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K

Karen E. Wain

Harvard University
H指数:20
被引数:1,181

个人简介

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教育背景

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工作经历

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荣誉奖项

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Genomic Screening at a Single Health System

单一医疗系统的基因组筛查

JAMA NETWORK OPEN
IF9.7
2025-03-170
OA
Savatt, Juliann M.; Kelly, Melissa A.; Sturm, Amy C.; Mccormick, Cara Z.; Williams, Marc S.; Nixon, Michelle Pistner; Rolston, David D.; Strande, Natasha T.; Wain, Karen E.; Willard, Huntington F.; Faucett, W. Andrew; Ledbetter, David H.; Buchanan, Adam H.; Martin, Christa L.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
BRAIN
IF11.7
2021-08-2577
OA
Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; van der Zwaag, Bert; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
GENETICS IN MEDICINE
IF6.2
2020-05-0124
OAAI
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (vol 19, pg 238, 2020)
GENETICS IN MEDICINE
IF6.2
2020-04-013
OAAI
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; Mckee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

开发一种概念性的，可重复的，基于规则的方法，以同意和结果披露具有最低遗传学背景的临床医生进行基因检测

GENETICS IN MEDICINE
IF6.2
2019-03-0141
OAAI
Ormond, Kelly E.; Hallquist, Miranda L. G.; Buchanan, Adam H.; Dondanville, Danielle; Cho, Mildred K.; Smith, Maureen; Roche, Myra; Brothers, Kyle B.; Coughlin, Curtis R., II; Hercher, Laura; Hudgins, Louanne; Jamal, Seema; Levy, Howard P.; Raskin, Misha; Stosic, Melissa; Uhlmann, Wendy; Wain, Karen E.; Currey, Erin; Faucett, W. Andrew
ClinGen's GenomeConnect registry enables patient-centered data sharing

ClinGen的GenomeConnect注册表可实现以患者为中心的数据共享

HUMAN MUTATION
IF3.7
2018-10-1128
OAAI
Savatt, Juliann M.; Azzariti, Danielle R.; Faucett, W. Andrew; Harrison, Steven; Hart, Jennifer; Kattman, Brandi; Landrum, Melissa J.; Ledbetter, David H.; Miller, Vanessa Rangel; Palen, Emily; Rehm, Heidi L.; Rhode, Jud; Turner, Stefanie; Vidal, Jo Anne; Wain, Karen E.; Riggs, Erin Rooney; Martin, Christa Lese

研究方向

暂未获取到该数据
C
Christa Lese Martin
H 指数:48论文数:162被引数:1.8万
D
David H. Ledbetter
H 指数:112论文数:495被引数:5.8万
J
Juliann M. Savatt
H 指数:19论文数:79被引数:1,353
W
W. Andrew Faucett
H 指数:26论文数:50被引数:7,328
B
Brenda Finucane
H 指数:32论文数:111被引数:4,649
S
Scott M. Myers
H 指数:33论文数:142被引数:9,283
E
Emily Palen
H 指数:8论文数:18被引数:711
M
Matthew T. Oetjens
H 指数:25论文数:80被引数:3,116
A
Adam H. Buchanan
H 指数:35论文数:164被引数:5,652
T
Thomas D. Challman
H 指数:17论文数:38被引数:1,982