s41588-018-0330-6DOI Listing
February 2019

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study.

Cancer Epidemiol Biomarkers Prev 2019 Jan 23;28(1):208-216. Epub 2018 Oct 23.

MRC Integrative Epidemiology Unit at the University of Bristol, Bristol, United Kingdom.

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http://cebp.aacrjournals.org/lookup/doi/10.1158/1055-9965.EP
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http://dx.doi.org/10.1158/1055-9965.EPI-18-0079DOI Listing
January 2019

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.

J Neurol Sci 2019 01 22;396:199-201. Epub 2018 Nov 22.

Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.11.024DOI Listing
January 2019

Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Nat Commun 2019 01 17;10(1):382. Epub 2019 Jan 17.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, CA, 90033, USA.

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http://dx.doi.org/10.1038/s41467-019-08293-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336778PMC
January 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Nat Commun 2018 11 5;9(1):4616. Epub 2018 Nov 5.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, CA, 90033, USA.

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http://www.nature.com/articles/s41467-018-06863-1
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http://dx.doi.org/10.1038/s41467-018-06863-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218483PMC
November 2018

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174322PMC
October 2018

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Authors:
Fredrick R Schumacher Ali Amin Al Olama Sonja I Berndt Sara Benlloch Mahbubl Ahmed Edward J Saunders Tokhir Dadaev Daniel Leongamornlert Ezequiel Anokian Clara Cieza-Borrella Chee Goh Mark N Brook Xin Sheng Laura Fachal Joe Dennis Jonathan Tyrer Kenneth Muir Artitaya Lophatananon Victoria L Stevens Susan M Gapstur Brian D Carter Catherine M Tangen Phyllis J Goodman Ian M Thompson Jyotsna Batra Suzanne Chambers Leire Moya Judith Clements Lisa Horvath Wayne Tilley Gail P Risbridger Henrik Gronberg Markus Aly Tobias Nordström Paul Pharoah Nora Pashayan Johanna Schleutker Teuvo L J Tammela Csilla Sipeky Anssi Auvinen Demetrius Albanes Stephanie Weinstein Alicja Wolk Niclas Håkansson Catharine M L West Alison M Dunning Neil Burnet Lorelei A Mucci Edward Giovannucci Gerald L Andriole Olivier Cussenot Géraldine Cancel-Tassin Stella Koutros Laura E Beane Freeman Karina Dalsgaard Sorensen Torben Falck Orntoft Michael Borre Lovise Maehle Eli Marie Grindedal David E Neal Jenny L Donovan Freddie C Hamdy Richard M Martin Ruth C Travis Tim J Key Robert J Hamilton Neil E Fleshner Antonio Finelli Sue Ann Ingles Mariana C Stern Barry S Rosenstein Sarah L Kerns Harry Ostrer Yong-Jie Lu Hong-Wei Zhang Ninghan Feng Xueying Mao Xin Guo Guomin Wang Zan Sun Graham G Giles Melissa C Southey Robert J MacInnis Liesel M FitzGerald Adam S Kibel Bettina F Drake Ana Vega Antonio Gómez-Caamaño Robert Szulkin Martin Eklund Manolis Kogevinas Javier Llorca Gemma Castaño-Vinyals Kathryn L Penney Meir Stampfer Jong Y Park Thomas A Sellers Hui-Yi Lin Janet L Stanford Cezary Cybulski Dominika Wokolorczyk Jan Lubinski Elaine A Ostrander Milan S Geybels Børge G Nordestgaard Sune F Nielsen Maren Weischer Rasmus Bisbjerg Martin Andreas Røder Peter Iversen Hermann Brenner Katarina Cuk Bernd Holleczek Christiane Maier Manuel Luedeke Thomas Schnoeller Jeri Kim Christopher J Logothetis Esther M John Manuel R Teixeira Paula Paulo Marta Cardoso Susan L Neuhausen Linda Steele Yuan Chun Ding Kim De Ruyck Gert De Meerleer Piet Ost Azad Razack Jasmine Lim Soo-Hwang Teo Daniel W Lin Lisa F Newcomb Davor Lessel Marija Gamulin Tomislav Kulis Radka Kaneva Nawaid Usmani Sandeep Singhal Chavdar Slavov Vanio Mitev Matthew Parliament Frank Claessens Steven Joniau Thomas Van den Broeck Samantha Larkin Paul A Townsend Claire Aukim-Hastie Manuela Gago-Dominguez Jose Esteban Castelao Maria Elena Martinez Monique J Roobol Guido Jenster Ron H N van Schaik Florence Menegaux Thérèse Truong Yves Akoli Koudou Jianfeng Xu Kay-Tee Khaw Lisa Cannon-Albright Hardev Pandha Agnieszka Michael Stephen N Thibodeau Shannon K McDonnell Daniel J Schaid Sara Lindstrom Constance Turman Jing Ma David J Hunter Elio Riboli Afshan Siddiq Federico Canzian Laurence N Kolonel Loic Le Marchand Robert N Hoover Mitchell J Machiela Zuxi Cui Peter Kraft Christopher I Amos David V Conti Douglas F Easton Fredrik Wiklund Stephen J Chanock Brian E Henderson Zsofia Kote-Jarai Christopher A Haiman Rosalind A Eeles

Nat Genet 2018 07 11;50(7):928-936. Epub 2018 Jun 11.

Institute of Cancer Research, London, UK.

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http://dx.doi.org/10.1038/s41588-018-0142-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6568012PMC
July 2018

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Authors:
Tokhir Dadaev Edward J Saunders Paul J Newcombe Ezequiel Anokian Daniel A Leongamornlert Mark N Brook Clara Cieza-Borrella Martina Mijuskovic Sarah Wakerell Ali Amin Al Olama Fredrick R Schumacher Sonja I Berndt Sara Benlloch Mahbubl Ahmed Chee Goh Xin Sheng Zhuo Zhang Kenneth Muir Koveela Govindasami Artitaya Lophatananon Victoria L Stevens Susan M Gapstur Brian D Carter Catherine M Tangen Phyllis Goodman Ian M Thompson Jyotsna Batra Suzanne Chambers Leire Moya Judith Clements Lisa Horvath Wayne Tilley Gail Risbridger Henrik Gronberg Markus Aly Tobias Nordström Paul Pharoah Nora Pashayan Johanna Schleutker Teuvo L J Tammela Csilla Sipeky Anssi Auvinen Demetrius Albanes Stephanie Weinstein Alicja Wolk Niclas Hakansson Catharine West Alison M Dunning Neil Burnet Lorelei Mucci Edward Giovannucci Gerald Andriole Olivier Cussenot Géraldine Cancel-Tassin Stella Koutros Laura E Beane Freeman Karina Dalsgaard Sorensen Torben Falck Orntoft Michael Borre Lovise Maehle Eli Marie Grindedal David E Neal Jenny L Donovan Freddie C Hamdy Richard M Martin Ruth C Travis Tim J Key Robert J Hamilton Neil E Fleshner Antonio Finelli Sue Ann Ingles Mariana C Stern Barry Rosenstein Sarah Kerns Harry Ostrer Yong-Jie Lu Hong-Wei Zhang Ninghan Feng Xueying Mao Xin Guo Guomin Wang Zan Sun Graham G Giles Melissa C Southey Robert J MacInnis Liesel M FitzGerald Adam S Kibel Bettina F Drake Ana Vega Antonio Gómez-Caamaño Laura Fachal Robert Szulkin Martin Eklund Manolis Kogevinas Javier Llorca Gemma Castaño-Vinyals Kathryn L Penney Meir Stampfer Jong Y Park Thomas A Sellers Hui-Yi Lin Janet L Stanford Cezary Cybulski Dominika Wokolorczyk Jan Lubinski Elaine A Ostrander Milan S Geybels Børge G Nordestgaard Sune F Nielsen Maren Weisher Rasmus Bisbjerg Martin Andreas Røder Peter Iversen Hermann Brenner Katarina Cuk Bernd Holleczek Christiane Maier Manuel Luedeke Thomas Schnoeller Jeri Kim Christopher J Logothetis Esther M John Manuel R Teixeira Paula Paulo Marta Cardoso Susan L Neuhausen Linda Steele Yuan Chun Ding Kim De Ruyck Gert De Meerleer Piet Ost Azad Razack Jasmine Lim Soo-Hwang Teo Daniel W Lin Lisa F Newcomb Davor Lessel Marija Gamulin Tomislav Kulis Radka Kaneva Nawaid Usmani Chavdar Slavov Vanio Mitev Matthew Parliament Sandeep Singhal Frank Claessens Steven Joniau Thomas Van den Broeck Samantha Larkin Paul A Townsend Claire Aukim-Hastie Manuela Gago-Dominguez Jose Esteban Castelao Maria Elena Martinez Monique J Roobol Guido Jenster Ron H N van Schaik Florence Menegaux Thérèse Truong Yves Akoli Koudou Jianfeng Xu Kay-Tee Khaw Lisa Cannon-Albright Hardev Pandha Agnieszka Michael Andrzej Kierzek Stephen N Thibodeau Shannon K McDonnell Daniel J Schaid Sara Lindstrom Constance Turman Jing Ma David J Hunter Elio Riboli Afshan Siddiq Federico Canzian Laurence N Kolonel Loic Le Marchand Robert N Hoover Mitchell J Machiela Peter Kraft Matthew Freedman Fredrik Wiklund Stephen Chanock Brian E Henderson Douglas F Easton Christopher A Haiman Rosalind A Eeles David V Conti Zsofia Kote-Jarai

Nat Commun 2018 06 11;9(1):2256. Epub 2018 Jun 11.

The Institute of Cancer Research, London, SW7 3RP, UK.

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http://dx.doi.org/10.1038/s41467-018-04109-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995836PMC
June 2018

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Eur J Med Genet 2017 Sep 4;60(9):494-498. Epub 2017 Jul 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
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http://dx.doi.org/10.1016/j.ejmg.2017.07.001DOI Listing
September 2017

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

Hum Genet 2017 03 8;136(3):339-346. Epub 2017 Feb 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-017-1762-2DOI Listing
March 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits.

Neurosurgery 2014 Sep;75(3):276-85; discussion 285

‡Department of Plastic Surgery, University Hospital Split, and University of Split School of Medicine, Split, Croatia; §University of Split School of Medicine, Split, Croatia; ¶Proteome Center Tübingen, Tübingen, Germany; ‖Institute of Human Genetics, University of Ulm, Ulm, Germany; #Department of Laboratory Diagnostics, University Hospital Split, and University of Split School of Medicine, Split, Croatia; **Department of Anatomy and Histology, University Hospital Split, and University of Split School of Medicine, Split, Croatia; ‡‡Department of Pathology, University Hospital Split, Split, Croatia; §§Unit for Family Practice, Split, Croatia.

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http://dx.doi.org/10.1227/NEU.0000000000000422DOI Listing
September 2014

Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity.

Nat Commun 2014 Apr 28;5:3695. Epub 2014 Apr 28.

Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich CH-8057, Switzerland.

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http://dx.doi.org/10.1038/ncomms4695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007632PMC
April 2014