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Robert L. Nussbaum

labcorp genetics inc

82H-index
500Paper Count
2.7WCitation Count
Published Papers 117
Publication Date
From expert knowledge to validation resources – a case for using in silico approaches to close the gap in available reference materials for common germline genetic tests
err2025-08-20
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PREAI
errSomak Roy; Martine W. Tremblay; Edward Lockhart; Swaroop Aradhya; Pinar Bayrak-Toydemir; Mark Bowser; Jeana DaRe; Kristin Gibson; Michael Kennemer; Christopher Krueger; Matt Lebo; Rong Mao; Robert Nussbaum; Brendan O'Fallon; Andrew Rosato; Lisa V. Kalman; Birgit Funke
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Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
err2025-04-23
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errOAAI
errToby R. Manders; Christopher A. Tan; Yuya Kobayashi; Alexander Wahl; Carlos Araya; Alexandre Colavin; Flavia M. Facio; Hillery Metz; Jason Reuter; Laure Frésard; Samskruthi R. Padigepati; David A. Stafford; Robert L. Nussbaum; Keith Nykamp
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Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study
err2024-06-01
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PREAI
errAbdel-Razeq, Hikmat; Sharaf, Baha'; Bani Hani, Hira; Abu Hijlih, Ramiz; Alkyam, Mais; Al-Azzam, Khansa; Elemian, Shatha; Tbakhi, Abdelghani; Al-Atary, Areej; Ellsworth, Rachel E.; Russell, Emily M.; Esplin, Edward D.; Horani, Malek; Zeidan, Zeidan; Alzibdeh, Abdulla; Heald, Brandie; Nielsen, Sarah M.; Nussbaum, Robert L.
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Continuous, probabilistic variant interpretation with Bayesian graphical models
err2024-03-22
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PREAI
errKorn, Wolfgang Michael; Kobayashi, Yuya; Facio, Flavia M.; Nampally, Arun; Nykamp, Keith; Nussbaum, Robert; Colavin, Alexandre; Johnson, Britt; Manders, Toby
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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
err2024-02-22
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errOAAI
errJain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M.
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Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy
err2024-02-01
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PREAI
errMorales, Ana; Moretz, Chad; Ren, Sheng; Smith, Elizabeth; Callis, Thomas E.; Hall, Taryn; Hatchell, Kathryn E.; Nussbaum, Robert L.; Regalado, Ellen; Rojahn, Susan; Vatta, Matteo; Esplin, Edward D.; Murillo, Jaime
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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
err2023-10-01
err8
errOAAI
errvan Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Fresard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C. H.; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K.; Desnick, Robert J.; Garton, Michael; Roth, Frederick P.
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Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial
err2023-10-01
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errOAAI
errShore, Neal; Gazi, Mukaram; Pieczonka, Christopher; Heron, Sean; Modh, Rishi; Cahn, David; Belkoff, Laurence H.; Berger, Aaron; Mazzarella, Brian; Veys, Joseph; Idom, Charles; Morris, David; Jayram, Gautam; Engelman, Alexander; Bukkapatnam, Raviender; Dato, Paul; Bevan-Thomas, Richard; Cornell, Robert; Wise, David R.; Hardwick, Mary Kay; Hernandez, Ryan D.; Rojahn, Susan; Layman, Paige; Hatchell, Kathryn E.; Heald, Brandie; Nussbaum, Robert L.; Nielsen, Sarah M.; Esplin, Edward D.
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Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives
err2023-09-26
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errOAAI
errHeald, Brandie; Pirzadeh-Miller, Sara; Ellsworth, Rachel E.; Nielsen, Sarah M.; Russell, Emily M.; Beitsch, Peter; Esplin, Edward D.; Nussbaum, Robert L.; Pineda-Alvarez, Daniel E.; Kurian, Allison W.; Hampel, Heather
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Universal genetic testing for hereditary cancer syndromes in an under-represented minority population
err2023-04-04
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PREAI
errKhadarian, Kevork A.; Pisipati, Sailaja; Jones, Jeremy C.; Colon-Otero, Gerardo; Northfelt, Donald W.; Gary, Lindsey; Ekpoh, Idara U.; Moreno, Giovanna G.; Esplin, Edward D.; Nussbaum, Robert; Heald, Brandie; Klint, Margaret A.; Barrus, Kathleen A.; Bekaii-Saab, Tanios S.; Sekulic, Aleksandar; Golafshar, Michael A.; Kunze, Katie L.; Willman, Cheryl L.; Lazaridis, Konstantinos N.; Samadder, Niloy Jewel
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Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
err2023-04-01
err10
errOAAI
errTruty, Rebecca; Rojahn, Susan; Ouyang, Karen; Kautzer, Curtis; Kennemer, Michael; Pineda-Alvarez, Daniel; Johnson, Britt; Stafford, Amanda; Basel-Salmon, Lina; Saitta, Sulagna; Slavotinek, Anne; Chandrasekharappa, Settara C.; Suarez, Carlos Jose; Burnett, Leslie; Nussbaum, Robert L.; Aradhya, Swaroop
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A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes
err2023-03-01
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errOAAI
errKamps-Hughes, Nick; Carlton, Victoria E. H.; Fresard, Laure; Osazuwa, Steve; Starks, Elizabeth; Vincent, John J.; Albritton, Sarah; Nussbaum, Robert L.; Nykamp, Keith
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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing
err2022-09-01
err34
errOAAI
errDellefave-Castillo, Lisa M.; Cirino, Allison L.; Callis, Thomas E.; Esplin, Edward D.; Garcia, John; Hatchell, Kathryn E.; Johnson, Britt; Morales, Ana; Regalado, Ellen; Rojahn, Susan; Vatta, Matteo; Nussbaum, Robert L.; McNally, Elizabeth M.
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Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study
err2022-07-01
err13
errOAAI
errOssa Gomez, Carlos Andres; Achatz, Maria Isabel; Hurtado, Mabel; Sanabria-Salas, Maria Carolina; Sullcahuaman, Yasser; Chavarri-Guerra, Yanin; Dutil, Julie; Nielsen, Sarah M.; Esplin, Edward D.; Michalski, Scott T.; Bristow, Sara L.; Hatchell, Kathryn E.; Nussbaum, Robert L.; Pineda-Alvarez, Daniel E.; Ashton-Prolla, Patricia
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Germline alterations among Hispanic men with prostate cancer (April, 10.1038/s41391-022-00539-0, 2022)
err2022-04-29
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errOAAI
errPan, Elizabeth; Shaya, Justin; Madlensky, Lisa; Randall, J. Michael; Javier-Desloges, Juan; Millard, Frederick E.; Rose, Brent; Parsons, J. Kellogg; Nielsen, Sarah M.; Hatchell, Kathryn E.; Esplin, Edward D.; Nussbaum, Robert L.; Weise, Nicole; Murphy, James; Martinez, Maria Elena; McKay, Rana R.
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Genetics professionals ' perspectives on the reporting of Variants of Uncertain Significance (VUS): Should they always be reported?
err2022-03-01
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errOAAI
errEsplin, Edward; Fox, Michelle; Saitta, Sulagna; Santani, Avni; Aradhya, Swaroop; Bernstein, Jonathan; Nussbaum, Robert
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Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study
err2022-03-01
err44
PREAI
errUson, Pedro L. S., Jr.; Riegert-Johnson, Douglas; Boardman, Lisa; Kisiel, John; Mountjoy, Luke; Patel, Neej; Lizaola-Mayo, Blanca; Borad, Mitesh J.; Ahn, Daniel; Sonbol, Mohamad B.; Jones, Jeremy; Leighton, Jonathan A.; Gurudu, Suryakanth; Singh, Harminder; Klint, Margaret; Kunze, Katie L.; Golafshar, Michael A.; Esplin, Ed D.; Nussbaum, Robert L.; Stewart, A. Keith; Bekaii-Saab, Tanio S.; Samadder, Niloy Jewel
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Inherited TP53 Variants and Risk of Prostate Cancer
err2022-03-01
err47
errOAAI
errMaxwell, Kara N.; Cheng, Heather H.; Powers, Jacquelyn; Gulati, Roman; Ledet, Elisa M.; Morrison, Casey; Le, Anh; Hausler, Ryan; Stopfer, Jill; Hyman, Sophie; Kohlmann, Wendy; Naumer, Anne; Vagher, Jennie; Greenberg, Samantha E.; Naylor, Lorraine; Laurino, Mercy; Konnick, Eric Q.; Shirts, Brian H.; AlDubayan, Saud H.; Van Allen, Eliezer M.; Nguyen, Bastien; Vijai, Joseph; Abida, Wassim; Carlo, Maria, I; Dubard-Gault, Marianne; Lee, Daniel J.; Maese, Luke D.; Mandelker, Diana; Montgomery, Bruce; Morris, Michael J.; Nicolosi, Piper; Nussbaum, Robert L.; Schwartz, Lauren E.; Stadler, Zsofia; Garber, Judy E.; Offit, Kenneth; Schiffman, Joshua D.; Nelson, Peter S.; Sartor, Oliver; Walsh, Michael F.; Pritchard, Colin C.
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Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits
err2021-11-04
err50
errOAAI
errNazareth, Shivani; Hayward, Laura; Simmons, Emilie; Snir, Moran; Hatchell, Kathryn E.; Rojahn, Susan; Slotnick, Robert Nathan; Nussbaum, Robert L.
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study (vol 19, 199, 2021)
err2021-11-03
err3
errOAAI
errHaverfield, Eden V.; Esplin, Edward D.; Aguilar, Sienna J.; Hatchell, Kathryn E.; Ormond, Kelly E.; Hanson-Kahn, Andrea; Atwal, Paldeep S.; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W. -M.; Tucker, Steven; Bleyl, Steven B.; Hulick, Peter J.; Gordon, Ora K.; Velsher, Lea; Gu, Jessica Y. J.; Weissman, Scott M.; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A.; Green, Robert C.; Aradhya, Swaroop; Nussbaum, Robert L.
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