Thomas P Slavin

Thomas P Slavin

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Thomas P Slavin

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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

The effects of genomic germline variant reclassification on clinical cancer care.

Oncotarget 2019 Jan 11;10(4):417-423. Epub 2019 Jan 11.

Department of Medical Oncology and Therapeutics Research, Division of Clinical Cancer Genomics, City of Hope, Duarte, CA, USA.

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http://www.oncotarget.com/fulltext/26501
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http://dx.doi.org/10.18632/oncotarget.26501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355179PMC
January 2019

Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.

J Clin Oncol 2018 Oct 19:JCO1800328. Epub 2018 Oct 19.

Thomas P. Slavin, Kar Wing Kevin Tsang, Susan L. Neuhausen, Stacy W. Gray, and Jeffrey N. Weitzel, City of Hope, Duarte; Kimberly C. Banks, Darya Chudova, Justin I. Odegaard, Rebecca J. Nagy, Christine E. Lee, and Richard B. Lanman, Guardant Health, Redwood City; Razelle Kurzrock, University of California, San Diego, Moores Cancer Center, San Diego, CA; Geoffrey R. Oxnard, Dana-Farber Cancer Institute; Aditya Bardia, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA; Massimo Cristofanilli, Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Angel A. Rodriguez, Houston Methodist Hospital; Funda Meric-Bernstam, The University of Texas MD Anderson Cancer Center, Houston, TX; Brian Leyland-Jones, Avera Cancer Institute, Sioux Falls, SD; Mike F. Janicek, Arizona Oncology Associates Gynecology Oncology, Scottsdale, AZ; Michael Lilly, Medical University of South Carolina, Charleston, SC; and Guru Sonpavde, The University of Alabama at Birmingham Comprehensive Cancer Center, Birmingham, AL.

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http://ascopubs.org/doi/10.1200/JCO.18.00328
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http://dx.doi.org/10.1200/JCO.18.00328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286162PMC
October 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

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

Authors:
Elena Vigorito Karoline B Kuchenbaecker Jonathan Beesley Julian Adlard Bjarni A Agnarsson Irene L Andrulis Banu K Arun Laure Barjhoux Muriel Belotti Javier Benitez Andreas Berger Anders Bojesen Bernardo Bonanni Carole Brewer Trinidad Caldes Maria A Caligo Ian Campbell Salina B Chan Kathleen B M Claes David E Cohn Jackie Cook Mary B Daly Francesca Damiola Rosemarie Davidson Antoine de Pauw Capucine Delnatte Orland Diez Susan M Domchek Martine Dumont Katarzyna Durda Bernd Dworniczak Douglas F Easton Diana Eccles Christina Edwinsdotter Ardnor Ros Eeles Bent Ejlertsen Steve Ellis D Gareth Evans Lidia Feliubadalo Florentia Fostira William D Foulkes Eitan Friedman Debra Frost Pragna Gaddam Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Sophie Giraud Andrew K Godwin David E Goldgar Christopher R Hake Thomas V O Hansen Sue Healey Shirley Hodgson Frans B L Hogervorst Claude Houdayer Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Lauren Jacobs Anna Jakubowska Ramunas Janavicius Katarzyna Jaworska-Bieniek Uffe Birk Jensen Esther M John Joseph Vijai Beth Y Karlan Karin Kast KConFab Investigators Sofia Khan Ava Kwong Yael Laitman Jenny Lester Fabienne Lesueur Annelie Liljegren Jan Lubinski Phuong L Mai Siranoush Manoukian Sylvie Mazoyer Alfons Meindl Arjen R Mensenkamp Marco Montagna Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Ana Osorio Sue Kyung Park Ylva Paulsson-Karlsson Inge Sokilde Pedersen Bernard Peissel Paolo Peterlongo Georg Pfeiler Catherine M Phelan Marion Piedmonte Bruce Poppe Miquel Angel Pujana Paolo Radice Gad Rennert Gustavo C Rodriguez Matti A Rookus Eric A Ross Rita Katharina Schmutzler Jacques Simard Christian F Singer Thomas P Slavin Penny Soucy Melissa Southey Doris Steinemann Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Mary Beth Terry Mads Thomassen Maria Grazia Tibiletti Laima Tihomirova Silvia Tognazzo Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Athanassios Vratimos Jeffrey N Weitzel Lesley McGuffog Judy Kirk Amanda Ewart Toland Ute Hamann Noralane Lindor Susan J Ramus Mark H Greene Fergus J Couch Kenneth Offit Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou

PLoS One 2016 27;11(7):e0158801. Epub 2016 Jul 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158801PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963094PMC
July 2017

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

J Clin Oncol 2017 Jul 11;35(20):2329-2337. Epub 2017 Apr 11.

Goli Samimi, Charlisse F. Caga-anan, Michael Dean, Leah E. Mechanic, Lori M. Minasian, and Mark E. Sherman, National Cancer Institute; Lawrence C. Brody, National Human Genome Research Institute, Bethesda, MD; Marcus Q. Bernardini, Stephanie Lheureux, Patricia A. Shaw, Princess Margaret Cancer Centre, Toronto, Ontario; Janice S. Kwon, University of British Columbia; British Columbia Cancer Agency, Vancouver, British Columbia, Canada; Ian G. Campbell, Paul A. James, Masataka Takenaka, and David D. Bowtell, Peter MacCallum Cancer Centre; David D. Bowtell, University of Melbourne, Melbourne, Victoria; Georgia Chenevix-Trench, QIMR Berghofer Medical Research Institute, Brisbane, Queensland; Michael Friedlander, The Prince of Wales Hospital; Susan J. Ramus, University of New South Wales; Susan J. Ramus and David D. Bowtell, Garvan Institute of Medical Research, Sydney, New South Wales, Australia; Fergus J. Couch, Mayo Clinic, Rochester, MN; Joanne A. de Hullu and Marline G. Harmsen, Radboud University Medical Center, Nijmegen, the Netherlands; Susan M. Domchek and Ronny Drapkin, University of Pennsylvania, Philadelphia; Phuong L. Mai, Magee-Women's Hospital of the University of Pittsburgh Medical Center, Pittsburgh, PA; Heather Spencer Feigelson, Kaiser Permanente Institute for Health Research, Denver, CO; Mia M. Gaudet, American Cancer Society, Atlanta, GA; Karen Hurley and Mark E. Robson, Memorial Sloan Kettering Cancer Center; Mark E. Robson, Weill Cornell Medical College, New York, NY; Felicitas Lacbawan, Quest Diagnostics Nichols Institute, San Juan Capistrano; Thomas P. Slavin, City of Hope, Duarte, CA; Evan R. Myers, Duke University Medical Center, Durham, NC; Lisa F. Rezende, FORCE: Facing Our Risk of Cancer Empowered, Tampa; Mark E. Sherman, Mayo Clinic, Jacksonville, FL; and Elizabeth M. Swisher, University of Washington Medical Center, Seattle, WA.

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http://dx.doi.org/10.1200/JCO.2016.70.3439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501360PMC
July 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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http://dx.doi.org/10.1007/s10549-016-4018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

When Clinical Care Depends on the Answer: The Challenges of Assessing Germline Cancer Gene Variants.

J Clin Oncol 2016 12 24;34(34):4061-4063. Epub 2016 Oct 24.

Thomas P. Slavin, Kathleen R. Blazer, and Jeffrey N. Weitzel, City of Hope, Duarte, CA.

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http://dx.doi.org/10.1200/JCO.2016.69.7151DOI Listing
December 2016

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Am J Hum Genet 2016 May;98(5):801-817

Department of Medicine, Division of Translational Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863474PMC
May 2016

The perinatal presentation of cardiofaciocutaneous syndrome.

Am J Med Genet A 2014 Aug 9;164A(8):2036-42. Epub 2014 Apr 9.

Department of Pediatrics, University of Hawaii, Honolulu, Hawaii.

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http://dx.doi.org/10.1002/ajmg.a.36558DOI Listing
August 2014

Elevated blood pressure: Our family's fault? The genetics of essential hypertension.

World J Cardiol 2014 May;6(5):327-37

Aniket Natekar, Randi L Olds, Meghann W Lau, Kathleen Min, Karra Imoto, Thomas P Slavin, The John A. Burns School of Medicine, University of Hawaii, Honolulu, HI 96813, United States.

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http://dx.doi.org/10.4330/wjc.v6.i5.327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062117PMC
May 2014

Genetic associations of relaxin: preterm birth and premature rupture of fetal membranes.

Am J Obstet Gynecol 2013 Sep 10;209(3):258.e1-8. Epub 2013 May 10.

Department of Obstetrics, Gynecology, and Women's Health, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.

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http://dx.doi.org/10.1016/j.ajog.2013.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758420PMC
September 2013

Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.

Case Rep Genet 2013 1;2013:149085. Epub 2013 Jul 1.

University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USA ; Hawaii Community Genetics, Ala Moana Building, 1441 Kapiolani Blvd, Suite 1800, Honolulu, HI 96814, USA.

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http://dx.doi.org/10.1155/2013/149085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3713326PMC
August 2013

Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.

Am J Med Genet A 2012 Nov 14;158A(11):2959-62. Epub 2012 Sep 14.

Hawai'i Department of Health, Honolulu, Hawai'i, USA.

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http://dx.doi.org/10.1002/ajmg.a.35629DOI Listing
November 2012

Germline mosaicism in Cornelia de Lange syndrome.

Am J Med Genet A 2012 Jun 11;158A(6):1481-5. Epub 2012 May 11.

Department of Genetics and Center for Human Genetics, University Hospitals of Cleveland, Case Medical Center, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.35381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356507PMC
June 2012

Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

Hum Genet 2011 Dec 28;130(6):725-33. Epub 2011 May 28.

Department of Genetics, Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University, 10524 Euclid Avenue, Cleveland, OH, USA.

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http://dx.doi.org/10.1007/s00439-011-1009-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576836PMC
December 2011

Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.

Am J Med Genet A 2011 Mar 22;155A(3):618-21. Epub 2011 Feb 22.

Department of Genetics, Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University, Ohio, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33816
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http://dx.doi.org/10.1002/ajmg.a.33816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467729PMC
March 2011

McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.

J Clin Ultrasound 2010 Mar-Apr;38(3):151-5

Department of Genetics, Case Medical Center, University Hospitals, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/jcu.20663DOI Listing
June 2010

Developmental defects and childhood cancer.

Curr Opin Pediatr 2009 Dec;21(6):717-23

Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, Ohio 44116, USA.

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http://dx.doi.org/10.1097/MOP.0b013e328332c612DOI Listing
December 2009