Sharon A Savage

Scopus Author ID ResearcherID Scopus Author ID Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 78

Top Venues

Blood

Nature communications

Human mutation

PloS one

National Cancer Institute

This page only lists publications with an associated author ORCID identifier.

Affiliation History

National Cancer Institute

United States

Branch Chief :: Clinical Genetics Branch, DCEG

Publications

Yoshiko Nakano, Roland P Kuiper, Kim E Nichols, Christopher C Porter, Harry Lesmana, Julia Meade, Christian Peter Kratz, Lucy A Godley, Luke D Maese, Maria Isabel Waddington Achatz, Payal P Khincha, Sharon A Savage, Andrea Schwarz Doria, Mary-Louise C Greer, Vivian Y Chang, Lisa L Wang, Sharon E Plon, Michael F Walsh
Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Emily Pearce, Hannah Raj, Ngozika Emezienna, Melissa B Gilkey, Allison J Lazard, Kurt M Ribisl, Sharon A Savage, Paul K J Han
The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis. JMIR infodemiology 4 (2024)
Anirban Das, Suzanne P MacFarland, Julia Meade, Jordan R Hansford, Kami Wolfe Schneider, Roland P Kuiper, Marjolijn C J Jongmans, Harry Lesmana, Kris Ann P Schultz, Kim E Nichols, Carol Durno, Kristin Zelley, Christopher C Porter, Lisa J States, Shay Ben-Shachar, Sharon A Savage, Jennifer M Kalish, Michael F Walsh, Hamish S Scott, Sharon E Plon, Uri Tabori
Clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes in children and young adults. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Payal P Khincha, Sharon A Savage
When the somatic genome informs the germline: the example of TP53. Journal of the National Cancer Institute 116 (8) (2024)
Payal P Khincha, Sharon A Savage
When the somatic genome informs the germline: the example of TP53. Journal of the National Cancer Institute 116 (8) (2024)
Suzanne P MacFarland, Kerri Becktell, Kami Wolfe Schneider, Roland P Kuiper, Harry Lesmana, Julia Meade, Kim E Nichols, Christopher C Porter, Sharon A Savage, Kris Ann P Schultz, Hamish S Scott, Lisa J States, Uri Tabori, Chieko Tamura, Gail E Tomlinson, Kristin Zelley, Carol Durno, Andrew J Bauer, Sharon E Plon
Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: An update from the AACR Childhood Cancer Predisposition Working Group. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Santiago E Sanchez, Yuchao Gu, Yan Wang, Anudeep Golla, Annika Martin, William Shomali, Dirk Hockemeyer, Sharon A Savage, Steven E Artandi
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease. Nature communications 15 (1) (2024)
Joshua D Strauss, Derek W Brown, Weiyin Zhou, Casey L Dagnall, Jian-Min Yuan, Annie P Im, Sharon A Savage, Youjin Wang, Maryam Rafati, Stephen R Spellman, Shahinaz M Gadalla
Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia. British journal of haematology (2024)
Payal P Khincha, Sharon A Savage
When the somatic genome informs the germline: the example of TP53. Journal of the National Cancer Institute (2024)
Santiago E Sanchez, Yuchao Gu, Yan Wang, Anudeep Golla, Annika Martin, William Shomali, Dirk Hockemeyer, Sharon A Savage, Steven E Artandi
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease. Nature communications 15 (1) (2024)
Emily Pearce, Hannah Raj, Ngozika Emezienna, Melissa B Gilkey, Allison J Lazard, Kurt M Ribisl, Sharon A Savage, Paul K J Han
The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis. JMIR infodemiology 4 (2024)
Luke D Maese, Marcin W Wlodarski, Sun Young Kim, Alison A Bertuch, Gaëlle Bougeard, Vivian Y Chang, Lucy A Godley, Payal P Khincha, Roland P Kuiper, Harry Lesmana, Rose B McGee, Lisa J McReynolds, Julia Meade, Sharon E Plon, Sharon A Savage, Sarah R Scollon, Hamish S Scott, Michael F Walsh, Kim E Nichols, Christopher C Porter
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Santiago E Sanchez, Yuchao Gu, Yan Wang, Anudeep Golla, Annika Martin, William Shomali, Dirk Hockemeyer, Sharon A Savage, Steven E Artandi
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease. Nature communications 15 (1) (2024)
Emily Pearce, Hannah Raj, Ngozika Emezienna, Melissa B Gilkey, Allison J Lazard, Kurt M Ribisl, Sharon A Savage, Paul K J Han
The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis. JMIR infodemiology 4 (2024)
Anirban Das, Suzanne P MacFarland, Julia Meade, Jordan R Hansford, Kami Wolfe Schneider, Roland P Kuiper, Marjolijn C J Jongmans, Harry Lesmana, Kris Ann P Schultz, Kim E Nichols, Carol Durno, Kristin Zelley, Christopher C Porter, Lisa J States, Shay Ben-Shachar, Sharon A Savage, Jennifer M Kalish, Michael F Walsh, Hamish S Scott, Sharon E Plon, Uri Tabori
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults. Clinical cancer research : an official journal of the American Association for Cancer Research 30 (16) (2024)
Santiago E Sanchez, Yuchao Gu, Yan Wang, Anudeep Golla, Annika Martin, William Shomali, Dirk Hockemeyer, Sharon A Savage, Steven E Artandi
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease. Nature communications 15 (1) (2024)
Payal P Khincha, Sharon A Savage
When the somatic genome informs the germline: the example of TP53. Journal of the National Cancer Institute 116 (8) (2024)
Emily Pearce, Hannah Raj, Ngozika Emezienna, Melissa B Gilkey, Allison J Lazard, Kurt M Ribisl, Sharon A Savage, Paul K J Han
The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis. JMIR infodemiology 4 (2024)
Ashley S Thompson, Marena R Niewisch, Neelam Giri, Lisa J McReynolds, Sharon A Savage
Germline RTEL1 Variants in Telomere Biology Disorders. American journal of medical genetics. Part A (2024)
Emily Pearce, Hannah Raj, Ngozika Emezienna, Melissa B Gilkey, Allison J Lazard, Kurt M Ribisl, Sharon A Savage, Paul K J Han
The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis. JMIR infodemiology 4 (2024)
Sharon A Savage
Telomere length and cancer risk: finding Goldilocks. Biogerontology 25 (2) (2023)
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Inflated expectations: Rare-variant association analysis using public controls. PloS one 18 (1) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Inflated expectations: Rare-variant association analysis using public controls. PloS one 18 (1) (2023)
Sharon A Savage
Telomere length and cancer risk: finding Goldilocks. Biogerontology 25 (2) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Sharon A Savage
Telomere length and cancer risk: finding Goldilocks. Biogerontology (2023)
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Inflated expectations: Rare-variant association analysis using public controls. PloS one 18 (1) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Inflated expectations: Rare-variant association analysis using public controls. PloS one 18 (1) (2023)
Ixtaccihuatl H Obregón, Kelvin C de Andrade, Renee C Bremer, Payal P Khincha, Sharon A Savage
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome. Familial cancer (2023)
Chiara Pederiva, Davide M Trevisan, Dimitra Peirasmaki, Shan Chen, Sharon A Savage, Ola Larsson, Jernej Ule, Laura Baranello, Federico Agostini, Marianne Farnebo
Control of protein synthesis through mRNA pseudouridylation by dyskerin. Science advances 9 (30) (2023)
Hannah A Raj, Tsung-Po Lai, Marena R Niewisch, Neelam Giri, Youjin Wang, Stephen R Spellman, Abraham Aviv, Shahinaz M Gadalla, Sharon A Savage
The distribution and accumulation of the shortest telomeres in telomere biology disorders. British journal of haematology (2023)
Fernanda Gutierrez-Rodrigues, Eric Munger, Xiaoyang Ma, Emma M Groarke, Youbao Tang, Bhavisha A Patel, Luis Fernando B Catto, Diego Villa Clé, Marena R Niewisch, Raquel Ma Paiva, Flavia Donaires, André Luiz Pinto, Gustavo Borges, Barbara A Santana, Lisa J McReynolds, Neelam Giri, Burak Altintas, Xing Fan, Ruba N Shalhoub, Christopher Mark Siwy, Carrie Diamond, Diego Quinones Raffo, Kathleen Marie Craft, Sachiko Kajigaya, Ronald M Summers, Paul P Liu, Lea Cunningham, Dennis D Hickstein, Cynthia E Dunbar, Ricardo Pasquini, Michel Michels de Oliveira, Elvira Deolinda Rodrigues Pereira Velloso, Blanche P Alter, Sharon A Savage, Carmem Maria Sales Bonfim, Colin O Wu, Rodrigo do Tocantins Calado, Neal S Young
Differential diagnosis of bone marrow failure syndromes guided by machine learning. Blood (2022)
Fernanda Gutierrez-Rodrigues, Eric Munger, Xiaoyang Ma, Emma M Groarke, Youbao Tang, Bhavisha A Patel, Luis Fernando B Catto, Diego Villa Clé, Marena R Niewisch, Raquel Ma Paiva, Flavia Donaires, André Luiz Pinto, Gustavo Borges, Barbara A Santana, Lisa J McReynolds, Neelam Giri, Burak Altintas, Xing Fan, Ruba N Shalhoub, Christopher Mark Siwy, Carrie Diamond, Diego Quinones Raffo, Kathleen Marie Craft, Sachiko Kajigaya, Ronald M Summers, Paul P Liu, Lea Cunningham, Dennis D Hickstein, Cynthia E Dunbar, Ricardo Pasquini, Michel Michels de Oliveira, Elvira Deolinda Rodrigues Pereira Velloso, Blanche P Alter, Sharon A Savage, Carmem Maria Sales Bonfim, Colin O Wu, Rodrigo do Tocantins Calado, Neal S Young
Differential diagnosis of bone marrow failure syndromes guided by machine learning. Blood (2022)
Sharon A Savage, Kristine Jones, Kedest Teshome, Adriana Lori, Lisa J McReynolds, Marena R Niewisch
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17. Human mutation (2022)
Derek W Brown, Weiyin Zhou, Youjin Wang, Kristine Jones, Wen Luo, Casey L Dagnall, Kedest Teshome, Alyssa Klein, Tongwu Zhang, Shu-Hong Lin, Olivia W Lee, Sairah Khan, Jacqueline B Vo, Amy Hutchinson, Jia Liu, Jiahui Wang, Bin Zhu, Belynda D Hicks, Andrew St Martin, Stephen R Spellman, Tao Wang, H Joachim Deeg, Vikas K Gupta, Stephanie J Lee, Neal D Freedman, Meredith Yeager, Stephen J Chanock, Sharon A Savage, Wael Saber, Shahinaz M Gadalla, Mitchell J Machiela
Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis. Nature communications 13 (1) (2022)
Sharon A Savage
Who Should Have Multigene Germline Testing for Hereditary Cancer? Journal of clinical oncology : official journal of the American Society of Clinical Oncology 40 (35) (2022)
Kelvin César de Andrade, Elaine E Lee, Elise M Tookmanian, Chimene A Kesserwan, James J Manfredi, Jessica N Hatton, Jennifer K Loukissas, Jiri Zavadil, Lei Zhou, Magali Olivier, Megan N Frone, Owais Shahzada, William J R Longabaugh, Christian P Kratz, David Malkin, Pierre Hainaut, Sharon A Savage
The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute. Cell death and differentiation 29 (5) (2022)
A Rouf Banday, Megan L Stanifer, Oscar Florez-Vargas, Olusegun O Onabajo, Brenen W Papenberg, Muhammad Atif Zahoor, Lisa Mirabello, Timothy J Ring, Chia-Han Lee, Paul S Albert, Evangelos Andreakos, Evgeny Arons, Gregory S Barsh, Barbara B Biesecker, David L Boyle, Mark S Brahier, Andrea Burnett-Hartman, Mary N Carrington, Euijin Chang, Pyeong Gyun Choe, Rex L Chisholm, Leandro Machado Colli, Cliffton L Dalgard, Carolynn M Dude, Jeff Edberg, Nathan Erdmann, Heather Spencer Feigelson, Benedito Antônio Lopes da Fonseca, Gary S Firestein, Adam J Gehring, Cuncai Guo, Michelle Ho, Steven Holland, Amy A Hutchinson, Hogune Im, Les'Shon Irby, Michael G Ison, Naima T Joseph, Hong Bin Kim, Robert J Kreitman, Bruce R Korf, Steven M Lipkin, Siham M Mahgoub, Iman Mohammed, Guilherme L Paschoalini, Jennifer Allen Pacheco, Michael J Peluso, Daniel James Rader, David T Redden, Marylyn DeRiggi Ritchie, Brooke Rosenblum, Margaret Elizabeth Ross, Hanaisa P Sant Anna, Sharon A Savage, Sudha Sharma, Eleni Siouti, Alicia K Smith, Vasiliki Triantafyllia, Joselin M Vargas, Jose D Vargas, Anurag Verma, Vibha Vij, Duane R Wesemann, Meredith Yeager, Xu Yu, Yu Zhang, Steeve Boulant, Stephen J Chanock, Jordan J Feld, Ludmila Prokunina-Olsson
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries. Nature genetics 54 (8) (2022)
Sharon A Savage
Telomere biology disorders gain a family member. Blood 139 (7) (2022)
Lisa J McReynolds, Maryam Rafati, Youjin Wang, Bari J Ballew, Jung Kim, Valencia V Williams, Weiyin Zhou, Rachel M Hendricks, Casey L Dagnall, Neal D Freedman, Brian Carter, Sara Strollo, Belynda D Hicks, Bin Zhu, Kristine Jones, Sophie Paczesny, Steven G E Marsh, Stephen R Spellman, Meilun He, Tao Wang, Stephanie J Lee, Sharon A Savage, Shahinaz M Gadalla
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes. Blood 140 (8) (2022)
David Hoyos, Roberta Zappasodi, Isabell Schulze, Zachary Sethna, Kelvin César de Andrade, Dean F Bajorin, Chaitanya Bandlamudi, Margaret K Callahan, Samuel A Funt, Sine Reker Hadrup, Jeppe S Holm, Jonathan E Rosenberg, Sohrab P Shah, Ignacio Vàzquez-García, Jorge S Reis-Filho, Michelle Wu, Dmitriy Zamarin, Laura F Campitelli, Edward J Osborne, Mark Klinger, Harlan S Robins, Payal P Khincha, Sharon A Savage, Vinod P Balachandran, Jedd D Wolchok, Matthew D Hellmann, Taha Merghoub, Arnold J Levine, Marta Łuksza, Benjamin D Greenbaum
Fundamental immune-oncogenicity trade-offs define driver mutation fitness. Nature 606 (7912) (2022)
Martha S Linet, Graça M Dores, Sharon A Savage
Uncovering the Genetic Etiology of the (Posttherapy) Broken Heart. Journal of the National Cancer Institute 114 (8) (2022)
Ashley S Thompson, Nusrat Saba, Lisa J McReynolds, Saeeda Munir, Parvez Ahmed, Sumaira Sajjad, Kristine Jones, Meredith Yeager, Frank X Donovan, Settara C Chandrasekharappa, Blanche P Alter, Sharon A Savage, Sadia Rehman
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature. Molecular genetics & genomic medicine 9 (7) (2021)
Jung Kim, Matthew Gianferante, Danielle M Karyadi, Stephen W Hartley, Megan N Frone, Wen Luo, Leslie L Robison, Gregory T Armstrong, Smita Bhatia, Michael Dean, Meredith Yeager, Bin Zhu, Lei Song, Joshua N Sampson, Yutaka Yasui, Wendy M Leisenring, Seth A Brodie, Kelvin C de Andrade, Fernanda P Fortes, Alisa M Goldstein, Payal P Khincha, Mitchell J Machiela, Mary Lou McMaster, Michael L Nickerson, Leatrisse Oba, Alexander Pemov, Maisa Pinheiro, Melissa Rotunno, Karina Miranda Santiago, Talia Wegman-Ostrosky, W Ryan Diver, Lauren Teras, Neal D Freedman, Belynda D Hicks, Bin Zhu, Mingyi Wang, Kristine Jones, Amy A Hutchinson, Casey L Dagnall, Sharon A Savage, Margaret A Tucker, Stephen J Chanock, Lindsay M Morton, Douglas R Stewart, Lisa Mirabello
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 5 (2) (2021)
Marena R Niewisch, Neelam Giri, Lisa J McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P Alter, Sharon A Savage
Disease Progression and Clinical Outcomes in Telomere Biology Disorders. Blood (2021)
Leatrisse Oba, Ana F Best, Phuong L Mai, Maria Isabel Achatz, Paul S Albert, Sharon A Savage, Payal P Khincha
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome. Familial cancer (2021)
Fiorella Ghisays, Aitor Garzia, Hexiao Wang, Claudia Canasto-Chibuque, Marcel Hohl, Sharon A Savage, Thomas Tuschl, John H J Petrini
RTEL1 influences the abundance and localization of TERRA RNA. Nature communications 12 (1) (2021)
Seth A Brodie, Payal P Khincha, Neelam Giri, Aaron J Bouk, Mia Steinberg, Jieqiong Dai, Lea Jessop, Frank X Donovan, Settara C Chandrasekharappa, Kelvin C de Andrade, Irina Maric, Steven R Ellis, Lisa Mirabello, Blanche P Alter, Sharon A Savage
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles. Cold Spring Harbor molecular case studies 7 (4) (2021)
Neelam Giri, Blanche P Alter, Sharon A Savage, Pamela Stratton
Gynaecological and reproductive health of women with telomere biology disorders. British journal of haematology 193 (6) (2021)
Derek W Brown, Shu-Hong Lin, Po-Ru Loh, Stephen J Chanock, Sharon A Savage, Mitchell J Machiela
Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes. PLoS genetics 16 (10) (2020)
Saleh Bhar, Fujun Zhou, Lucas C Reineke, Danna K Morris, Payal P Khincha, Neelam Giri, Lisa Mirabello, Katie Bergstrom, Laramie D Lemon, Christopher L Williams, Yukimatsu Toh, M Tarek Elghetany, Richard E Lloyd, Blanche P Alter, Sharon A Savage, Alison A Bertuch
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Human mutation 41 (11) (2020)
Emilia Modolo Pinto, Bonald C Figueiredo, Wenan Chen, Henrique C R Galvao, Maria Nirvana Formiga, Maria Candida B V Fragoso, Patricia Ashton-Prolla, Enilze M S F Ribeiro, Gabriela Felix, Tatiana E B Costa, Sharon A Savage, Meredith Yeager, Edenir I Palmero, Sahlua Volc, Hector Salvador, Jose Luis Fuster-Soler, Cinzia Lavarino, Guillermo Chantada, Dominique Vaur, Vicente Odone-Filho, Laurence Brugières, Tobias Else, Elena M Stoffel, Kara N Maxwell, Maria Isabel Achatz, Luis Kowalski, Kelvin C de Andrade, Alberto Pappo, Eric Letouze, Ana Claudia Latronico, Berenice B Mendonca, Madson Q Almeida, Vania B Brondani, Camila M Bittar, Emerson W S Soares, Carolina Mathias, Cintia R N Ramos, Moara Machado, Weiyin Zhou, Kristine Jones, Aurelie Vogt, Payal P Klincha, Karina M Santiago, Heloisa Komechen, Mariana M Paraizo, Ivy Z S Parise, Kayla V Hamilton, Jinling Wang, Evadnie Rampersaud, Michael R Clay, Andrew J Murphy, Enzo Lalli, Kim E Nichols, Raul C Ribeiro, Carlos Rodriguez-Galindo, Marta Korbonits, Jinghui Zhang, Mark G Thomas, Jon P Connelly, Shondra Pruett-Miller, Yoan Diekmann, Geoffrey A Neale, Gang Wu, Gerard P Zambetti
XAF1 as a modifier of p53 function and cancer susceptibility. Science advances 6 (26) (2020)
Cristina Fortuno, Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L Mai, Kelvin César de Andrade, Laura D Attardi, Stephanie Crowley, D Gareth Evans, Bing-Jian Feng, Ann K M Foreman, Megan N Frone, Robert Huether, Paul A James, Kelly McGoldrick, Jessica L Mester, Bryce A Seifert, Thomas P Slavin, Leora Witkowski, Zarina Yelskaya, Sharon E Plon, Amanda B Spurdle, Sharon A Savage, null null
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Human mutation 42 (3) (2020)
Cristina Fortuno, Jessica L Mester, Tina Pesaran, Jeffrey N Weitzel, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, Judy E Garber, Sharon A Savage, Payal P Khincha, D Gareth Evans, Maria Isabel Achatz, Kim E Nichols, Kara N Maxwell, Joshua D Schiffman, Renata Sandoval, null null, Paul A James, Amanda B Spurdle
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Human mutation 41 (9) (2020)
Andrea M Gross, Megan Frone, Karen W Gripp, Bruce D Gelb, Lisa Schoyer, Lisa Schill, Beth Stronach, Barbara B Biesecker, Dominic Esposito, Edjay Ralph Hernandez, Eric Legius, Mignon L Loh, Staci Martin, Deborah K Morrison, Katherine A Rauen, Pamela L Wolters, Dina Zand, Frank McCormick, Sharon A Savage, Douglas R Stewart, Brigitte C Widemann, Marielle E Yohe
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. American journal of medical genetics. Part A 182 (4) (2020)
Farzana L Walcott, Ping-Yuan Wang, Christine M Bryla, Rebecca D Huffstutler, Neha Singh, Michael N Pollak, Payal P Khincha, Sharon A Savage, Phuong L Mai, Kevin W Dodd, Paul M Hwang, Antonio T Fojo, Christina M Annunziata
Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome. JNCI cancer spectrum 4 (6) (2020)
Seth A Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia Steinberg, Joshua J Waterfall, David Roberson, Bari J Ballew, Weiyin Zhou, Sarah L Anzick, Yuan Jiang, Yonghong Wang, Yuelin J Zhu, Paul S Meltzer, Joseph Boland, Blanche P Alter, Sharon A Savage
Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes. Cold Spring Harbor molecular case studies 6 (1) (2020)
Eléonore Toufektchan, Vincent Lejour, Romane Durand, Neelam Giri, Irena Draskovic, Boris Bardot, Pierre Laplante, Sara Jaber, Blanche P Alter, José-Arturo Londono-Vallejo, Sharon A Savage, Franck Toledo
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. Science advances 6 (15) (2020)
Sara J Schonfeld, Diana M Merino, Rochelle E Curtis, Amy Berrington de González, Megan M Herr, Ruth A Kleinerman, Sharon A Savage, Margaret A Tucker, Lindsay M Morton
Risk of Second Primary Bone and Soft-Tissue Sarcomas Among Young Adulthood Cancer Survivors. JNCI cancer spectrum 3 (3) (2019)
Neelam Giri, Sandhiya Ravichandran, Youjin Wang, Shahinaz M Gadalla, Blanche P Alter, Joseph Fontana, Sharon A Savage
Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. ERJ open research 5 (4) (2019)
Sonia Bhala, Ana F Best, Neelam Giri, Blanche P Alter, Maryland Pao, Andrea Gropman, Eva H Baker, Sharon A Savage
CNS manifestations in patients with telomere biology disorders. Neurology. Genetics 5 (6) (2019)
Payal P Khincha, Alison A Bertuch, Shahinaz M Gadalla, Neelam Giri, Blanche P Alter, Sharon A Savage
Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood advances 2 (11) (2019)
Seung Jun Shin, Elissa B Dodd-Eaton, Gang Peng, Jasmina Bojadzieva, Jingxiao Chen, Christopher Ian Amos, Megan N Frone, Payal P Khincha, Phuong L Mai, Sharon A Savage, Mandy L Ballinger, David M Thomas, Ying Yuan, Louise C Strong, Wenyi Wang
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts. Cancer research 80 (2) (2019)
Kelvin César de Andrade, Megan N Frone, Talia Wegman-Ostrosky, Payal P Khincha, Jung Kim, Amina Amadou, Karina M Santiago, Fernanda P Fortes, Nathanaël Lemonnier, Lisa Mirabello, Douglas R Stewart, Pierre Hainaut, Luiz P Kowalski, Sharon A Savage, Maria I Achatz
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. Human mutation 40 (1) (2018)
Sharon A Savage
Beginning at the ends: telomeres and human disease. F1000Research 7 (2018)
Shahinaz M Gadalla, Geraldine Aubert, Tao Wang, Michael Haagenson, Stephen R Spellman, Lingxiao Wang, Hormuzd A Katki, Sharon A Savage, Stephanie J Lee
Donor telomere length and causes of death after unrelated hematopoietic cell transplantation in patients with marrow failure. Blood 131 (21) (2018)
Cecilia Higgs, Yanick J Crow, Denise M Adams, Emmanuel Chang, Don Hayes, Utz Herbig, James N Huang, Ryan Himes, Kunal Jajoo, F Brad Johnson, Susan D Reynolds, Yoshihiro Yonekawa, Mary Armanios, Farid Boulad, Courtney D DiNardo, Carlo Dufour, Frederick D Goldman, Shakila Khan, Christian Kratz, Kasiani C Myers, Ganesh Raghu, Blanche P Alter, Geraldine Aubert, Sonia Bhala, Edward W Cowen, Yigal Dror, Mounif El-Youssef, Bruce Friedman, Neelam Giri, Lisa Helms Guba, Payal P Khincha, Tiffany F Lin, Hilary Longhurst, Lisa J McReynolds, Adam Nelson, Tim Olson, Anne Pariser, Rosario Perona, Ghadir Sasa, Kristen Schratz, Douglas A Simonetto, Danielle Townsley, Michael Walsh, Katherine Stevens, Suneet Agarwal, Alison A Bertuch, Sharon A Savage, null null
Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis 22 (1) (2018)
Rachel A Ungar, Neelam Giri, Maryland Pao, Payal P Khincha, Weiyin Zhou, Blanche P Alter, Sharon A Savage
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants. American journal of medical genetics. Part A 176 (6) (2018)
Shahinaz M Gadalla, Tao Wang, David Loftus, Lyssa Friedman, Casey L Dagnall, Michael Haagenson, Stephen R Spellman, Ljubomir Buturovic, Marsha Blauwkamp, Jason Shelton, Katharina Fleischhauer, Katharine C Hsu, Michael R Verneris, Damjan Krstajic, Belynda Hicks, Kristine Jones, Stephanie J Lee, Sharon A Savage
No association between donor telomere length and outcomes after allogeneic unrelated hematopoietic cell transplant in patients with acute leukemia. Bone marrow transplantation 53 (4) (2017)
Neelam Giri, Pamela Stratton, Sharon A Savage, Blanche P Alter
Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. Blood 130 (14) (2017)
Casey L Dagnall, Belynda Hicks, Kedest Teshome, Amy A Hutchinson, Shahinaz M Gadalla, Payal P Khincha, Meredith Yeager, Sharon A Savage
Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement. PloS one 12 (9) (2017)
Jialin Xu, Payal P Khincha, Neelam Giri, Blanche P Alter, Sharon A Savage, Judy M Y Wong
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations. American journal of hematology 91 (12) (2016)
Jennifer T Loud, Renee C Bremer, Phuong L Mai, June A Peters, Neelam Giri, Douglas R Stewart, Mark H Greene, Blanche P Alter, Sharon A Savage
Research participant interest in primary, secondary, and incidental genomic findings. Genetics in medicine : official journal of the American College of Medical Genetics 18 (12) (2016)
Mitchell J Machiela, Weiyin Zhou, Eric Karlins, Joshua N Sampson, Neal D Freedman, Qi Yang, Belynda D Hicks, Casey L Dagnall, Christopher Hautman, Kevin B Jacobs, Christian C Abnet, Melinda C Aldrich, Christopher Amos, Laufey T Amundadottir, Alan A Arslan, Laura E Beane-Freeman, Sonja I Berndt, Amanda Black, William J Blot, Cathryn H Bock, Paige M Bracci, Louise A Brinton, H Bas Bueno-de-Mesquita, Laurie Burdett, Julie E Buring, Mary A Butler, Frederico Canzian, Tania Carreón, Kari G Rabe, I-Shou Chang, Nilanjan Chatterjee, Chu Chen, Constance Chen, Kexin Chen, Charles C Chung, Linda S Cook, Marta Crous Bou, Michael Cullen, Faith G Davis, Immaculata De Vivo, Ti Ding, Jennifer Doherty, Eric J Duell, Caroline G Epstein, Jin-Hu Fan, Jonine D Figueroa, Joseph F Fraumeni, Christine M Friedenreich, Charles S Fuchs, Steven Gallinger, Yu-Tang Gao, Susan M Gapstur, Montserrat Garcia-Closas, Mia M Gaudet, J Michael Gaziano, Graham G Giles, Elizabeth M Gillanders, Edward L Giovannucci, Lynn Goldin, Alisa M Goldstein, Christopher A Haiman, Goran Hallmans, Susan E Hankinson, Curtis C Harris, Roger Henriksson, Elizabeth A Holly, Yun-Chul Hong, Robert N Hoover, Chao A Hsiung, Nan Hu, Wei Hu, David J Hunter, Amy Hutchinson, Mazda Jenab, Christoffer Johansen, Kay-Tee Khaw, Hee Nam Kim, Yeul Hong Kim, Young Tae Kim, Alison P Klein, Robert Klein, Woon-Puay Koh, Laurence N Kolonel, Charles Kooperberg, Peter Kraft, Vittorio Krogh, Robert C Kurtz, Andrea LaCroix, Qing Lan, Maria Teresa Landi, Loic Le Marchand, Donghui Li, Xiaolin Liang, Linda M Liao, Dongxin Lin, Jianjun Liu, Jolanta Lissowska, Lingeng Lu, Anthony M Magliocco, Nuria Malats, Keitaro Matsuo, Lorna H McNeill, Robert R McWilliams, Beatrice S Melin, Lisa Mirabello, Lee Moore, Sara H Olson, Irene Orlow, Jae Yong Park, Ana Patiño-Garcia, Beata Peplonska, Ulrike Peters, Gloria M Petersen, Loreall Pooler, Jennifer Prescott, Ludmila Prokunina-Olsson, Mark P Purdue, You-Lin Qiao, Preetha Rajaraman, Francisco X Real, Elio Riboli, Harvey A Risch, Benjamin Rodriguez-Santiago, Avima M Ruder, Sharon A Savage, Fredrick Schumacher, Ann G Schwartz, Kendra L Schwartz, Adeline Seow, Veronica Wendy Setiawan, Gianluca Severi, Hongbing Shen, Xin Sheng, Min-Ho Shin, Xiao-Ou Shu, Debra T Silverman, Margaret R Spitz, Victoria L Stevens, Rachael Stolzenberg-Solomon, Daniel O Stram, Ze-Zhong Tang, Philip R Taylor, Lauren R Teras, Geoffrey S Tobias, David Van Den Berg, Kala Visvanathan, Sholom Wacholder, Jiu-Cun Wang, Zhaoming Wang, Nicolas Wentzensen, William Wheeler, Emily White, John K Wiencke, Brian M Wolpin, Maria Pik Wong, Chen Wu, Tangchun Wu, Xifeng Wu, Yi-Long Wu, Jay S Wunder, Lucy Xia, Hannah P Yang, Pan-Chyr Yang, Kai Yu, Krista A Zanetti, Anne Zeleniuch-Jacquotte, Wei Zheng, Baosen Zhou, Regina G Ziegler, Luis Alberto Pérez-Jurado, Neil E Caporaso, Nathaniel Rothman, Margaret Tucker, Michael C Dean, Meredith Yeager, Stephen J Chanock
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. Nature communications 7 (2016)
Arun Balakumaran, Prasun J Mishra, Edyta Pawelczyk, Sayuri Yoshizawa, Brian J Sworder, Natasha Cherman, Sergei A Kuznetsov, Paolo Bianco, Neelam Giri, Sharon A Savage, Glenn Merlino, Bogdan Dumitriu, Cynthia E Dunbar, Neal S Young, Blanche P Alter, Pamela G Robey
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. Blood 125 (5) (2014)

Sharon A Savage.css-eqlu8i{font-size:small;padding-left:4px;}

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Sharon A Savage