Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas
PENNINGTON, Kathryn P, WALSH, Tom, AGNEW, Kathy J, PRITCHARD, Colin C, SCROGGINS, Sheena, GARCIA, Rochelle L, KING, Mary-Claire, SWISHER, Elizabeth M, HARRELL, Maria I, LEE, Ming K, PENNIL, Christopher C, RENDI, Mara H, THORNTON, Anne, NORQUIST, Barbara M, CASADEI, Silvia, NORD, Alexander S
Published in Clinical cancer research (01.02.2014)
Published in Clinical cancer research (01.02.2014)
Get full text
Journal Article
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
Get full text
Journal Article
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
Walsh, Tom, Casadei, Silvia, Lee, Ming K, Pennil, Christopher C, Nord, Alex S, Thornton, Anne M, Roeb, Wendy, Agnew, Kathy J, Stray, Sunday M, Wickramanayake, Anneka, Norquist, Barbara, Pennington, Kathryn P, Garcia, Rochelle L, King, Mary-Claire, Swisher, Elizabeth M
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.2011)
Get full text
Journal Article
Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study
Norquist, Barbara M, Brady, Mark F, Harrell, Maria I, Walsh, Tom, Lee, Ming K, Gulsuner, Suleyman, Bernards, Sarah S, Casadei, Silvia, Burger, Robert A, Tewari, Krishnansu S, Backes, Floor, Mannel, Robert S, Glaser, Gretchen, Bailey, Cheryl, Rubin, Stephen, Soper, John, Lankes, Heather A, Ramirez, Nilsa C, King, Mary Claire, Birrer, Michael J, Swisher, Elizabeth M
Published in Clinical cancer research (15.02.2018)
Published in Clinical cancer research (15.02.2018)
Get full text
Journal Article
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Gabai-Kapara, Efrat, Lahad, Amnon, Kaufman, Bella, Friedman, Eitan, Segev, Shlomo, Renbaum, Paul, Beeri, Rachel, Gal, Moran, Grinshpun-Cohen, Julia, Djemal, Karen, Mandell, Jessica B., Lee, Ming K., Beller, Uziel, Catane, Raphael, King, Mary-Claire, Levy-Lahad, Ephrat
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
Get full text
Journal Article
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy
Hassan, Raffit, Morrow, Betsy, Thomas, Anish, Walsh, Tom, Lee, Ming K., Gulsuner, Suleyman, Gadiraju, Meghana, Panou, Vasiliki, Gao, Shaojian, Mian, Idrees, Khan, Javed, Raffeld, Mark, Patel, Snehal, Xi, Liqiang, Wei, Jun S., Hesdorffer, Mary, Zhang, Jingli, Calzone, Kathleen, Desai, Arpita, Padiernos, Emerson, Alewine, Christine, Schrump, David S., Steinberg, Seth M., Kindler, Hedy L., King, Mary-Claire, Churpek, Jane E.
Published in Proceedings of the National Academy of Sciences - PNAS (30.04.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (30.04.2019)
Get full text
Journal Article
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Walsh, Tom, Lee, Ming K., Casadei, Silvia, Thornton, Anne M., Stray, Sunday M., Pennil, Christopher, Nord, Alex S., Mandell, Jessica B., Swisher, Elizabeth M., King, Mary-Claire
Published in Proceedings of the National Academy of Sciences - PNAS (13.07.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (13.07.2010)
Get full text
Journal Article
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy‐related leukemia
Churpek, Jane E., Marquez, Rafael, Neistadt, Barbara, Claussen, Kimberly, Lee, Ming K., Churpek, Matthew M., Huo, Dezheng, Weiner, Howard, Bannerjee, Mekhala, Godley, Lucy A., Le Beau, Michelle M., Pritchard, Colin C., Walsh, Tom, King, Mary‐Claire, Olopade, Olufunmilayo I., Larson, Richard A.
Published in Cancer (15.01.2016)
Published in Cancer (15.01.2016)
Get full text
Journal Article
Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
CASADEI, Silvia, NORQUIST, Barbara M, WALSH, Tom, STRAY, Sunday, MANDELL, Jessica B, LEE, Ming K, STAMATOYANNOPOULOS, John A, KING, Mary-Claire
Published in Cancer research (Chicago, Ill.) (15.03.2011)
Published in Cancer research (Chicago, Ill.) (15.03.2011)
Get full text
Journal Article
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
Pierce, Sarah B, Chisholm, Karen M, Lynch, Eric D, Lee, Ming K, Walsh, Tom, Opitz, John M, Li, Weiqing, Klevit, Rachel E, King, Mary-Claire
Published in Proceedings of the National Academy of Sciences - PNAS (19.04.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (19.04.2011)
Get full text
Journal Article
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Gulsuner, Hilal Unal, Gulsuner, Suleyman, Mercan, Fatma Nazli, Onat, Onur Emre, Walsh, Tom, Shahin, Hashem, Lee, Ming K., Dogu, Okan, Kansu, Tulay, Topaloglu, Haluk, Elibol, Bulent, Akbostanci, Cenk, King, Mary-Claire, Ozcelik, Tayfun, Tekinay, Ayse B.
Published in Proceedings of the National Academy of Sciences - PNAS (23.12.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (23.12.2014)
Get full text
Journal Article
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management
Baxter, Sarah K., Walsh, Tom, Casadei, Silvia, Eckert, Mary M., Allenspach, Eric J., Hagin, David, Segundo, Gesmar, Lee, Ming K., Gulsuner, Suleyman, Shirts, Brian H., Sullivan, Kathleen E., Keller, Michael D., Torgerson, Troy R., King, Mary-Claire
Published in Journal of allergy and clinical immunology (01.01.2022)
Published in Journal of allergy and clinical immunology (01.01.2022)
Get full text
Journal Article
Genomic analysis of inherited hearing loss in the Palestinian population
Rayyan, Amal Abu, Kamal, Lara, Casadei, Silvia, Brownstein, Zippora, Zahdeh, Fouad, Shahin, Hashem, Canavati, Christina, Dweik, Dima, Jaraysa, Tamara, Rabie, Grace, Carlson, Ryan J., Gulsuner, Suleyman, Lee, Ming K., Avraham, Karen B., Walsh, Tom, King, Mary-Claire, Kanaan, Moien N.
Published in Proceedings of the National Academy of Sciences - PNAS (18.08.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (18.08.2020)
Get full text
Journal Article
Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
Walsh, Tom, Shahin, Hashem, Elkan-Miller, Tal, Lee, Ming K., Thornton, Anne M., Roeb, Wendy, Abu Rayyan, Amal, Loulus, Suheir, Avraham, Karen B., King, Mary-Claire, Kanaan, Moien
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
Get full text
Journal Article
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Validation and Implementation of Targeted Capture and Sequencing for the Detection of Actionable Mutation, Copy Number Variation, and Gene Rearrangement in Clinical Cancer Specimens
Pritchard, Colin C, Salipante, Stephen J, Koehler, Karen, Smith, Christina, Scroggins, Sheena, Wood, Brent, Wu, David, Lee, Ming K, Dintzis, Suzanne, Adey, Andrew, Liu, Yajuan, Eaton, Keith D, Martins, Renato, Stricker, Kari, Margolin, Kim A, Hoffman, Noah, Churpek, Jane E, Tait, Jonathan F, King, Mary-Claire, Walsh, Tom
Published in The Journal of molecular diagnostics : JMD (2014)
Published in The Journal of molecular diagnostics : JMD (2014)
Get full text
Journal Article
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin
Seo, Aaron, Ben-Harosh, Miri, Sirin, Mehtap, Stein, Jerry, Dgany, Orly, Kaplelushnik, Joseph, Hoenig, Manfred, Pannicke, Ulrich, Lorenz, Myriam, Schwarz, Klaus, Stockklausner, Clemens, Walsh, Tom, Gulsuner, Suleyman, Lee, Ming K., Sendamarai, Anoop, Sanchez-Bonilla, Marilyn, King, Mary-Claire, Cario, Holger, Kulozik, Andreas E., Debatin, Klaus-Michael, Schulz, Ansgar, Tamary, Hannah, Shimamura, Akiko
Published in Blood (17.08.2017)
Published in Blood (17.08.2017)
Get full text
Journal Article
Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer
Walsh, Tom, Casadei, Silvia, Coats, Kathryn Hale, Swisher, Elizabeth, Stray, Sunday M, Higgins, Jake, Roach, Kevin C, Mandell, Jessica, Lee, Ming K, Ciernikova, Sona, Foretova, Lenka, Soucek, Pavel, King, Mary-Claire
Published in JAMA : the journal of the American Medical Association (22.03.2006)
Published in JAMA : the journal of the American Medical Association (22.03.2006)
Get full text
Journal Article
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity
Zhang, Michael Y, Keel, Siobán B, Walsh, Tom, Lee, Ming K, Gulsuner, Suleyman, Watts, Amanda C, Pritchard, Colin C, Salipante, Stephen J, Jeng, Michael R, Hofmann, Inga, Williams, David A, Fleming, Mark D, Abkowitz, Janis L, King, Mary-Claire, Shimamura, Akiko
Published in Haematologica (Roma) (01.01.2015)
Published in Haematologica (Roma) (01.01.2015)
Get full text
Journal Article
ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing
Pritchard, Colin C, Smith, Christina, Salipante, Stephen J, Lee, Ming K, Thornton, Anne M, Nord, Alex S, Gulden, Cassandra, Kupfer, Sonia S, Swisher, Elizabeth M, Bennett, Robin L, Novetsky, Akiva P, Jarvik, Gail P, Olopade, Olufunmilayo I, Goodfellow, Paul J, King, Mary-Claire, Tait, Jonathan F, Walsh, Tom
Published in The Journal of molecular diagnostics : JMD (01.07.2012)
Published in The Journal of molecular diagnostics : JMD (01.07.2012)
Get full text
Journal Article