학술논문
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'학술논문'
에서 검색결과 217건 | 목록
1~20
Academic Journal
Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y.; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y.; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E.; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O.; Coughlin, Arielle C.; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S.; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B.; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K.; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K.; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S.; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A.; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J.; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J.; Caliskan, Yasar; Goldstein, David; Lifton, Richard P.; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G.
Nature Communications. 16(1)
Academic Journal
Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y.; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y.; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E.; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O.; Coughlin, Arielle C.; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S.; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B.; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K.; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K.; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S.; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A.; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J.; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J.; Caliskan, Yasar; Goldstein, David; Lifton, Richard P.; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G.
Nature Communications. 16(1)
Academic Journal
Kidney Int Rep
Kidney International Reports, Vol 10, Iss 3, Pp 673-695 (2025)
Kidney International Reports, Vol 10, Iss 3, Pp 673-695 (2025)
Academic Journal
Monica H. Wojcik; Gabrielle Lemire; Eva Berger; Maha S. Zaki; Mariel Wissmann; Wathone Win; Susan M. White; Ben Weisburd; Dagmar Wieczorek; Leigh B. Waddell; Jeffrey M. Verboon; Grace E. VanNoy; Ana Töpf; Tiong Yang Tan; Steffen Syrbe; Vincent Strehlow; Volker Straub; Sarah L. Stenton; Hana Snow; Moriel Singer-Berk; Josh Silver; Shirlee Shril; Eleanor G. Seaby; Ronen Schneider; Vijay G. Sankaran; Alba Sanchis-Juan; Kathryn A. Russell; Karit Reinson; Gianina Ravenscroft; Maximilian Radtke; Denny Popp; Tilman Polster; Konrad Platzer; Eric A. Pierce; Emily M. Place; Sander Pajusalu; Lynn Pais; Katrin Õunap; Ikeoluwa Osei-Owusu; Henry Opperman; Volkan Okur; Kaisa Teele Oja; Melanie O’Leary; Emily O’Heir; Chantal F. Morel; Andreas Merkenschlager; Rhett G. Marchant; Brian E. Mangilog; Jill A. Madden; Daniel MacArthur; Alysia Lovgren; Jordan P. Lerner-Ellis; Jasmine Lin; Nigel Laing; Friedhelm Hildebrandt; Julia Hentschel; Emily Groopman; Julia Goodrich; Joseph G. Gleeson; Roula Ghaoui; Casie A. Genetti; Janina Gburek-Augustat; Hanna T. Gazda; Vijay S. Ganesh; Mythily Ganapathi; Lyndon Gallacher; Jack M. Fu; Emily Evangelista; Eleina England; Sandra Donkervoort; Stephanie DiTroia; Sandra T. Cooper; Wendy K. Chung; John Christodoulou; Katherine R. Chao; Liam D. Cato; Kinga M. Bujakowska; Samantha J. Bryen; Harrison Brand; Carsten G. Bönnemann; Alan H. Beggs; Samantha M. Baxter; Tobias Bartolomaeus; Pankaj B. Agrawal; Michael Talkowski; Christina Austin-Tse; Rami Abou Jamra; Heidi L. Rehm; Anne O’Donnell-Luria
New England Journal of Medicine. 390:1985-1997
Report
Wojcik, Monica H.; Reuter, Chloe M.; Marwaha, Shruti; Mahmoud, Medhat; Duyzend, Michael H.; Barseghyan, Hayk; Yuan, Bo; Boone, Philip M.; Groopman, Emily E.; Délot, Emmanuèle C.; Jain, Deepti; Sanchis-Juan, Alba; Diseases, Genomics Research to Elucidate the Genetics of Rare; Consortium; Starita, Lea M.; Talkowski, Michael; Montgomery, Stephen B.; Bamshad, Michael J.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; O'Donnell-Luria, Anne; Sedlazeck, Fritz J.; Miller, Danny E.
Academic Journal
Gabrielle Lemire; Alba Sanchis-Juan; Kathryn Russell; Samantha Baxter; Katherine R. Chao; Moriel Singer-Berk; Emily Groopman; Isaac Wong; Eleina England; Julia Goodrich; Lynn Pais; Christina Austin-Tse; Stephanie DiTroia; Emily O’Heir; Vijay S. Ganesh; Monica H. Wojcik; Emily Evangelista; Hana Snow; Ikeoluwa Osei-Owusu; Jack Fu; Mugdha Singh; Yulia Mostovoy; Steve Huang; Kiran Garimella; Samantha L. Kirkham; Jennifer E. Neil; Diane D. Shao; Christopher A. Walsh; Emanuela Argili; Carolyn Le; Elliott H. Sherr; Joseph Gleeson; Shirlee Shril; Ronen Schneider; Friedhelm Hildebrandt; Vijay G. Sankaran; Jill A. Madden; Casie A. Genetti; Alan H. Beggs; Pankaj B. Agrawal; Kinga M. Bujakowska; Emily Place; Eric A. Pierce; Sandra Donkervoort; Carsten G. Bönnemann; Lyndon Gallacher; Zornitza Stark; Tiong Tan; Susan M. White; Ana Töpf; Volker Straub; Mark D. Fleming; Martin R. Pollak; Katrin Õunap; Sander Pajusalu; Kirsten A. Donald; Zandre Bruwer; Gianina Ravenscroft; Nigel G. Laing; Daniel G. MacArthur; Heidi L. Rehm; Michael E. Talkowski; Harrison Brand; Anne O’Donnell-Luria
medRxiv
American Journal of Human Genetics, vol 111, iss 5
American Journal of Human Genetics, vol 111, iss 5
Academic Journal
Abouhala, Siwaar ; Albert, Jessica ; Almalvez, Miguel ; Alvarez, Raquel ; Amin, Mutaz ; Anderson, Peter ; Aradhya, Swaroop ; Ashley, Euan ; Assimes, Themistocles ; Auriga, Light ; Austin-Tse, Christina ; Bamshad, Mike ; Barseghyan, Hayk ; Baxter, Samantha ; Behera, Sairam ; Beheshti, Shaghayegh ; Bejerano, Gill ; Berger, Seth ; Bernstein, Jon ; Best, Sabrina ; Blankenmeister, Benjamin ; Blue, Elizabeth ; Boerwinkle, Eric ; Bonkowski, Emily ; Bonner, Devon ; Boone, Philip ; Bornhorst, Miriam ; Brand, Harrison ; Buckingham, Kati ; Calame, Daniel ; Carter, Jennefer ; Casadei, Silvia ; Chadwick, Lisa ; Chavez, Clarisa ; Chen, Ziwei ; Chinn, Ivan ; Chong, Jessica ; Coban-Akdemir, Zeynep ; Cohen, Andrea J. ; Conner, Sarah ; Conomos, Matthew ; Coveler, Karen ; Cui, Ya Allen ; Currin, Sara ; Daber, Robert ; Dardas, Zain ; Davis, Colleen ; Dawood, Moez ; de Dios, Ivan ; de Esch, Celine ; Delaney, Meghan ; Delot, Emmanuele ; DiTroia, Stephanie ; Doddapaneni, Harsha ; Du, Haowei ; Duan, Ruizhi ; Dugan-Perez, Shannon ; Duong, Nhat ; Duyzend, Michael ; Eichler, Evan ; Emami, Sara ; Fraser, Jamie ; Fusaro, Vincent ; Galey, Miranda ; Ganesh, Vijay ; Garcia, Brandon ; Garimella, Kiran ; Gibbs, Richard ; Gifford, Casey ; Ginsburg, Amy ; Goddard, Page ; Gogarten, Stephanie ; Gogate, Nikhita ; Gordon, William ; Gorzynski, John E. ; Greenleaf, William ; Grochowski, Christopher ; Groopman, Emily ; Sousa, Rodrigo Guarischi ; Gudmundsson, Sanna ; Gulati, Ashima ; Hall, Stacey ; Harvey, William ; Hawley, Megan ; Heavner, Ben ; Horike-Pyne, Martha ; Hu, Jianhong ; Huang, Yongqing ; Hwang, James ; Jarvik, Gail ; Jensen, Tanner ; Jhangiani, Shalini ; Jimenez-Morales, David ; Jin, Christopher ; Saad, Ahmed K. ; Kahn-Kirby, Amanda ; Kain, Jessica ; Kaur, Parneet ; Keehan, Laura ; Knoblach, Susan ; Ko, Arthur ; Kundaje, Anshul ; Kundu, Soumya ; Lancaster, Samuel M. ; Larsson, Katie ; Lee, Arthur ; Lemire, Gabrielle ; Lewis, Richard ; Li, Wei ; Li, Yidan ; Liu, Pengfei ; LoTempio, Jonathan ; Lupski, James (Jim) ; Ma, Jialan ; MacArthur, Daniel ; Mahmoud, Medhat ; Malani, Nirav ; Mangilog, Brian ; Marafi, Dana ; Marmolejos, Sofia ; Marten, Daniel ; Martinez, Eva ; Marvin, Colby ; Marwaha, Shruti ; Mastrorosa, Francesco Kumara ; Matalon, Dena ; May, Susanne ; McGee, Sean ; Meador, Lauren ; Mefford, Heather ; Mendez, Hector Rodrigo ; Miller, Alexander ; Miller, Danny E. ; Mitani, Tadahiro ; Montgomery, Stephen ; Moyses, Mariana ; Munderloh, Chloe ; Muzny, Donna ; Nelson, Sarah ; Nguyen, Thuy-mi P. ; Nguyen, Jonathan ; Nussbaum, Robert ; Nykamp, Keith ; O'Callaghan, William ; O'Heir, Emily ; O'Leary, Melanie ; Olsen, Jeren ; Osei-Owusu, Ikeoluwa ; O'Donnell-Luria, Anne ; Padhi, Evin ; Pais, Lynn ; Pan, Miao ; Panchal, Piyush ; Patterson, Karynne ; Payne, Sheryl ; Pehlivan, Davut ; Petrowski, Paul ; Pham, Alicia ; Pitsava, Georgia ; Podesta, Astaria`Sara ; Ponce, Sarah ; Porter, Elizabeth ; Posey, Jennifer ; Prosser, Jaime ; Quertermous, Thomas ; Rai, Archana ; Ramani, Arun ; Rehm, Heidi ; Reuter, Chloe ; Reuter, Jason ; Richardson, Matthew ; Rivera-Munoz, Andres ; Rubio, Oriane ; Sabo, Aniko ; Salani, Monica ; Samocha, Kaitlin ; Sanchis-Juan, Alba ; Savage, Sarah ; Scott, Evette ; Scott, Stuart ; Sedlazeck, Fritz ; Shah, Gulalai ; Shojaie, Ali ; Singh, Mugdha ; Smith, Kevin ; Smith, Josh ; Snow, Hana ; Snyder, Michael ; Socarras, Kayla ; Starita, Lea ; Stark, Brigitte ; Stenton, Sarah ; Stergachis, Andrew ; Stilp, Adrienne ; Sutton, V. Reid ; Tai, Jui-Cheng ; Talkowski, Michael (Mike) ; Tise, Christina ; Tong, Catherine (Cat) ; Tsao, Philip ; Ungar, Rachel ; VanNoy, Grace ; Vilain, Eric ; Voutos, Isabella ; Walker, Kim ; Wei, Chia-Lin ; Weisburd, Ben ; Weiss, Jeff ; Wellington, Chris ; Weng, Ziming ; Westheimer, Emily ; Wheeler, Marsha ; Wheeler, Matthew ; Wiel, Laurens ; Wilson, Michael ; Wojcik, Monica ; Wong, Quenna ; Xiao, Changrui ; Yadav, Rachita ; Yi, Qian ; Yuan, Bo ; Zhao, Jianhua ; Zhen, Jimmy ; Zhou, Harry ; Chong, Jessica X. ; Berger, Seth I. ; Smith, Erica ; Calame, Daniel G. ; Hawley, Megan H. ; Rivera-Munoz, E. Andres ; Bamshad, Michael J. ; Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
Academic Journal
Stenton, Sarah L.; O’Leary, Melanie C.; Lemire, Gabrielle; VanNoy, Grace E.; DiTroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O’Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O’Donnell-Luria, Anne
Human Genomics. 18(1)
Academic Journal
Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko ; Grimes, Graeme ; Kao, Emeline M. ; Denhoff, Erica R. ; Blatnik, Ana ; Ben-Isvy, Daniel ; Wang, Lily ; Helm, Benjamin M. ; Firth, Helen ; Breman, Amy M. ; Bijlsma, Emilia K. ; Iwata-Otsubo, Aiko ; de Ravel, Thomy J.L. ; Fusaro, Vincent ; Fryer, Alan ; Nykamp, Keith ; Stühn, Lara G. ; Haack, Tobias B. ; Korenke, G. Christoph ; Constantinou, Panayiotis ; Bujakowska, Kinga M. ; Low, Karen J. ; Place, Emily ; Humberson, Jennifer ; Napier, Melanie P. ; Hoffman, Jessica ; Juusola, Jane ; Deardorff, Matthew A. ; Shao, Wanqing ; Rockowitz, Shira ; Krantz, Ian ; Kaur, Maninder ; Raible, Sarah ; Dortenzio, Victoria ; Kliesch, Sabine ; Singer-Berk, Moriel ; Groopman, Emily ; DiTroia, Stephanie ; Ballal, Sonia ; Srivastava, Siddharth ; Rothfelder, Kathrin ; Biskup, Saskia ; Rzasa, Jessica ; Kerkhof, Jennifer ; McConkey, Haley ; Sadikovic, Bekim ; Hilton, Sarah ; Banka, Siddharth ; Tüttelmann, Frank ; Conrad, Donald F. ; O’Donnell-Luria, Anne ; Talkowski, Michael E. ; FitzPatrick, David R. ; Boone, Philip M.
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Academic Journal
Byrne, Alicia; Spurdle, Amanda; Palculict, Blake; Coe, Bradley; Deqiong, Ma; Lyon, Elaine; Groopman, Emily; Qian, Emily; Puffenberger, Erik; Riggs, Erin; Couch, Fergus; Maston, Glenn; Dziadzio, Hannah; Harraway, James; Mester, Jessica; Garcia, John; Lerner-Ellis, Jordan; Benson, Katherine; Avello, Kayleigh; McGoldrick, Kelly; Conlin, Laura; Zec, Lauren; Steeves, Marcie; Richardson, Marcy; Lebo, Matt; Kelly, Melissa; Gollob, Michael; Luo, Minjie; Ganapathi, Mythily; Watkins, Nicholas; Niu, Nifang; Sergouniotis, Panagiotis; Bayrak-Toydemir, Pinar; Schmidt, Ryan; Schilit, Samantha; Richards, Sarah; Pesaran, Tina; Pollin, Toni; Jobanputra, Vaidehi; Zhang, Wenying; Chen, Wuyan; Fan, Yuxin; Schmidt, Ryan J. ; Benson, Katherine A. ; Coe, Bradley P. ; Conlin, Laura K. ; Gollob, Michael H. ; Ma, Deqiong ; Palculict, T. Blake ; Pollin, Toni I. ; Rehm, Heidi L. ; Riggs, Erin R. ; Schilit, Samantha L.P. ; Sergouniotis, Panagiotis I. ; Tvrdik, Tatiana ; Lebo, Matthew S.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Michael H. Guo; Laurent C. Francioli; Sarah L. Stenton; Julia K. Goodrich; Nicholas A. Watts; Moriel Singer-Berk; Emily Groopman; Philip W. Darnowsky; Matthew Solomonson; Samantha Baxter; Maria Abreu; Carlos A. Aguilar Salinas; Tariq Ahmad; Christine M. Albert; Jessica Alföldi; Diego Ardissino; Irina M. Armean; Gil Atzmon; Eric Banks; John Barnard; Samantha M. Baxter; Laurent Beaugerie; Emelia J. Benjamin; David Benjamin; Louis Bergelson; Michael Boehnke; Lori L. Bonnycastle; Erwin P. Bottinger; Donald W. Bowden; Matthew J. Bown; Steven Brant; Sarah E. Calvo; Hannia Campos; John C. Chambers; Juliana C. Chan; Katherine R. Chao; Sinéad Chapman; Daniel Chasman; Siwei Chen; Rex L. Chisholm; Judy Cho; Rajiv Chowdhury; Mina K. Chung; Wendy K. Chung; Kristian Cibulskis; Bruce Cohen; Ryan L. Collins; Kristen M. Connolly; Adolfo Correa; Miguel Covarrubias; Beryl Cummings; Dana Dabelea; John Danesh; Dawood Darbar; Joshua Denny; Stacey Donnelly; Ravindranath Duggirala; Josée Dupuis; Patrick T. Ellinor; Roberto Elosua; James Emery; Eleina England; Jeanette Erdmann; Tõnu Esko; Emily Evangelista; Yossi Farjoun; Diane Fatkin; Steven Ferriera; Jose Florez; Andre Franke; Martti Färkkilä; Stacey Gabriel; Kiran Garimella; Laura D. Gauthier; Jeff Gentry; Gad Getz; David C. Glahn; Benjamin Glaser; Stephen J. Glatt; David Goldstein; Clicerio Gonzalez; Leif Groop; Sanna Gudmundsson; Namrata Gupta; Andrea Haessly; Christopher Haiman; Ira Hall; Craig Hanis; Matthew Harms; Mikko Hiltunen; Matti M. Holi; Christina M. Hultman; Chaim Jalas; Thibault Jeandet; Mikko Kallela; Diane Kaplan; Jaakko Kaprio; Sekar Kathiresan; Eimear Kenny; Bong-Jo Kim; Young Jin Kim; George Kirov; Zan Koenig; Jaspal Kooner; Seppo Koskinen; Harlan M. Krumholz; Subra Kugathasan; Soo Heon Kwak; Markku Laakso; Nicole Lake; Trevyn Langsford; Kristen M. Laricchia; Terho Lehtimäki; Monkol Lek; Emily Lipscomb; Christopher Llanwarne; Ruth J. F. Loos; Steven A. Lubitz; Teresa Tusie Luna; Ronald C. W. Ma; Gregory M. Marcus; Jaume Marrugat; Alicia R. Martin; Kari M. Mattila; Steven McCarroll; Mark I. McCarthy; Jacob McCauley; Dermot McGovern; Ruth McPherson; James B. Meigs; Olle Melander; Andres Metspalu; Deborah Meyers; Eric V. Minikel; Braxton D. Mitchell; Vamsi K. Mootha; Ruchi Munshi; Aliya Naheed; Saman Nazarian; Peter M. Nilsson; Sam Novod; Anne H. O’Donnell-Luria; Michael C. O’Donovan; Yukinori Okada; Dost Ongur; Lorena Orozco; Michael J. Owen; Colin Palmer; Nicholette D. Palmer; Aarno Palotie; Kyong Soo Park; Carlos Pato; Nikelle Petrillo; William Phu; Timothy Poterba; Ann E. Pulver; Dan Rader; Nazneen Rahman; Alex Reiner; Anne M. Remes; Dan Rhodes; Stephen Rich; John D. Rioux; Samuli Ripatti; David Roazen; Dan M. Roden; Jerome I. Rotter; Valentin Ruano-Rubio; Nareh Sahakian; Danish Saleheen; Veikko Salomaa; Andrea Saltzman; Nilesh J. Samani; Jeremiah Scharf; Molly Schleicher; Heribert Schunkert; Sebastian Schönherr; Eleanor Seaby; Cotton Seed; Svati H. Shah; Megan Shand; Moore B. Shoemaker; Tai Shyong; Edwin K. Silverman; Pamela Sklar; J. Gustav Smith; Jonathan T. Smith; Hilkka Soininen; Harry Sokol; Rachel G. Son; Jose Soto; Tim Spector; Christine Stevens; Nathan Stitziel; Patrick F. Sullivan; Jaana Suvisaari; E. Shyong Tai; Michael E. Talkowski; Yekaterina Tarasova; Kent D. Taylor; Yik Ying Teo; Kathleen Tibbetts; Charlotte Tolonen; Ming Tsuang; Tiinamaija Tuomi; Dan Turner; Teresa Tusie-Luna; Erkki Vartiainen; Marquis Vawter; Christopher Vittal; Gordon Wade; Arcturus Wang; Qingbo Wang; James S. Ware; Hugh Watkins; Rinse K. Weersma; Ben Weisburd; Maija Wessman; Nicola Whiffin; Michael W. Wilson; James G. Wilson; Ramnik J. Xavier; Mary T. Yohannes; Grace Tiao; Benjamin M. Neale; Joel N. Hirschhorn; Heidi L. Rehm; Mark J. Daly; Anne O’Donnell-Luria; Konrad J. Karczewski; Daniel G. MacArthur; Kaitlin E. Samocha
bioRxiv
Academic Journal
Groopman, Emily ; Mohan, Shruthi ; Waddell, Amber ; Wilke, Matheus ; Fernandez, Raquel ; Weaver, Meredith ; Chen, Hongjie ; Liu, Hongbin ; Bali, Deeksha ; Baudet, Heather ; Clarke, Lorne ; Hung, Christina ; Mao, Rong ; Pinto e Vairo, Filippo ; Racacho, Lemuel ; Yuzyuk, Tatiana ; Craigen, William J. ; Goldstein, Jennifer
In Molecular Genetics and Metabolism November 2024 143(3)
Academic Journal
Goldstein, Jennifer ; Thomas-Wilson, Amanda ; Groopman, Emily ; Aggarwal, Vimla ; Bianconi, Simona ; Fernandez, Raquel ; Hart, Kim ; Longo, Nicola ; Liang, Nicole ; Reich, Daniel ; Wallis, Heidi ; Weaver, Meredith ; Young, Sarah ; Mercimek-Andrews, Saadet
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
Abarca-Barriga, Hugo; Al-Haddad, Christiane; Berman, Jeffrey L.; Bothun, Erick D.; Capasso, Jenina; Chacon-Camacho, Oscar Francisco; Chang, Lan; Christiansen, Stephen P.; Ciccarelli, Maria Laura; Cordonnier, Monique; Cox, Gerald F.; Curry, Cynthia J.; Dagi, Linda R.; Lee Dahm, Thomas; David, Karen L.; Davitt, Bradley V.; De Berardinis, Teresa; Demer, Joseph L.; Désir, Julie; D’Esposito, Fabiana; Drack, Arlene V.; Eggenberger, Eric; Elder, James E.; Elliott, Alexandra T.; Epley, K. David; Feldman, Hagit Baris; Ferreira, Carlos R.; Flaherty, Maree P.; Fulton, Anne B.; Gerth-Kahlert, Christina; Gottlob, Irene; Grill, Stephen; Halliday, Dorothy J.; Hanisch, Frank; Hay, Eleanor; Heidary, Gena; Holder, Christopher; Horton, Jonathan C.; Iannaccone, Alessandro; Isenberg, Sherwin J.; Johnston, Suzanne C.; Kahana, Alon; Katowitz, James A.; Kazlas, Melanie; Kerr, Natalie C.; Kimonis, Virginia; Ko, Melissa W.; Koc, Feray; Larsen, Dorte Ancher; Lay-Son, Guillermo; Ledoux, Danielle M.; Levin, Alex V.; Levy, Richard L.; Lyons, Christopher J.; Mackey, David A.; Magli, Adriano; Mantagos, Iason S.; Marti, Candice; Maystadt, Isabelle; McKenzie, Fiona; Menezes, Manoj P.; Mikail, Claudia N.; Miller, David T.; Miller, Kathryn Bisceglia; Mills, Monte D.; Miyana, Kaori; Moller, H.U.; Mullineaux, Lisa; Nishimura, Julie K.; Noble, A. Gwendolyn; Pandey, Pramod Kumar; Pavone, Piero; Penzien, Johann; Petersen, Robert; Phalen, James A.; Poduri, Annapurna; Polo, Claudia R.; Prasov, Lev; Ramos, Feliciano J.; Ramos-Caceres, Maria; Robb, Richard M.; Rossillion, Béatrice; Sahin, Mustafa; Singer, Harvey S.; Smith, Lois E.H.; Sorkin, Jeffrey A.; Soul, Janet S.; Staffieri, Sandra E.; Stalker, Heather J.; Stasheff, Steven F.; Strassberg, Sonya; Strominger, Mitchell B.; Taranath, Deepa Ajay; Thomas, Ioan Talfryn; Traboulsi, Elias I.; Ugrin, Maria Cristina; VanderVeen, Deborah K.; Vincent, Andrea L.; Vogel G, Marlene C.; Wabbels, Bettina; Wong, Agnes M.F.; Woods, C. Geoffrey; Wu, Carolyn; Yang, Edward; Yeung, Alison; Young, Terri L.; Zenteno, Juan C.; Zubcov-Iwantscheff, Alexandra A.; Zwaan, Johan; Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man ; MacKinnon, Sarah ; Whitman, Mary C. ; Matos Ruiz, Paola M. ; Pratt, Brandon M. ; England, Eleina M. ; Pais, Lynn ; Lemire, Gabrielle ; Groopman, Emily ; Glaze, Carmen ; Russell, Kathryn A. ; Singer-Berk, Moriel ; Di Gioia, Silvio Alessandro ; Lee, Arthur S. ; Andrews, Caroline ; Shaaban, Sherin ; Wirth, Megan M. ; Bekele, Sarah ; Toffoloni, Melissa ; Bradford, Victoria R. ; Foster, Emma E. ; Berube, Lindsay ; Rivera-Quiles, Cristina ; Mensching, Fiona M. ; Sanchis-Juan, Alba ; Fu, Jack M. ; Wong, Isaac ; Zhao, Xuefang ; Wilson, Michael W. ; Weisburd, Ben ; Lek, Monkol ; Brand, Harrison ; Talkowski, Michael E. ; MacArthur, Daniel G. ; O’Donnell-Luria, Anne ; Robson, Caroline D. ; Hunter, David G. ; Engle, Elizabeth C.
In Genetics in Medicine July 2024
Academic Journal
Austin-Tse, Christina; DiTroia, Stephanie; O'Leary, Melanie; VanNoy, Grace; Mangilog, Brian; Shah, Gulalai; Martinez, Eva; Serrano, Jillian; Pais, Lynn; O'Heir, Emily; Osei-Owusu, Ikeoluwa; Lemire, Gabrielle; Ganesh, Vijay; Stenton, Sarah; Amin, Mutaz; Socarras, Kayla; Singh, Mugdha; Hall, Stacey; Larsson, Katie; Singer-Berk, Moriel; Marten, Daniel; Wilson, Michael; Snow, Hana; Blankenmeister, Benjamin; Ma, Jialan; Weisburd, Ben; Sanchis-Juan, Alba; Brand, Harrison; Groopman, Emily; Lovgren, Alysia; Williamson, Clara; Hollyer, Marissa; England, Eleina; Seaby, Eleanor; Chao, Katherine; Goodrich, Julia; Baxter, Samantha; MacArthur, Daniel; Talkowski, Michael; Wojcik, Monica; O'Donnell-Luria, Anne; Rehm, Heidi
Genetics in Medicine Open. 2
Academic Journal
Simpson, Kara; Mew, Nicholas Ah; Caldovic, Ljubica; Feigenbaum, Annette; Fernandez, Raquel; Groopman, Emily; Gropman, Andrea; Kudalkar, Emily; Lichter-Konecki, Uta; Kyriss, McKenna; Spector, Elaine; Weaver, Meredith; Warrier, Manya; Zastrow, Diane; Thomas-Wilson, Amanda
Genetics in Medicine Open. 2
Academic Journal
Groopman, Emily; Goldstein, Jenny; Thomas-Wilson, Amanda; Reich, Daniel; Kyle, Emily; Aggarwal, Vimla; Preston, Christine; Hart, Kim; Si Yan Liang, Nicole; Young, Sarah; Bianconi, Simona; Longo, Nicola; Wallis, Heidi; Mercimek-Andrews, Saadet
Genetics in Medicine Open. 2
Academic Journal
Jennifer Goldstein; Amanda Balog; Deeksha Bali; Emily E.B. Reeves; Didem Demirbas; Raquel Fernandez; Florencia Giliberto; Emily Groopman; Christina Hung; Melanie Lacaria; Rong Mao; Shruthi Mohan; Dawn Peck; Laura Pollard; Catherine Rehder; Juliann Savatt; Ryan Schmidt; Pepper St. Clair; Filippo Vairo; Amy White; Tim Wood; Lorne A. Clarke
Molecular Genetics and Metabolism. 144:108739
Academic Journal
Morad Ansari; Kamli N. W. Faour; Akiko Shimamura; Graeme Grimes; Emeline M. Kao; Erica R. Denhoff; Ana Blatnik; Daniel Ben-Isvy; Lily Wang; Benjamin M. Helm; Helen Firth; Amy M. Breman; Emilia K. Bijlsma; Aiko Iwata-Otsubo; Thomy J.L. de Ravel; Vincent Fusaro; Alan Fryer; Keith Nykamp; Lara G. Stühn; Tobias B. Haack; G. Christoph Korenke; Panayiotis Constantinou; Kinga M. Bujakowska; Karen J. Low; Emily Place; Jennifer Humberson; Melanie P. Napier; Jessica Hoffman; Jane Juusola; Matthew A. Deardorff; Wanqing Shao; Shira Rockowitz; Ian Krantz; Maninder Kaur; Sarah Raible; Sabine Kliesch; Moriel Singer-Berk; Emily Groopman; Stephanie DiTroia; Sonia Ballal; Siddharth Srivastava; Kathrin Rothfelder; Saskia Biskup; Jessica Rzasa; Jennifer Kerkhof; Haley McConkey; Anne O’Donnell-Luria; Bekim Sadikovic; Sarah Hilton; Siddharth Banka; Frank Tüttelmann; Donald Conrad; Michael E. Talkowski; David R. FitzPatrick; Philip M. Boone
medRxiv
Ansari, M, Faour, K N W, Shimamura, A, Grimes, G, Kao, E M, Denhoff, E R, Blatnik, A, Ben-Isvy, D, Wang, L, Helm, B M, Firth, H, Breman, A M, Bijlsma, E K, Iwata-Otsubo, A, de Ravel, T J L, Fusaro, V, Fryer, A, Nykamp, K, Stühn, L G, Haack, T B, Christoph Korenke, G, Constantinou, P, Bujakowska, K M, Low, K J, Place, E, Humberson, J, Napier, M P, Hoffman, J, Juusola, J, Deardorff, M A, Shao, W, Rockowitz, S, Krantz, I, Kaur, M, Raible, S, Kliesch, S, Singer-Berk, M,Groopman , E, DiTroia, S, Ballal, S, Srivastava, S, Rothfelder, K, Biskup, S, Rzasa, J, Kerkhof, J, McConkey, H, O'Donnell-Luria, A, Sadikovic, B, Hilton, S, Banka, S, Tüttelmann, F, Conrad, D, Talkowski, M E, FitzPatrick, D R & Boone, P M 2023 'Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.' medRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/2023.09.27.23294269
Ansari, M, Faour, K N W, Shimamura, A, Grimes, G, Kao, E M, Denhoff, E R, Blatnik, A, Ben-Isvy, D, Wang, L, Helm, B M, Firth, H, Breman, A M, Bijlsma, E K, Iwata-Otsubo, A, de Ravel, T J L, Fusaro, V, Fryer, A, Nykamp, K, Stühn, L G, Haack, T B, Christoph Korenke, G, Constantinou, P, Bujakowska, K M, Low, K J, Place, E, Humberson, J, Napier, M P, Hoffman, J, Juusola, J, Deardorff, M A, Shao, W, Rockowitz, S, Krantz, I, Kaur, M, Raible, S, Kliesch, S, Singer-Berk, M,
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