Wendy K Chung

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Wendy K Chung

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100Publications

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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 May 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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May 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 May 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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May 2018

Response to ten Broeke et al.

Genet Med 2018 May 24. Epub 2018 May 24.

Department of Pediatrics and Medicine, Columbia University, New York, New York, USA.

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May 2018

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Circ Genom Precis Med 2018 Apr;11(4):e001887

Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O., A.B., F.D.); Department of Pediatric Cardiology, Children's Hospital Colorado, Denver (D.D.I.); Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN (E.D.A., R.H.); and Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, OH (W.C.N., M.W.P., K.A.L.).

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April 2018

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.

J Am Heart Assoc 2018 Mar 9;7(6). Epub 2018 Mar 9.

Department of Pediatrics, University of Utah, Salt Lake City, UT.

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March 2018

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Biol Psychiatry 2018 Mar 27. Epub 2018 Mar 27.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada. Electronic address:

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March 2018

Clinical and genetic characterization of AP4B1-associated SPG47.

Am J Med Genet A 2018 Feb 28;176(2):311-318. Epub 2017 Nov 28.

Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

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February 2018

The Congenital Heart Disease Genetic Network Study: Cohort description.

PLoS One 2018 19;13(1):e0191319. Epub 2018 Jan 19.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.

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February 2018

Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies.

J Genet Couns 2017 Dec 15. Epub 2017 Dec 15.

Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, New York, NY, USA.

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December 2017

Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.

J Pediatr Surg 2017 Nov 26;52(11):1747-1750. Epub 2017 Jan 26.

Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY 10032, USA.

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November 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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November 2017

The impact of hereditary cancer gene panels on clinical care and lessons learned.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;

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November 2017

Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.

J Genet Couns 2017 Oct 29;26(5):1116-1129. Epub 2017 Mar 29.

Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.

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October 2017

ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations.

Laryngoscope 2017 10 23;127(10):E336-E339. Epub 2017 May 23.

Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York, U.S.A.

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October 2017

PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics.

Circ Res 2017 Oct;121(10):1136-1139

From the Vanderbilt University, Nashville, TN (A.R.H., J.H.N.); Cleveland Clinic, OH (G.J.B., M.A.A., J.B., S.A.A.C., S.C.E., B.H., J.K.L., M.A.O., W.H.W.T.); Wayne State University/John D. Dingell VAMC, Detroil, MI (A.A.); Columbia University, New York, NY (E.B.R., W.K.C.); Mayo Clinic, Rochester, MN (B.A.B., R.P.F.); Pulmonary Hypertension Association, Silver Spring, MD (M.P.G.); New York University Medical Center (G.G.); Johns Hopkins Hospital, Baltimore, MD (P.M.H., S.C.M.); Tufts Medical Center, Boston, MA (N.S.H.); Weill Cornell Medicine, New York, NY (E.M.H.); Brigham and Women's Hospital, Boston, MA (B.A.M., D.M.S., A.B.W., J.A.L.); The University of Arizona, Tucson (F.P.R., J.X.-J.Y.); and National Heart, Lung and Blood Institute, Bethesda, MD (L.X.).

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October 2017

The Impact of Heterozygous Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.

J Am Heart Assoc 2017 Sep 9;6(9). Epub 2017 Sep 9.

Department of Pharmacology, College of Physicians and Surgeons, Columbia University, New York, NY

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September 2017

Pediatric Cardiomyopathies.

Circ Res 2017 Sep;121(7):855-873

From the Department of Pediatrics, Columbia University Medical Center, New York, NY (T.M.L., W.K.C., L.J.A.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H., J.M.L.); Department of Pediatrics, Stollery Children's Hospital, University of Alberta, Edmonton, Canada (P.K.); Department of Pediatrics, The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Cardiology, Boston Children's Hospital, MA (S.D.C.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, OH (J.L.J., E.M.M.); Department of Pediatrics, Children's Hospital of Philadelphia, PA (J.W.R.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.D.C.); Department of Pediatrics, Primary Children's Hospital, Salt Lake City, UT (A.K.L.); Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago, IL (P.T.T.); and Department of Pediatrics, Wayne State University School of Medicine and Children's Hospital of Michigan, Detroit (J.D.C., H.R., A.H., S.E.L.).

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September 2017

Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research.

J Genet Couns 2017 Aug 29;26(4):841-851. Epub 2016 Dec 29.

Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Ave., Russ Berrie Pavilion, 6th Fl, Rm 620, New York, NY, 10032, USA.

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August 2017

Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program.

J Genet Couns 2017 Aug 30;26(4):806-813. Epub 2016 Dec 30.

Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, 10032, USA.

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August 2017

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

Dis Model Mech 2017 08;10(8):955-970

Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA

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August 2017

23andMe Paves the Way for Direct-to-Consumer Genetic Health Risk Tests of Limited Clinical Utility.

Ann Intern Med 2017 Jul 30;167(2):125-126. Epub 2017 May 30.

From Columbia University, New York, New York.

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July 2017

Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.

Cardiol Young 2017 May 12;27(4):797-800. Epub 2017 Jan 12.

1New York Presbyterian - Morgan Stanley Children's Hospital of New York,Columbia University Medical Center,Division of Pediatric Cardiology,New York,New York,United States of America.

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May 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.

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May 2017

Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.

Pulm Circ 2017 Apr-Jun;7(2):372-383. Epub 2017 Mar 27.

1 Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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March 2017

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.

Cell Rep 2017 02;18(6):1484-1498

Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA. Electronic address:

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February 2017

Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group.

Circ Heart Fail 2017 Feb;10(2)

From the Department of Pediatrics, Miller School of Medicine, University of Miami, FL (P.R., S.E.L.); Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit (J.D.W., S.E.L.); Sanofi Genzyme Corporation, Boston, MA (G.F.C.); The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); The Heart Institute, Cincinnati Children's Hospital Medical Center, OH (J.L.J.); Department of Cardiology, Boston Children's Hospital, MA (L.A.S., M.L., S.D.C.); Department of Pediatrics, Vanderbilt University School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN (S.A.W.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.E.C.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Pediatrics, Columbia University Medical Center, New York, NY (W.K.C.); and University of North Carolina at Chapel Hill (C.C.).

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February 2017

The role of genetics in pulmonary arterial hypertension.

J Pathol 2017 Jan 29;241(2):273-280. Epub 2016 Nov 29.

Department of Pediatrics, Columbia University, New York, NY, USA.

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January 2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Authors:
Yosr Hamdi Penny Soucy Karoline B Kuchenbaeker Tomi Pastinen Arnaud Droit Audrey Lemaçon Julian Adlard Kristiina Aittomäki Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Jacopo Azzollini Anita Bane Laure Barjhoux Daniel Barrowdale Javier Benitez Pascaline Berthet Marinus J Blok Kristie Bobolis Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Maria A Caligo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Mary B Daly Francesca Damiola Rosemarie Davidson Miguel De la Hoya Kim De Leeneer Orland Diez Yuan Chun Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Diana Eccles Ros Eeles Zakaria Einbeigi Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalo Lenka Foretova Florentia Fostira William D Foulkes George Fountzilas Eitan Friedman Debra Frost Pamela Ganschow Patricia A Ganz Judy Garber Simon A Gayther Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Jacek Gronwald Eric Hahnen Ute Hamann Thomas V O Hansen Steven Hart John L Hays Frans B L Hogervorst Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Walter Just Katarzyna Kaczmarek Beth Y Karlan Carolien M Kets Judy Kirk Mieke Kriege Yael Laitman Maïté Laurent Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Annelie Liljegren Niklas Loman Jennifer T Loud Siranoush Manoukian Milena Mariani Sylvie Mazoyer Lesley McGuffog Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Jan C Oosterwijk Ana Osorio Laura Papi Sue Kyung Park Inge Sokilde Pedersen Bernard Peissel Pedro Perez Segura Paolo Peterlongo Catherine M Phelan Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Andrea Richardson Mark Robson Gustavo C Rodriguez Matti A Rookus Rita Katharina Schmutzler Nicolas Sevenet Payal D Shah Christian F Singer Thomas P Slavin Katie Snape Johanna Sokolowska Ida Marie Heeholm Sønderstrup Melissa Southey Amanda B Spurdle Zsofia Stadler Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Yen Tan Muy-Kheng Tea Manuel R Teixeira Alex Teulé Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Nadine Tung Ans M W van den Ouweland Rob B van der Luijt Klaartje van Engelen Elizabeth J van Rensburg Raymonda Varon-Mateeva Barbara Wappenschmidt Juul T Wijnen Timothy Rebbeck Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Silje Nord Douglas F Easton Antonis C Antoniou Jacques Simard

Breast Cancer Res Treat 2017 01 28;161(1):117-134. Epub 2016 Oct 28.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.

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January 2017

Celiac disease and Down syndrome mortality: a nationwide cohort study.

BMC Pediatr 2017 Jan 31;17(1):41. Epub 2017 Jan 31.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.

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January 2017

Childhood acromegaly due to X-linked acrogigantism: long term follow-up.

Pituitary 2016 Dec;19(6):560-564

Department of Medicine, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY, 10032, USA.

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December 2016

De novo -predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001172

Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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November 2016

Deep Genetic Connection Between Cancer and Developmental Disorders.

Hum Mutat 2016 10 23;37(10):1042-50. Epub 2016 Aug 23.

Department of Systems Biology, Columbia University Medical Center, New York, New York.

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October 2016

Hypertrophic cardiomyopathy: New approaches and a time to reappraise older approaches.

J Thorac Cardiovasc Surg 2016 Oct 4;152(4):983-8. Epub 2016 Jul 4.

Department of Medicine, Columbia University Medical Center, New York, NY.

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October 2016

Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

Epilepsia 2016 Oct 25;57(10):1643-1650. Epub 2016 Aug 25.

GH Sergievsky Center, Columbia University, New York, New York, U.S.A..

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October 2016

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Am J Hum Genet 2016 Sep 18;99(3):728-734. Epub 2016 Aug 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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September 2016

Rare variant phasing and haplotypic expression from RNA sequencing with phASER.

Nat Commun 2016 Sep 8;7:12817. Epub 2016 Sep 8.

New York Genome Center, New York, NY, 10013, USA.

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September 2016

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.

Hum Brain Mapp 2016 08 24;37(8):2833-48. Epub 2016 May 24.

Department of Radiology and Biomedical Imaging, University of California, San Francisco, 185 Berry Street, San Francisco, California, 94107.

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August 2016

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

J Clin Oncol 2016 Jun 25;34(18):2172-81. Epub 2016 Apr 25.

Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.

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June 2016

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Circ Arrhythm Electrophysiol 2016 Jun;9(6)

From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.).

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June 2016

The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History.

Epidemiology 2016 May;27(3):438-48

From the aCancer Prevention Institute of California, Fremont, CA; bDepartment of Health Research & Policy (Epidemiology), and Stanford Cancer Institute, Stanford School of Medicine, Stanford, CA; cDepartment of Epidemiology, Columbia University Mailman School of Public Health, New York, NY; dHerbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY; eDepartments of Medicine and Medical Ethics & Health Policy, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA; fLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada; gDivision of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada; hDepartments of Pediatrics and Medicine, Columbia University, New York, NY; iCollege of Social Work, University of Utah, Salt Lake City, UT; jPrincess Margaret Cancer Centre, Toronto, ON, Canada; kCenter for Clinical Cancer Genetics and Department of Medicine, University of Chicago, Chicago, IL; lThe Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA; mDepartment of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT; nDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA; and oDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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May 2016

Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research.

Circulation 2016 Apr;133(14):1410-8

From Department of Pediatrics and Communicable Diseases, University of Michigan C.S. Mott Children's Hospital, Ann Arbor (S.K.P., M.G.G.); Department of Surgery, Johns Hopkins All Children's Heart Institute, St. Petersburg, FL (J.P.J.); National Institute of Mental Health, National Institutes of Health, Bethesda, MD (G.K.F.); Children's Hospital Association, Overland Park, KS (D.B.); Department of Cardiology, Boston Children's Hospital, MA (E.D.B.); Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (K.M.B., G.P., V.L.P., J.R.K.); Department of Pediatrics, Emory University, Atlanta GA (R.C., R.V.); Department of Pediatrics, Children's Hospital of Orange County, Orange, CA (A.C.C.); Department of Pediatrics and Medicine, Columbia University, New York, NY (W.K.C.); Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA (T.R.-C.); Duke Clinical Research Institute, Duke University School of Medicine, Durham, NC (L.H.C.); Departments of Pediatrics (C.B.F.) and Surgery (W.J.G.), Children's Hospital of Philadelphia, PA; Division of Research, Kaiser Permanente Northern California, Oakland, CA (A.S.G.); ArborMetrix Inc, Ann Arbor, MI (P.H.); Department of Pediatrics, George Washington University School of Medicine, Children's National Medical Center, Washington, DC (G.R.M.); and Departments of Critical Care Medicine and Paediatrics, The Hospital for Sick Children and The University of Toronto School of Medicine, ON, Canada (S.M.S.).

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April 2016

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

Authors:
Fergus J Couch Karoline B Kuchenbaecker Kyriaki Michailidou Gustavo A Mendoza-Fandino Silje Nord Janna Lilyquist Curtis Olswold Emily Hallberg Simona Agata Habibul Ahsan Kristiina Aittomäki Christine Ambrosone Irene L Andrulis Hoda Anton-Culver Volker Arndt Banu K Arun Brita Arver Monica Barile Rosa B Barkardottir Daniel Barrowdale Lars Beckmann Matthias W Beckmann Javier Benitez Stephanie V Blank Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldes Maria A Caligo Federico Canzian Jane Carpenter Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Miguel de la Hoya Peter Devilee Orland Diez Yuan C Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Martine Dumont Alison M Dunning Diana M Eccles Hans Ehrencrona Arif B Ekici Heather Eliassen Steve Ellis Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Asta Försti Florentia Fostira William D Foulkes Tara Friebel Eitan Friedman Debra Frost Marike Gabrielson Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Mia M Gaudet Simon A Gayther Anne-Marie Gerdes Maya Ghoussaini Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Marc Gunter Lothar Haeberle Christopher A Haiman Ute Hamann Thomas V O Hansen Steven Hart Sue Healey Tuomas Heikkinen Brian E Henderson Josef Herzog Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Keith Humphreys David J Hunter Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Michael Jones Maria Kabisch Siddhartha Kar Beth Y Karlan Sofia Khan Kay-Tee Khaw Muhammad G Kibriya Julia A Knight Yon-Dschun Ko Irene Konstantopoulou Veli-Matti Kosma Vessela Kristensen Ava Kwong Yael Laitman Diether Lambrechts Conxi Lazaro Eunjung Lee Loic Le Marchand Jenny Lester Annika Lindblom Noralane Lindor Sara Lindstrom Jianjun Liu Jirong Long Jan Lubinski Phuong L Mai Enes Makalic Kathleen E Malone Arto Mannermaa Siranoush Manoukian Sara Margolin Frederik Marme John W M Martens Lesley McGuffog Alfons Meindl Austin Miller Roger L Milne Penelope Miron Marco Montagna Sylvie Mazoyer Anna M Mulligan Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Ana Osorio Sue K Park Petra H Peeters Bernard Peissel Paolo Peterlongo Julian Peto Catherine M Phelan Robert Pilarski Bruce Poppe Katri Pylkäs Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport Gad Rennert Andrea Richardson Mark Robson Isabelle Romieu Anja Rudolph Emiel J Rutgers Maria-Jose Sanchez Regina M Santella Elinor J Sawyer Daniel F Schmidt Marjanka K Schmidt Rita K Schmutzler Fredrick Schumacher Rodney Scott Leigha Senter Priyanka Sharma Jacques Simard Christian F Singer Olga M Sinilnikova Penny Soucy Melissa Southey Doris Steinemann Marie Stenmark-Askmalm Dominique Stoppa-Lyonnet Anthony Swerdlow Csilla I Szabo Rulla Tamimi William Tapper Manuel R Teixeira Soo-Hwang Teo Mary B Terry Mads Thomassen Deborah Thompson Laima Tihomirova Amanda E Toland Robert A E M Tollenaar Ian Tomlinson Thérèse Truong Helen Tsimiklis Alex Teulé Rosario Tumino Nadine Tung Clare Turnbull Giski Ursin Carolien H M van Deurzen Elizabeth J van Rensburg Raymonda Varon-Mateeva Zhaoming Wang Shan Wang-Gohrke Elisabete Weiderpass Jeffrey N Weitzel Alice Whittemore Hans Wildiers Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Song Yao M Pilar Zamora Wei Zheng Per Hall Peter Kraft Celine Vachon Susan Slager Georgia Chenevix-Trench Paul D P Pharoah Alvaro A N Monteiro Montserrat García-Closas Douglas F Easton Antonis C Antoniou

Nat Commun 2016 Apr 27;7:11375. Epub 2016 Apr 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

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April 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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March 2016

A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services.

Pediatrics 2016 Feb 28;137(2):e20143874. Epub 2016 Jan 28.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan.

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February 2016

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Cold Spring Harb Mol Case Stud 2016 Jan;2(1):a000661

Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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January 2016

De novo mutations in PURA are associated with hypotonia and developmental delay.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356

Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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October 2015