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A

Arleen D. Auerbach

rockefeller university
H指数:60
被引数:1.5万

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BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1-、BRCA2-和PALB2相关的范可尼贫血：扩展疾病表型特征并预测杂合子乳腺癌风险的潜力

The American Journal of Human Genetics
IF0
2025-10-300
PRE
Sharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer
Nature
IF48.5
2022-11-300
PRE
Andrew L. H. Webster; Mathijs A. Sanders; Krupa Patel; Ralf Dietrich; Raymond J. Noonan; Francis P. Lach; Ryan R. White; Audrey Goldfarb; Kevin Hadi; Matthew M. Edwards; Frank X. Donovan; Remco M. Hoogenboezem; Moonjung Jung; Sunandini Sridhar; Tom F. Wiley; Olivier Fedrigo; Huasong Tian; Joel Rosiene; Thomas Heineman; Jennifer A. Kennedy; Lorenzo Bean; Rasim O. Rosti; Rebecca Tryon; Ashlyn-Maree Gonzalez; Allana Rosenberg; Ji-Dung Luo; Thomas S. Carroll; Sanjana Shroff; Michael Beaumont; Eunike Velleuer; Jeff C. Rastatter; Susanne I. Wells; Jordi Surrallés; Grover Bagby; Margaret L. MacMillan; John E. Wagner; Maria Cancio; Farid Boulad; Theresa Scognamiglio; Roger Vaughan; Kristin G. Beaumont; Amnon Koren; Marcin Imielinski; Settara C. Chandrasekharappa; Arleen D. Auerbach; Bhuvanesh Singh; David I. Kutler; Peter J. Campbell; Agata Smogorzewska
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

南亚人群的创始人变异导致印度FANCL Fanconi贫血病例的高患病率

HUMAN MUTATION
IF3.7
2019-09-2610
OAAI
Donovan, Frank X.; Solanki, Avani; Mori, Minako; Chavan, Niranjan; George, Merin; Kumar, Selvaa C.; Okuno, Yusuke; Muramastsu, Hideki; Yoshida, Kenichi; Shimamoto, Akira; Takaori-Kondo, Akifumi; Yabe, Hiromasa; Ogawa, Seishi; Kojima, Seiji; Yabe, Miharu; Ramanagoudr-Bhojappa, Ramanagouda; Smogorzewska, Agata; Mohan, Sheila; Rajendran, Aruna; Auerbach, Arleen D.; Takata, Minoru; Chandrasekharappa, Settara C.; Vundinti, Babu Rao
Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes
HUMAN MUTATION
IF3.7
2014-08-0139
OAAI
Flynn, Elizabeth K.; Kamat, Aparna; Lach, Francis P.; Donovan, Frank X.; Kimble, Danielle C.; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M.; Gillio, Alfred P., III; Harris, Richard E.; MacMillan, Margaret L.; Wagner, John E.; Smogorzewska, Agata; Auerbach, Arleen D.; Ostrander, Elaine A.; Chandrasekharappa, Settara C.
Human variome project country nodes: Documenting genetic information within a country
HUMAN MUTATION
IF3.7
2012-07-187
OAAI
Patrinos, George P.; Smith, Timothy D.; Howard, Heather; Al-Mulla, Fand; Chouchane, Lotfi; Hadjisavvas, Andreas; Hamed, Sherifa A.; Li, Xi-Tao; Marafie, Makia; Ramesar, Rajkumar S.; Ramos, Feliciano J.; de Rave, Thomy; El-Ruby, Mona O.; Shrestha, Tilak Ram; Sobrido, Maria-Jess; Tadmouri, Ghazi; Witsch-Baumgartner, Martina; Zilfali, Bin Alwi; Auerbach, Arleen D.; Carpenter, Kevin; Cutting, Garry R.; Vu Chi Dung; Grody, Wayne; Hasler, Julia; Jorde, Lynn; Kaput, Jim; Macek, Milan; Matsubara, Yoichi; Padilla, Carmancita; Robinson, Helen; Rojas-Martinez, Augusto; Taylor, Graham R.; Vihinen, Mauno; Weber, Tom; Burn, John; Qi, Ming; Cotton, Richard G. H.; Rimoin, David
How to Catch All Those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
HUMAN MUTATION
IF3.7
2010-11-2233
OAAI
Kohonen-Corish, Maija R. J.; Al-Aama, Jumana Y.; Auerbach, Arleen D.; Axton, Myles; Barash, Carol Isaacson; Bernstein, Inge; Beroud, Christophe; Burn, John; Cunningham, Fiona; Cutting, Garry R.; den Dunnen, Johan T.; Greenblatt, Marc S.; Kaput, Jim; Katz, Michael; Lindblom, Annika; Macrae, Finlay; Maglott, Donna; Moeslein, Gabriela; Povey, Sue; Ramesar, Raj; Richards, Sue; Seminara, Daniela; Sobrido, Maria-Jesus; Tavtigian, Sean; Taylor, Graham; Vihinen, Mauno; Winship, Ingrid; Cotton, Richard G. H.
Planning the Human Variome Project: The Spain Report

规划人类Variome项目: 西班牙报告

HUMAN MUTATION
IF3.7
2009-01-2041
OAAI
Kaput, Jim; Cotton, Richard G. H.; Hardman, Lauren; Watson, Michael; Al Aqeel, Aida I.; Al-Aama, Jumana Y.; Al-Mulla, Fahd; Alonso, Santos; Aretz, Stefan; Auerbach, Arleen D.; Bapat, Bharati; Bernstein, Inge T.; Bhak, Jong; Bleoo, Stacey L.; Bloecker, Helmut; Brenner, Steven E.; Burn, John; Bustamante, Mariona; Calone, Rita; Cambon-Thomsen, Anne; Cargill, Michele; Carrera, Paola; Cavedon, Lawrence; Cho, Yoon Shin; Chung, Yeun-Jun; Claustres, Mireille; Cutting, Garry; Dalgleish, Raymond; den Dunnen, Johan T.; Diaz, Carlos; Dobrowolski, Steven; dos Santos, M. Rosario N.; Ekong, Rosemary; Flanagan, Simon B.; Flicek, Paul; Furukawa, Yoichi; Genuardi, Maurizio; Ghang, Ho; Golubenko, Maria V.; Greenblatt, Marc S.; Hamosh, Ada; Hancock, John M.; Hardison, Ross; Harrison, Terence M.; Hoffmann, Robert; Horaitis, Rania; Howard, Heather J.; Barash, Carol Isaacson; Izagirre, Neskuts; Jung, Jongsun; Kojima, Toshio; Laradi, Sandrine; Lee, Yeon-Su; Lee, Jong-Young; Gil-da-Silva-Lopes, Vera L.; Macrae, Finlay A.; Maglott, Donna; Marafie, Makia J.; Marsh, Steven G. E.; Matsubara, Yoichi; Messiaen, Ludwine M.; Moeslein, Gabriela; Netea, Mihai G.; Norton, Melissa L.; Oefner, Peter J.; Oetting, William S.; O'Leary, James C.; Oller de Ramirez, Ana Maria; Paalman, Mark H.; Parboosingh, Jillian; Patrinos, George P.; Perozzi, Giuditta; Phillips, Ian R.; Povey, Sue; Prasad, Suyash; Qi, Ming; Quin, David J.; Ramesar, Rajkumar S.; Richards, C. Sue; Savige, Judith; Scheible, Dagmar G.; Scott, Rodney J.; Seminara, Daniela; Shephard, Elizabeth A.; Sijmons, Rolf H.; Smith, Timothy D.; Sobrido, Maria-Jesus; Tanaka, Toshihiro; Tavtigian, Sean V.; Taylor, Graham R.; Teague, Jon; Toepel, Thoralf; Ullman-Cullere, Mollie; Utsunomiya, Joji; van Kranen, Henk J.; Vihinen, Mauno; Webb, Elizabeth; Weber, Thomas K.; Yeager, Meredith; Yeom, Young I.; Yim, Seon-Hee; Yoo, Hyang-Sook

研究方向

暂未获取到该数据
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Helmut Hanenberg
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A
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Francis P. Lach
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D
Detlev Schindler
H 指数:56论文数:255被引数:1.2万
S
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H 指数:61论文数:227被引数:2.3万
C
Christopher G. Mathew
H 指数:102论文数:495被引数:5.3万
M
Mauno Vihinen
H 指数:65论文数:401被引数:1.6万
K
Kornelia Neveling
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