Mary-Claire King

Mary-Claire King

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Mary-Claire King

Publications by authors named "Mary-Claire King"

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BRCA2 in Ovarian Development and Function. Reply.

N Engl J Med 2019 03;380(11):1087

Shaare Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1056/NEJMc1813800DOI Listing
March 2019

Inherited Breast Cancer in Nigerian Women.

J Clin Oncol 2018 10 21;36(28):2820-2825. Epub 2018 Aug 21.

Yonglan Zheng, Shengfeng Wang, Dezheng Huo, Toshio F. Yoshimatsu, Jing Zhang, Gabriela E.S. Felix, and Olufunmilayo I. Olopade, The University of Chicago, Chicago, IL; Tom Walsh, Suleyman Gulsuner, Silvia Casadei, Ming K. Lee, and Mary-Claire King, University of Washington, Seattle, WA; Temidayo O. Ogundiran, Adeyinka Ademola, Adeyinka G. Falusi, Abideen O. Oluwasola, Adewumi Adeoye, Abayomi Odetunde, Chinedum P. Babalola, Oladosu A. Ojengbede, Stella Odedina, Imaria Anetor, University of Ibadan; Clement A. Adebamowo, Centre for Bioethics and Research, Ibadan, Oyo, Nigeria, and University of Maryland School of Medicine, Baltimore, MD; and Gabriela E.S. Felix, Fundação Oswaldo Cruz and Universidade Federal da Bahia, Bahia, Brazil.

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http://dx.doi.org/10.1200/JCO.2018.78.3977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161833PMC
October 2018

Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy.

J Med Genet 2018 09 15;55(9):599-606. Epub 2018 May 15.

Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2018-105330DOI Listing
September 2018

Essential Role of BRCA2 in Ovarian Development and Function.

N Engl J Med 2018 09;379(11):1042-1049

From the Medical Genetics Institute, Shaare Zedek Medical Center (A.W.-S., P.R., O.L., S.Z., R.S., E.L.-L.), the Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical School (A.W.-S., E.L.-L., D.Z.), the Department of Developmental Biology and Cancer Research, IMRIC (Institute for Medical Research, Israel-Canada), Faculty of Medicine, Hebrew University of Jerusalem (A.D., T.S., R.K., O.G.), the Department of Genetics, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem (A.B.-M., M.G.), and the Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center (D.Z.), Jerusalem, and the Pediatric Endocrinology Clinic, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (M.R.) - all in Israel; and the Division of Medical Genetics, Department of Medicine and the Department of Genome Sciences, University of Washington, Seattle (S.G., T.W., M.-C.K.).

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http://www.nejm.org/doi/10.1056/NEJMoa1800024
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http://dx.doi.org/10.1056/NEJMoa1800024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230262PMC
September 2018

Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2-Reply.

JAMA Oncol 2018 07;4(7):1012-1013

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.

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http://dx.doi.org/10.1001/jamaoncol.2018.0616DOI Listing
July 2018

De novo mutation in with epigenetic effects on neurodevelopment.

Proc Natl Acad Sci U S A 2018 02 31;115(7):1558-1563. Epub 2018 Jan 31.

Department of Medicine, University of Washington, Seattle, WA 98195;

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http://dx.doi.org/10.1073/pnas.1721290115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816211PMC
February 2018

A Time to Sequence.

JAMA Pediatr 2017 12 4;171(12):e173435. Epub 2017 Dec 4.

Department of Medicine, University of Washington, Seattle.

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http://dx.doi.org/10.1001/jamapediatrics.2017.3435DOI Listing
December 2017

Gene Discovery for Complex Traits: Lessons from Africa.

Cell 2017 Oct;171(2):261-264

Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.09.037DOI Listing
October 2017

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Neurology 2017 Mar 10;88(11):1021-1028. Epub 2017 Feb 10.

From the Neuropediatric Unit (A.A.) and Medical Genetics (R.S., P.R., A.W.-S., S.Z., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., R.S., A.W.-S., E.L.-L.), Jerusalem, Israel; Department of Chemistry and Biochemistry (K.K., S.O., S.M.P.), University of California, Santa Barbara; Faculty of Medicine (T.M., Y.H., A.O.S.), Bar Ilan University, Safed, Israel; and Departments of Medicine and Genome Sciences (S.G., M.K.L., M.-C.K., T.W.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000003720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384838PMC
March 2017

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.

Biol Blood Marrow Transplant 2016 11 4;22(11):2100-2103. Epub 2016 Aug 4.

Section of Hematology/Oncology, Department of Medicine, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, Illinois; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592729PMC
November 2016

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

J Pediatr Hematol Oncol 2016 10;38(7):e260-2

*Hematology Unit, Schneider Medical Center of Israel †The Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva, Israel Departments of ‡Medicine, Division of Hematology §Medicine, Division of Medical Genetics #Medicine **Genome Sciences §§Pediatrics, University of Washington ††Clinical Research Division, Fred Hutchinson Cancer Research Center ‡‡Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA ∥Pediatric Onco-Hematology, Regina Margherita Children's Hospital ¶Pediatric Hematology, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1097/MPH.0000000000000587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033710PMC
October 2016

The Great Adventure of an American Human Geneticist.

Annu Rev Genomics Hum Genet 2016 08 21;17:1-15. Epub 2016 Apr 21.

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195; email:

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http://dx.doi.org/10.1146/annurev-genom-083115-022528DOI Listing
August 2016

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.

Pancreas 2016 07;45(6):858-62

From the *Department of Genome Sciences, University of Washington; †Clinical Research Division, Fred Hutchinson Cancer Research Center; ‡Division of Medical Genetics, University of Washington; §Pediatric Hematology/Oncology, Seattle Children's Hospital; ∥Department of Pediatrics, University of Washington; ¶Pediatric Gastroenterology and Hepatology, and #Department of Dermatology, Seattle Children's Hospital, Seattle, WA; and **Boston Children's Hospital, Dana Farber Cancer Institute, and Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1097/MPA.0000000000000529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841754PMC
July 2016

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Neurology 2016 05 29;86(21):2016-24. Epub 2016 Apr 29.

From the Neuropediatric Unit (A.A.), Medical Genetics (N.R., R.J., P.R., S. Zuckerman, H.F., S. Zeligson, R.S., E.L.-L.), MRI Unit (Y.S.), and Obstetrics and Gynecology Department (E.M., R.R., O.S.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., N.R., H.F., R.S., Y.K., R.R., E.L.-L.), Jerusalem; Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Israel; Hereditary Research Laboratory (L.K., M.K.), Bethlehem University, Palestinian Authority; and Departments of Medicine (Medical Genetics) and Genome Sciences (M.L., T.W., M.C.K., S.G.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000002704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887125PMC
May 2016

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Blood 2016 Feb 28;127(8):1017-23. Epub 2015 Dec 28.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia; School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA, Australia; School of Medicine, University of Adelaide, Adelaide, SA, Australia; School of Molecular and Biological Sciences, University of Adelaide, Adelaide, SA, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology.

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http://dx.doi.org/10.1182/blood-2015-10-676098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968341PMC
February 2016

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

J Clin Endocrinol Metab 2015 May 16;100(5):E808-14. Epub 2015 Mar 16.

Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2015-1150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422898PMC
May 2015

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Nat Genet 2015 Feb 12;47(2):180-5. Epub 2015 Jan 12.

1] Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA. [3] Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540357PMC
February 2015

Proposed shift in screening for breast cancer--reply.

JAMA 2015 Feb;313(5):525-6

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jama.2014.17442DOI Listing
February 2015

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Haematologica 2015 Jan 19;100(1):42-8. Epub 2014 Sep 19.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, WA Department of Pediatrics, University of Washington, Seattle, WA, USA

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http://dx.doi.org/10.3324/haematol.2014.113456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281311PMC
January 2015

Precision medicine meets public health: population screening for BRCA1 and BRCA2.

J Natl Cancer Inst 2015 Jan 30;107(1):420. Epub 2014 Dec 30.

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel (ELL); Faculty of Medicine, Hebrew University Medical School, Jerusalem, Israel (ELL, AL); Department of Family Medicine, Clalit Health Services, Jerusalem, Israel (AL); Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA (MCK).

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http://dx.doi.org/10.1093/jnci/dju420DOI Listing
January 2015

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Neurology 2014 Nov 29;83(22):2054-61. Epub 2014 Oct 29.

From the Department of Epidemiology, Research Institute for Radiation Biology and Medicine (H. Morino, Y.M., R.O., K.H.-K., M.K., H.K.), and Department of Clinical Neuroscience & Therapeutics (H. Maruyama), Hiroshima University, Japan; Departments of Medicine (Medical Genetics) and Genome Sciences (S.B.P., T.W., M.K.L., M.-C.K.) and Biochemistry (R.E.K.), University of Washington, Seattle; and Neuromuscular Center (M.N., A.M.), Texas Health Presbyterian Hospital, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000001036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248451PMC
November 2014

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

J Hum Genet 2014 Oct 7;59(10):581-3. Epub 2014 Aug 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2014.71DOI Listing
October 2014

Lasker Award winner Mary-Claire King.

Authors:
Mary-Claire King

Nat Med 2014 Oct;20(10):1124-5

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http://dx.doi.org/10.1038/nm.3696DOI Listing
October 2014

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

Proc Natl Acad Sci U S A 2014 Sep 5;111(39):14205-10. Epub 2014 Sep 5.

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 91031, Israel; Faculty of Medicine, Hebrew University Medical School, Jerusalem 91120, Israel;

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http://dx.doi.org/10.1073/pnas.1415979111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191771PMC
September 2014

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.

JAMA 2014 Sep;312(11):1091-2

Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel4Department of Family Medicine, Clalit Health Services, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jama.2014.12483DOI Listing
September 2014

Breast-cancer risk in families with mutations in PALB2.

N Engl J Med 2014 Aug;371(6):497-506

From the Departments of Public Health and Primary Care (A.C.A., D.B., A.L., D.F.E.) and Oncology (D.F.E.), Centre for Cancer Genetic Epidemiology, Department of Oncology (D.F.E.), and Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre (M.T.), University of Cambridge, and the Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital (J.R., D.S., M.T.), Cambridge, and the Oncogenetics Team, Institute of Cancer Research and Royal Marsden National Health Service Foundation Trust, London (C.T., S.S., N.R.) - all in the United Kingdom; the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle (S.C., M.-C.K.); the Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital (T.H., S.K., H.N.), and the Department of Clinical Genetics, Helsinki University Central Hospital (K.A.), Helsinki, the Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, and the Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Center NordLab, Oulu University Hospital (K.P., R.W.), and the Department of Clinical Genetics, University of Oulu and Oulu University Hospital (J.S.M.), Oulu, Biocenter Kuopio and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio (A.M.), and the Institute of Biomedical Technology-Cancer Genomics, University of Tampere, Tampere (A.K.) - all in Finland; the Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium (K.D.L., B.P., K.B.M.C.); the Molecular Diagnostics Laboratory, Institute of Nuclear and Radiologic Sciences and Technology, Energy and Safety, National Center for Scientific Research Demokritos, Athens (F.F., D.Y.); the Department of Genetics, Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa (E.T.), Samuel Lunenfeld Research

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http://dx.doi.org/10.1056/NEJMoa1400382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157599PMC
August 2014

Mutant ADA2 in vasculopathies.

N Engl J Med 2014 07;371(5):481

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http://dx.doi.org/10.1056/NEJMc1405506DOI Listing
July 2014

Research capacity. Enabling the genomic revolution in Africa.

Authors:
Charles Rotimi Akin Abayomi Alash'le Abimiku Victoria May Adabayeri Clement Adebamowo Ezekiel Adebiyi Adebowale D Ademola Adebowale Adeyemo Dwomoa Adu Dissou Affolabi Godfred Agongo Samuel Ajayi Sally Akarolo-Anthony Rufus Akinyemi Albert Akpalu Marianne Alberts Orlando Alonso Betancourt Ahmed Mansour Alzohairy Gobena Ameni Olukemi Amodu Gabriel Anabwani Kristian Andersen Fatiu Arogundade Oyedunni Arulogun Danny Asogun Rasheed Bakare Naby Balde Mary Lynn Baniecki Christine Beiswanger Alia Benkahla Lara Bethke Micheal Boehnke Vincent Boima James Brandful Andrew I Brooks Frank C Brosius Chester Brown Bruno Bucheton David T Burke Barrington G Burnett Stacy Carrington-Lawrence Nadia Carstens John Chisi Alan Christoffels Richard Cooper Heather Cordell Nigel Crowther Talishiea Croxton Jantina de Vries Leslie Derr Peter Donkor Seydou Doumbia Audrey Duncanson Ivy Ekem Ahmed El Sayed Mark E Engel John C K Enyaru Dean Everett Faisal M Fadlelmola Eyitayo Fakunle Kenneth H Fischbeck Anne Fischer Onikepe Folarin Junaid Gamieldien Robert F Garry Simani Gaseitsiwe Rasheed Gbadegesin Anita Ghansah Maria Giovanni Parham Goesbeck F Xavier Gomez-Olive Donald S Grant Ravnit Grewal Mark Guyer Neil A Hanchard Christian T Happi Scott Hazelhurst Branwen J Hennig Christiane Hertz- Fowler Winston Hide Friedhelm Hilderbrandt Christopher Hugo-Hamman Muntaser E Ibrahim Regina James Yasmina Jaufeerally-Fakim Carolyn Jenkins Ute Jentsch Pan-Pan Jiang Moses Joloba Victor Jongeneel Fourie Joubert Mukthar Kader Kathleen Kahn Pontiano Kaleebu Saidi H Kapiga Samar Kamal Kassim Ishmael Kasvosve Jonathan Kayondo Bernard Keavney Adeodata Kekitiinwa Sheik Humarr Khan Paul Kimmel Mary-Claire King Robert Kleta Mathurin Koffi Jeffrey Kopp Matthias Kretzler Judit Kumuthini Samuel Kyobe Catherine Kyobutungi Daniel T Lackland Karen A Lacourciere Guida Landouré Rita Lawlor Thomas Lehner Maia Lesosky Naomi Levitt Katherine Littler Zane Lombard Jeanne F Loring Sylvester Lyantagaye Annette Macleod Ebony B Madden Chengetai R Mahomva Julie Makani Manmak Mamven Marape Marape Graeme Mardon Patricia Marshall Darren P Martin Daniel Masiga Robin Mason Michael Mate-Kole Enock Matovu Mary Mayige Bongani M Mayosi Jean Claude Mbanya Sheryl A McCurdy Mark I McCarthy Helen McIlleron S O Mc'Ligeyo Corrine Merle Ana Olga Mocumbi Charles Mondo John V Moran Ayesha Motala Marva Moxey-Mims Wata Sununguko Mpoloka Chisomo L Msefula Thuli Mthiyane Nicola Mulder Gebregziab her Mulugeta Dieuodonne Mumba John Musuku Mo Nagdee Oyekanmi Nash Daouda Ndiaye Anh Quynh Nguyen Mark Nicol Oathokwa Nkomazana Shane Norris Betty Nsangi Alexander Nyarko Moffat Nyirenda Eileen Obe Reginald Obiakor Abraham Oduro Solomon F Ofori-Acquah Okechukwu Ogah Stephen Ogendo Kwaku Ohene-Frempong Akinlolu Ojo Timothy Olanrewaju John Oli Charlotte Osafo Odile Ouwe Missi Oukem-Boyer Bruce Ovbiagele Andrew Owen Mayowa Ojo Owolabi Lukman Owolabi Ellis Owusu-Dabo Guillaume Pare Rulan Parekh Hugh G Patterton Margaret B Penno Jane Peterson Rembert Pieper Jacob Plange-Rhule Martin Pollak Julia Puzak Rajkumar S Ramesar Michele Ramsay Rebekah Rasooly Shiksha Reddy Pardis C Sabeti Kwamena Sagoe Tunde Salako Oumar Samassékou Manjinder S Sandhu Osman Sankoh Fred Stephen Sarfo Marie Sarr Gasnat Shaboodien Issa Sidibe Gustave Simo Martin Simuunza Liam Smeeth Eugene Sobngwi Himla Soodyall Hermann Sorgho Oumou Sow Bah Sudha Srinivasan Dan J Stein Ezra S Susser Carmen Swanepoel Godfred Tangwa Andrew Tareila Ozlem Tastan Bishop Bamidele Tayo Nicki Tiffin Halidou Tinto Ekaete Tobin Stephen Meir Tollman Mahamadou Traoré Marsha J Treadwell Jennifer Troyer Masego Tsimako-Johnstone Vincent Tukei Ifeoma Ulasi Nzovu Ulenga Beverley van Rooyen Ablo Prudence Wachinou Salina P Waddy Alisha Wade Misaki Wayengera James Whitworth Louise Wideroff Cheryl A Winkler Sarah Winnicki Ambroise Wonkam Mengistu Yewondwos Tadase sen Nathan Yozwiak Heather Zar

Science 2014 Jun;344(6190):1346-8

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http://dx.doi.org/10.1126/science.1251546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4138491PMC
June 2014

Evidence is evidence: an interview with Mary-Claire King. Interviewed by Jane Gitschier.

Authors:
Mary-Claire King

PLoS Genet 2013 26;9(9):e1003828. Epub 2013 Sep 26.

Departments of Medicine and Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784510PMC
March 2014

"The race" to clone BRCA1.

Authors:
Mary-Claire King

Science 2014 Mar;343(6178):1462-5

Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1126/science.1251900DOI Listing
March 2014

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

Clin Cancer Res 2014 Feb 15;20(3):764-75. Epub 2013 Nov 15.

Authors' Affiliations: Division of Gynecologic Oncology; Division of Medical Genetics; Departments of Pathology and Laboratory Medicine, University of Washington Medical Center, Seattle, Washington.

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http://dx.doi.org/10.1158/1078-0432.CCR-13-2287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944197PMC
February 2014

2012 Presidential Address: The scientist as a citizen of the world.

Authors:
Mary-Claire King

Am J Hum Genet 2013 Mar;92(3):319-22

Medical Genetics Division, Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591847PMC
March 2013

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

Cancer 2013 Jan 18;119(2):332-8. Epub 2012 Jul 18.

Division of Gynecologic Oncology, University of Washington Medical Center, Seattle, Washington 98195-6460, USA.

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http://dx.doi.org/10.1002/cncr.27720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966566PMC
January 2013

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

Gynecol Oncol 2012 Dec 14;127(3):552-5. Epub 2012 Sep 14.

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ygyno.2012.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905744PMC
December 2012

The scientist as world citizen.

Authors:
Mary-Claire King

Science 2012 Nov;338(6107):581

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http://dx.doi.org/10.1126/science.1231607DOI Listing
November 2012

A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1.

PLoS One 2012 9;7(2):e30748. Epub 2012 Feb 9.

Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0030748PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276492PMC
July 2012

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Hum Mol Genet 2012 Jun 13;21(12):2738-44. Epub 2012 Mar 13.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1093/hmg/dds101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363333PMC
June 2012

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Proc Natl Acad Sci U S A 2011 Nov 31;108(45):18313-7. Epub 2011 Oct 31.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1073/pnas.1115888108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215002PMC
November 2011

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Fertil Steril 2011 Aug 17;96(2):e125-30. Epub 2011 Jun 17.

Department of Human Genetics and Institute for Human Genomics, University of Miami School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2011.05.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143235PMC
August 2011

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Breast Cancer Res Treat 2011 Jun 22;127(3):671-9. Epub 2010 Jul 22.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto 4200-072, Portugal.

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http://dx.doi.org/10.1007/s10549-010-1036-3DOI Listing
June 2011

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.

Mamm Genome 2011 Apr 17;22(3-4):170-7. Epub 2010 Dec 17.

Department of Medicine, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1007/s00335-010-9310-6DOI Listing
April 2011

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Proc Natl Acad Sci U S A 2011 Apr 4;108(16):6543-8. Epub 2011 Apr 4.

Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1073/pnas.1103471108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081023PMC
April 2011

Accurate and exact CNV identification from targeted high-throughput sequence data.

BMC Genomics 2011 Apr 12;12:184. Epub 2011 Apr 12.

Department of Genome Sciences, University of Washington, Seattle, 98195-7720, USA.

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http://dx.doi.org/10.1186/1471-2164-12-184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088570PMC
April 2011

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Cancer Res 2011 Mar 1;71(6):2222-9. Epub 2011 Feb 1.

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-10-3958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059378PMC
March 2011

Genome-sequencing anniversary. A healthy son.

Authors:
Mary-Claire King

Science 2011 Feb;331(6020):1026

University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1126/science.1204088DOI Listing
February 2011

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

J Med Genet 2010 Sep 14;47(9):643-5. Epub 2010 May 14.

Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian National Authority.

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http://dx.doi.org/10.1136/jmg.2009.075697DOI Listing
September 2010

Genomic analysis of mental illness: a changing landscape.

JAMA 2010 Jun;303(24):2523-4

Department of Psychiatry, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1001/jama.2010.869DOI Listing
June 2010

Genetic heterogeneity in human disease.

Cell 2010 Apr;141(2):210-7

Department of Psychiatry, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1016/j.cell.2010.03.032DOI Listing
April 2010

Medicine. The future of psychiatric research: genomes and neural circuits.

Science 2010 Mar;327(5973):1580-1

Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1126/science.1188654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3091000PMC
March 2010