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J

Joann Bodurtha

Johns Hopkins University

37H指数
229论文数
5.5K被引数
收录论文 51
发表时间
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder致病性XPO1变异导致显性神经发育障碍
err2025-08-13
err0
errOAAI
errAmber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
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The 2023 medical genetics workforce in the United States2023年美国医学遗传学劳动力
err2025-05-23
err0
PREAI
errMegan Lyon; Deborah Maiese; Miriam G. Blitzer; Rhonda West; Vivian Pan; Cinthya Zepeda Mendoza; Laurie M. Connors; Beth Ogata; Erin MacLeod; Nguyen Park; Marci K. Sontag; Molly Caisse; Mathew J. Edick; Sylvia Mann; Kunal Sanghavi; Joann Bodurtha
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The 2019 medical genetics workforce: A focus on laboratory geneticists2019医学遗传学劳动力: 实验室遗传学家的重点
err2023-06-01
err3
PREAI
errMaiese, Deborah R.; Lyon, Megan; V. Reddi, Honey; Blitzer, Miriam G.; Bodurtha, Joann N.; Muenke, Maximilian
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Response to Hamosh et al.
err2021-09-01
err3
errOAAI
errHamosh, Ada; Amberger, Joanna S.; Bocchini, Carol A.; Bodurtha, Joann; Bult, Carol J.; Chute, Christopher G.; Cutting, Garry R.; Dietz, Harry C.; Firth, Helen V.; Gibbs, Richard A.; Grody, Wayne W.; Haendel, Melissa A.; Lupski, James R.; Posey, Jennifer E.; Robinson, Peter N.; Schriml, Lynn M.; Scott, Alan F.; Sobreira, Nara L.; Valle, David; Wu, Nan; Rasmussen, Sonja A.
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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyOTOF相关听神经病谱系障碍的自然史: 一项多中心研究
err2021-08-23
err12
errOAAI
errThorpe, Ryan K.; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G. Bradley; Peters, B. Robert; Chan, Kenny H.; Schatz, Krista S.; Bodurtha, Joann; Robin, Nathaniel H.; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J. H.
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The 2019 US medical genetics workforce: a focus on clinical genetics
err2021-08-01
err92
errOAAI
errJenkins, Brittany D.; Fischer, Catherine G.; Polito, Curt A.; Maiese, Deborah R.; Keehn, Alisha S.; Lyon, Megan; Edick, Mathew J.; Taylor, Matthew R. G.; Andersson, Hans C.; Bodurtha, Joann N.; Blitzer, Miriam G.; Muenke, Maximilian; Watson, Michael S.
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Where culture meets genetics: Exploring Latina immigrants' lay beliefs of disease inheritance
err2021-02-01
err6
errOAAI
errFiallos, Katie; Owczarzak, Jill; Bodurtha, Joann; Margarit, Sonia Beatriz; Erby, Lori
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Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
err2021-01-22
err27
errOAAI
errBeck, David B.; Basar, Mohammed A.; Asmar, Anthony J.; Thompson, Joyce J.; Oda, Hirotsugu; Uehara, Daniela T.; Saida, Ken; Pajusalu, Sander; Talvik, Inga; D'Souza, Precilla; Bodurtha, Joann; Mu, Weiyi; Baranano, Kristin W.; Miyake, Noriko; Wang, Raymond; Kempers, Marlies; Tamada, Tomoko; Nishimura, Yutaka; Okada, Satoshi; Kosho, Tomoki; Dale, Ryan; Mitra, Apratim; Macnamara, Ellen; Matsumoto, Naomichi; Inazawa, Johji; Walkiewicz, Magdalena; Ounap, Katrin; Tifft, Cynthia J.; Aksentijevich, Ivona; Kastner, Daniel L.; Rocha, Pedro P.; Werner, Achim
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It's a Little Different for Men-Sponsorship and Gender in Academic Medicine: a Qualitative Study
err2020-06-29
err50
errOAAI
errLevine, Rachel B.; Ayyala, Manasa S.; Skarupski, Kimberly A.; Bodurtha, Joann N.; Fernandez, Marlis Gonzalez; Ishii, Lisa E.; Fivush, Barbara
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A structured genetics rotation for pediatric residents: an important educational opportunity儿科居民的结构化遗传学轮换: 重要的教育机会
err2020-04-01
err8
errOAAI
errForsyth, RaeLynn; Mu, Weiyi; Gibson, Laura; Serwint, Janet R.; Shilkofski, Nicole; Bodurtha, Joann
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Regional models of genetic services in the United States
err2020-02-01
err11
errOAAI
errKaye, Celia; Bodurtha, Joann; Edick, Mathew; Ginsburg, Susanna; Keehn, Alisha; Lloyd-Puryear, Michele; Doyle, Debra Lochner; Lyon, Megan; Ostrander, Robert; Taylor, Matthew
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Regional models of genetic services in the United States (vol 12, pg 287, 2019)
err2020-01-01
err0
errOAAI
errKaye, Celia; Bodurtha, Joann; Edick, Mathew; Ginsburg, Susanna; Keehn, Alisha; Lloyd-Puryear, Michele; Doyle, Debra Lochner; Lyon, Megan; Ostrander, Robert; Taylor, Matthew
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Identifying Gender Disparities and Barriers to Measuring the Status of Female Faculty: The Experience of a Large School of Medicine
err2019-11-01
err20
errOAAI
errKuo, Irene C.; Levine, Rachel B.; Gauda, Estelle B.; Bodurtha, Joann; Clements, Janice; Fivush, Barbara; Ishii, Lisa
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Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education
err2019-02-01
err9
errOAAI
errLee-Barber, Jasmine; Kulo, Violet; Lehmann, Harold; Hamosh, Ada; Bodurtha, Joann
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Mentorship Is Not Enough: Exploring Sponsorship and Its Role in Career Advancement in Academic Medicine指导是不够的: 探索赞助及其在学术医学职业发展中的作用
err2019-01-01
err198
errOAAI
errAyyala, Manasa S.; Skarupski, Kimberly; Bodurtha, Joann N.; Gonzalez-Fernandez, Marlis; Ishii, Lisa E.; Fivush, Barbara; Levine, Rachel B.
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A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics
err2018-05-01
err7
PREAI
errSmith, Anna Jo; Turner, Elizabeth L.; Kinra, Sanjay; Bodurtha, Joann N.; Chien, Alyna T.
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PhenX measures for phenotyping rare genetic conditions用于罕见遗传条件的表型分型的PhenX措施
err2017-07-01
err31
errOAAI
errPhillips, Michael; Grant, Tracey; Giampietro, Philip; Bodurtha, Joann; Valdez, Rodolfo; Maiese, Deborah R.; Hendershot, Tabitha; Terry, Sharon F.; Hamilton, Carol M.
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
err2017-04-01
err69
errOAAI
errBekheirnia, Mir Reza; Bekheirnia, Nasim; Bainbridge, Matthew N.; Gu, Shen; Akdemir, Zeynep Hande Coban; Gambin, Tomek; Janzen, Nicolette K.; Jhangiani, Shalini N.; Muzny, Donna M.; Michael, Mini; Brewer, Eileen D.; Elenberg, Ewa; Kale, Arundhati S.; Riley, Alyssa A.; Swartz, Sarah J.; Scott, Daryl A.; Yang, Yaping; Srivaths, Poyyapakkam R.; Wenderfer, Scott E.; Bodurtha, Joann; Applegate, Carolyn D.; Velinov, Milen; Myers, Angela; Borovik, Lior; Craigen, William J.; Hanchard, Neil A.; Rosenfeld, Jill A.; Lewis, Richard Alan; Gonzales, Edmond T.; Gibbs, Richard A.; Belmont, John W.; Roth, David R.; Eng, Christine; Braun, Michael C.; Lupski, James R.; Lamb, Dolores J.
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