Wendy Chung

Wendy Chung

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Wendy Chung

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Response to Evans et al.

Genet Med 2019 Aug 19;21(8):1880-1881. Epub 2018 Dec 19.

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

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http://dx.doi.org/10.1038/s41436-018-0400-2DOI Listing
August 2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Cold Spring Harb Mol Case Stud 2019 Aug 6. Epub 2019 Aug 6.

NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY,10314, USA.

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http://dx.doi.org/10.1101/mcs.a003715DOI Listing
August 2019

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Authors:
Frank Qian Matti A Rookus Goska Leslie Harvey A Risch Mark H Greene Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Irene L Andrulis Norbert Arnold Banu K Arun Margreet G E M Ausems Jacopo Azzollini Daniel Barrowdale Julian Barwell Javier Benitez Katarzyna Białkowska Valérie Bonadona Julika Borde Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldés Maria A Caligo Ian Campbell Jonathan Carter Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Marie-Agnès Collonge-Rame Fergus J Couch Mary B Daly Capucine Delnatte Orland Diez Susan M Domchek Cecilia M Dorfling Jacqueline Eason Douglas F Easton Ros Eeles Christoph Engel D Gareth Evans Laurence Faivre Lidia Feliubadaló Lenka Foretova Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Andrea Gehrig Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Ute Hamann Jan Hauke John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Ramunas Janavicius Esther M John Beth Y Karlan Carolien M Kets Yael Laitman Conxi Lázaro Dominique Leroux Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubiński Alicja Łukomska Lesley McGuffog Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Emmanuelle Mouret-Fourme Katherine L Nathanson Bita Nehoray Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Kenneth Offit Edith Olah Kai-Ren Ong Jan C Oosterwijk Laura Ottini Michael T Parsons Paolo Peterlongo Georg Pfeiler Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Gad Rennert Mark Robson Gustavo C Rodriguez Ritu Salani Maren T Scheuner Rita K Schmutzler Payal D Shah Lucy E Side Jacques Simard Christian F Singer Doris Steinemann Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Mary Beth Terry Mads Thomassen Marc Tischkowitz Silvia Tognazzo Amanda E Toland Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Laurence Venat-Bouvet Jeroen Vierstraete Gabriel Wagner Lisa Walker Jeffrey N Weitzel Drakoulis Yannoukakos Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Georgia Chenevix-Trench Timothy R Rebbeck Dezheng Huo

Br J Cancer 2019 Jul 19;121(2):180-192. Epub 2019 Jun 19.

Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1038/s41416-019-0492-8DOI Listing
July 2019

Homozygous noncanonical splice variant in in two siblings with multiple congenital anomalies and global developmental delay.

Cold Spring Harb Mol Case Stud 2019 Jun 3;5(3). Epub 2019 Jun 3.

Department of Pediatrics, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a004101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549555PMC
June 2019

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

J Clin Endocrinol Metab 2019 Jun 5. Epub 2019 Jun 5.

Division of Pediatric Endocrinology, Diabetes and Metabolism, Columbia University Irving Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1210/jc.2019-00817DOI Listing
June 2019

Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family.

Ann Intern Med 2019 May 14. Epub 2019 May 14.

Columbia University, New York, New York (R.L., M.P.W., I.K., W.K.C.).

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http://dx.doi.org/10.7326/M18-2359DOI Listing
May 2019

United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications.

Pulm Circ 2019 Apr-Jun;9(2):2045894019851696

10 Division of Human Genetics, Cincinnati Children's Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/2045894019851696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540712PMC
May 2019

Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing.

Ann Intern Med 2019 May 21. Epub 2019 May 21.

Columbia University, New York, New York (B.L., W.K.C.).

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http://dx.doi.org/10.7326/M18-2357DOI Listing
May 2019

Increasing genomic literacy among adolescents.

Genet Med 2019 04 14;21(4):994-1000. Epub 2018 Sep 14.

Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral Genetics, Department of Psychiatry, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-018-0275-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417977PMC
April 2019

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Authors:
Frank Qian Shengfeng Wang Jonathan Mitchell Lesley McGuffog Daniel Barrowdale Goska Leslie Jan C Oosterwijk Wendy K Chung D Gareth Evans Christoph Engel Karin Kast Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Banu K Arun Margreet G E M Ausems Jacopo Azzollini Emmanuelle Barouk-Simonet Julian Barwell Muriel Belotti Javier Benitez Andreas Berger Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Kathleen B M Claes J Margriet Collée Fergus J Couch Isabelle Coupier Mary B Daly Rosemarie Davidson Orland Diez Susan M Domchek Alan Donaldson Cecilia M Dorfling Ros Eeles Lidia Feliubadaló Lenka Foretova Jeffrey Fowler Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Jacek Gronwald Eric Hahnen Ute Hamann Alex Henderson Carolyn B Hendricks John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Ángel Izquierdo Anna Jakubowska Katarzyna Kaczmarek Eunyoung Kang Beth Y Karlan Carolien M Kets Sung-Won Kim Zisun Kim Ava Kwong Yael Laitman Christine Lasset Min Hyuk Lee Jong Won Lee Jihyoun Lee Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubinski Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Patrick J Morrison Emmanuelle Mouret-Fourme Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Finn C Nielsen Robert L Nussbaum Kenneth Offit Edith Olah Kai-Ren Ong Laura Ottini Sue K Park Paolo Peterlongo Georg Pfeiler Catherine M Phelan Bruce Poppe Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Mark Robson Gustavo C Rodriguez Rita K Schmutzler Christina G Hutten Selkirk Payal D Shah Jacques Simard Christian F Singer Johanna Sokolowska Dominique Stoppa-Lyonnet Christian Sutter Yen Yen Tan R Manuel Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Marc Tischkowitz Amanda E Toland Katherine M Tucker Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Drakoulis Yannoukakos Mark H Greene Matti A Rookus Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Timothy R Rebbeck Dezheng Huo

J Natl Cancer Inst 2019 Apr;111(4):350-364

Department of Medicine, The University of Chicago, Chicago, IL.

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https://academic.oup.com/jnci/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnci/djy132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449171PMC
April 2019

10-year performance of four models of breast cancer risk: a validation study.

Lancet Oncol 2019 Apr 21;20(4):504-517. Epub 2019 Feb 21.

Centre for Epidemiology and Biostatistics, University of Melbourne, Parkville, VIC, Australia; Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/S1470-2045(18)30902-1DOI Listing
April 2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.

Ann Intern Med 2019 Apr 30. Epub 2019 Apr 30.

Columbia University, New York, New York (M.G.A., D.S., K.K., W.K.C.).

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http://dx.doi.org/10.7326/M18-2356DOI Listing
April 2019

Precision Medicine in Internal Medicine.

Ann Intern Med 2019 Apr 30. Epub 2019 Apr 30.

College of Physicians and Surgeons, Columbia University, New York, New York (K.K., D.B.G., A.G.G., R.W., W.K.C.).

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http://dx.doi.org/10.7326/M18-0425DOI Listing
April 2019

Response to Wang et al.

Genet Med 2019 Mar 1. Epub 2019 Mar 1.

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

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http://dx.doi.org/10.1038/s41436-019-0469-2DOI Listing
March 2019

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.

Transl Psychiatry 2019 03 5;9(1):107. Epub 2019 Mar 5.

Division of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/s41398-019-0441-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400999PMC
March 2019

A newly identified mutation in the gene is associated with a milder form of Zellweger spectrum disorder.

Cold Spring Harb Mol Case Stud 2019 Feb 1;5(1). Epub 2019 Feb 1.

Division of Organelle Homeostasis, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
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http://dx.doi.org/10.1101/mcs.a003483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371744PMC
February 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Response to ten Broeke et al.

Genet Med 2019 01 24;21(1):258-259. Epub 2018 May 24.

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

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http://dx.doi.org/10.1038/s41436-018-0031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252164PMC
January 2019

Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.

Eur J Med Genet 2019 Jan 26;62(1):65-69. Epub 2018 May 26.

Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261782PMC
January 2019

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Hum Mutat 2018 Dec 24;39(12):1875-1884. Epub 2018 Sep 24.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.23627DOI Listing
December 2018

Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.

Tremor Other Hyperkinet Mov (N Y) 2018 29;8:560. Epub 2018 May 29.

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

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http://dx.doi.org/10.7916/D8XS7BGDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026281PMC
November 2018

Parental perceptions of prenatal whole exome sequencing (PPPWES) study.

Prenat Diagn 2018 10 5;38(11):801-811. Epub 2018 Aug 5.

Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1002/pd.5332DOI Listing
October 2018

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Am J Med Genet A 2018 09 8;176(9):1956-1963. Epub 2018 Aug 8.

Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.40355DOI Listing
September 2018

Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies.

J Genet Couns 2018 08 15;27(4):927-934. Epub 2017 Dec 15.

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

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http://dx.doi.org/10.1007/s10897-017-0186-4DOI Listing
August 2018

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

Biol Psychiatry 2018 08 27;84(4):253-264. 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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http://dx.doi.org/10.1016/j.biopsych.2018.02.1176DOI Listing
August 2018

Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.

Am J Med Genet A 2018 08 31;176(8):1773-1777. Epub 2018 Jul 31.

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

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http://dx.doi.org/10.1002/ajmg.a.38852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107394PMC
August 2018

Laboratory considerations for prenatal genetic testing.

Semin Perinatol 2018 08 26;42(5):307-313. Epub 2018 Jul 26.

Division of Reproductive Genetics, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, 622 W. 168th St, PH-16-66, New York, NY 10032, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01460005183005
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http://dx.doi.org/10.1053/j.semperi.2018.07.020DOI Listing
August 2018

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.

Am J Hum Genet 2018 07 28;103(1):58-73. Epub 2018 Jun 28.

Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035281PMC
July 2018

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Respir Med Case Rep 2018 19;25:91-95. Epub 2018 Jul 19.

Department of Medicine, Columbia University Medical Center, USA.

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http://dx.doi.org/10.1016/j.rmcr.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080219PMC
July 2018

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 05 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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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
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 05 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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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

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

Circ Genom Precis Med 2018 04;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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http://dx.doi.org/10.1161/CIRCGEN.117.001887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896781PMC
April 2018

Clinical and genetic characterization of AP4B1-associated SPG47.

Am J Med Genet A 2018 02 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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http://dx.doi.org/10.1002/ajmg.a.38561DOI Listing
February 2018

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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http://dx.doi.org/10.1101/mcs.a002154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701305PMC
November 2017