학술논문
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'학술논문'
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Dawood, Moez; Heavner, Ben; Wheeler, Marsha M.; Ungar, Rachel A.; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A.; Chong, Jessica X.; Délot, Emmanuèle C.; Eichler, Evan E.; Gibbs, Richard A.; Lupski, James R.; Shojaie, Ali; Talkowski, Michael E.; Wagner, Alex H.; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T.; Members, GREGoR Partner; Carvalho, Claudia M. B.; Gifford, Casey A.; May, Susanne; Miller, Danny E.; Rehm, Heidi L.; Sedlazeck, Fritz J.; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E.; Chadwick, Lisa H.; Bamshad, Michael J.; Montgomery, Stephen B.; Diseases, Genomics Research to Elucidate the Genetics of Rare; Consortium
Academic Journal
Apoorva K. Iyengar; Xue Zou; Jian Dai; Rhodricia A. Francis; Alexias Safi; Karynne Patterson; Rebecca L. Koch; Shannon Clarke; M. Makenzie Beaman; Shruthi Mohan; Jessica X. Chong; Michael J. Bamshad; William H. Majoros; R. Catherine Rehder; Deeksha S. Bali; Andrew S. Allen; Gregory E. Crawford; Priya S. Kishnani; Timothy E. Reddy
Genetics in Medicine Open, Vol 4, Iss , Pp 103474- (2026)
Academic Journal
Morimoto, M.; Ryu, E.; Steger, B. J.; Dixit, A.; Saito, Y.; Yoo, J.; van der Ven, A. T.; Hauser, N.; Steinbach, P. J.; Oura, K.; Huang, A. Y.; Kortüm, F.; Ninomiya, S.; Rosenthal, E. A.; Robinson, H. K.; Guegan, K.; Denecke, J.; Subramony, S. H.; Diamonstein, C. J.; Ping, J.; Fenner, M.; Balton, E. V.; Strohbehn, S.; Allworth, A.; Bamshad, M. J.; Gandhi, M.; Dipple, K. M.; Blue, E. E.; Jarvik, G. P.; Lau, C. C.; Holm, I. A.; Weisz-Hubshman, M.; Solomon, B. D.; Nelson, S. F.; Nishino, I.; Adams, D. R.; Kang, S.; Gahl, W. A.; Toro, C.; Myung, K.; Malicdan, M. C. V.
American Journal of Human Genetics, vol 111, iss 9
Academic Journal
David R. Murdock; Dong-chuan Guo; John S. DePaolo; Ulrike Schwarze; Xue-yan Duan; Alana C. Cecchi; Isabella C. Marin; YingYing Tang; Jessica X. Chong; Michael J. Bamshad; Kathleen A. Leppig; Peter H. Byers; Scott M. Damrauer; Dianna M. Milewicz
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-9 (2025)
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
Takayasu Mori; Takuya Fujimaru; Chunyu Liu; Karynne Patterson; Kouhei Yamamoto; Takefumi Suzuki; Motoko Chiga; Akinari Sekine; Yoshifumi Ubara; Danny E. Miller; Miranda P.G. Zalusky; Shintaro Mandai; Fumiaki Ando; Yutaro Mori; Hiroaki Kikuchi; Koichiro Susa; Jessica X. Chong; Michael J. Bamshad; Yue-Qiu Tan; Feng Zhang; Shinichi Uchida; Eisei Sohara; Chia-Lin Wei; Evan E. Eichler; Kailyn Anderson; Peter Anderson; Tamara J. Bacus; Sabrina Best; Elizabeth E. Blue; Katherine Brower; Kati J. Buckingham; Brianne Carroll; Silvia Casadei; Nikhita Damaraju; Colleen P. Davis; Christian D. Frazar; Sophia Gibson; Joy Goffena; William W. Gordon; Jonas A. Gustafson; William T. Harvey; Martha Horike-Pyne; Jameson R. Hurless; Caitlin Jacques; Gail P. Jarvik; Eric Johanson; J. Thomas Kolar; Xiaomeng Liu; Colby T. Marvin; Sean McGee; Holli Meyers; Patrick M. Nielsen; Aparna Radhakrishnan; Matthew A. Richardson; Erica L. Ryke; Aliya Sarkytbayeva; Tristan Shaffer; Kathryn M. Shively; Olivia M. Sommers; Sophie H.R. Storz; Joshua D. Smith; Lea M. Starita; Monica Tackettl; Sydney A. Ward; Jeffrey M. Weiss; Qian Yi; Heather Mefford
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Academic Journal
Davi, C.; Pastor, A.; Oliveira, T.; Neto, F.B.d.L.; Braga-Neto, U.; Bigham, A.W.; Bamshad, M.; Marques, E.T.A.; Acioli-Santos, B.
IEEE Transactions on Biomedical Engineering IEEE Trans. Biomed. Eng. Biomedical Engineering, IEEE Transactions on. 66(10):2861-2868 Oct, 2019
Academic Journal
Elizabeth A. Werren; Emily R. Peirent; Henna Jantti; Alba Guxholli; Kinshuk Raj Srivastava; Naama Orenstein; Vinodh Narayanan; Wojciech Wiszniewski; Mateusz Dawidziuk; Pawel Gawlinski; Muhammad Umair; Amjad Khan; Shahid Niaz Khan; David Geneviève; Daphné Lehalle; K. L. I. van Gassen; Jacques C. Giltay; Renske Oegema; Richard H. van Jaarsveld; Rafiullah Rafiullah; Gudrun A. Rappold; Rachel Rabin; John G. Pappas; Marsha M. Wheeler; Michael J. Bamshad; Yao-Chang Tsan; Matthew B. Johnson; Catherine E. Keegan; Anshika Srivastava; Stephanie L. Bielas
Cell Death and Disease, Vol 15, Iss 5, Pp 1-15 (2024)
Academic Journal
Alevtina Gall; Marita Bosticardo; Stacey Ma; Karin Chen; Kayla Amini; Francesca Pala; Ottavia M. Delmonte; Tara Wenger; Michael Bamshad; John Sleasman; Matthew Blessing; Nicolai S. C. van Oers; Luigi D. Notarangelo; M. Teresa de la Morena
Frontiers in Immunology, Vol 15 (2024)
Academic Journal
Al-Jawahiri, R; Foroutan, A; Kerkhof, J; McConkey, H; Levy, M; Haghshenas, S; Rooney, K; Turner, J; Shears, D; Holder, M; Lefroy, H; Castle, B; Reis, LM; Semina, EV; Lachlan, K; Chandler, K; Wright, T; Clayton-Smith, J; Hug, FP; Pitteloud, N; Bartoloni, L; Hoffjan, S; Park, S-M; Thankamony, A; Lees, M; Wakeling, E; Naik, S; Hanker, B; Girisha, KM; Agolini, E; Giuseppe, Z; Alban, Z; Tessarech, M; Keren, B; Afenjar, A; Zweier, C; Reis, A; Smol, T; Tsurusaki, Y; Nobuhiko, O; Sekiguchi, F; Tsuchida, N; Matsumoto, N; Kou, I; Yonezawa, Y; Ikegawa, S; Callewaert, B; Freeth, M; Kleinendorst, L; Donaldson, A; Alders, M; De Paepe, A; Sadikovic, B; McNeill, A; Nickerson, D; Bamshad, M; Leal, S; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Elgar, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, JF; FionaMaleady-Crowe; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O’Donovan, P; Odhams, CA; Patch, C; Pereira, MB; Perez-Gil, D; Pullinger, J; TahrimaRahim; Rendon, A; TimRogers; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM
GENETICS IN MEDICINE
Academic Journal
Keefe AC; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Scott AA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Kruidenier L; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Conta J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Sternen D; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Clowes Candadai S; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Stasi SM; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Parish-Morris J; Department of Biomedical and Health Informatics, University of Pennsylvania, Philadelphia, PA.; Sikes M; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Adam MP; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Beck AE; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Hayek JC; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Glass I; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Bennett JT; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Mirzaa G; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Kruszka P; GeneDx, LLC, Gaithersburg, MD.; McWalter K; GeneDx, LLC, Gaithersburg, MD.; Copenheaver D; GeneDx, LLC, Gaithersburg, MD.; Friedman B; GeneDx, LLC, Gaithersburg, MD.; Bamshad M; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Dipple KM; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Wenger TL; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA. Electronic address: Tara.wenger@seattlechildrens.org.
Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE
Academic Journal
Jonai Pujol‐Giménez; Ghayda Mirzaa; Elizabeth E. Blue; Giuseppe Albano; Danny E. Miller; Aimee Allworth; James T. Bennett; Peter H. Byers; Sirisak Chanprasert; Jingheng Chen; Daniel Doherty; Andrew B. Folta; Madelyn A. Gillentine; Ian Glass; Anne Hing; Martha Horike‐Pyne; Kathleen A. Leppig; Azma Parhin; Jane Ranchalis; Wendy H. Raskind; Elisabeth A. Rosenthal; Ulrike Schwarze; Sam Sheppeard; Samuel Strohbehn; Virginia P. Sybert; Andrew Timms; Mark Wener; University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN); Michael J. Bamshad; Fuki M. Hisama; Gail P. Jarvik; Katrina M. Dipple; Matthias A. Hediger; Andrew B. Stergachis
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1046-1053 (2023)
Academic Journal
Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana SA; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran B; Karimiani, Ehsan G; Maroofian, Reza; Schaefer, Gerald B; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Acosta, MT; Adam, M; Adams, DR; Alvarez, RL; Alvey, J; Amendola, L; Andrews, A; Ashley, EA; Bacino, CA; Bademci, G; Balasubramanyam, A; Baldridge, D; Bale, J; Bamshad, M; Barbouth, D; Bayrak-Toydemir, P; Beck, A; Beggs, AH; Behrens, E; Bejerano, G; Bellen, HJ; Bennett, J; Berg-Rood, B; Bernstein, JA; Berry, GT; Bican, A; Bivona, S; Blue, E; Bohnsack, J; Bonner, D; Botto, L; Boyd, B; Briere, LC; Brown, G; Burke, EA; Burrage, LC; Butte, MJ; Byers, P; Byrd, WE; Carey, J; Carrasquillo, O; Cassini, T; Chang, TCP; Chanprasert, S; Undiagnosed Diseases Network, .
Academic Journal
Bamshad M; Department of Biological Sciences, Lehman College, CUNY, Bronx, NY, United States.; Xie K; Department of Biological Sciences, Lehman College, CUNY, Bronx, NY, United States.; Rasheed R; Department of Biological Sciences, Lehman College, CUNY, Bronx, NY, United States.; Holt K; Department of Biological Sciences, Lehman College, CUNY, Bronx, NY, United States.; Assabil-Bentum G; Department of Biological Sciences, Lehman College, CUNY, Bronx, NY, United States.; Aoki NB; Department of Linguistics, University of California Davis, Davis, CA, United States.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101550902 Publication Model: eCollection Cited Medium: Print ISSN: 1664-1078 (Print) Linking ISSN: 16641078 NLM ISO Abbreviation: Front Psychol Subsets: PubMed not MEDLINE
Academic Journal
Kumble, S; Levy, AM; Punetha, J; Gao, H; Ah Mew, N; Anyane-Yeboa, K; Benke, PJ; Berger, SM; Bjerglund, L; Campos-Xavier, B; Ciliberto, M; Cohen, JS; Comi, AM; Curry, C; Damaj, L; Denommé-Pichon, AS; Emrick, L; Faivre, L; Fasano, MB; Fiévet, A; Finkel, RS; García-Miñaúr, S; Gerard, A; Gomez-Puertas, P; Guillen Sacoto, MJ; Hoffman, TL; Howard, L; Iglesias, AD; Izumi, K; Larson, A; Leiber, A; Lozano, R; Marcos-Alcalde, I; Mintz, CS; Mullegama, SV; Møller, RS; Odent, S; Oppermann, H; Ostergaard, E; Pacio-Míguez, M; Palomares-Bralo, M; Parikh, S; Paulson, AM; Platzer, K; Posey, JE; Potocki, L; Revah-Politi, A; Rio, M; Ritter, AL; Robinson, S; Rosenfeld, JA; Santos-Simarro, F; Sousa, SB; Wéber, M; Xie, Y; Chung, WK; Brown, NJ; Tümer, Z; Acosta, MT; Adam, M; Adams, DR; Agrawal, PB; Alejandro, ME; Alvey, J; Amendola, L; Andrews, A; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Bale, J; Bamshad, M; Barbouth, D; Bayrak-Toydemir, P; Beck, A; Beggs, AH; Behrens, E; Bejerano, G; Bennet, J; Berg-Rood, B; Bernstein, JA; Berry, GT; Bican, A; Bivona, S; Blue, E; Bohnsack, J; Bonnenmann, C; Bonner, D; Botto, L; Boyd, B; Briere, LC; Brokamp, E; Brown, G; Burke, EA; Burrage, LC; Butte, MJ; Byers, P
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
instname
Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Universidad Francisco de Vitoria
instname
Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Academic Journal
Elizabeth E. Blue; Samuel J. Huang; Alyna Khan; Katie Golden-Grant; Brenna Boyd; Elisabeth A. Rosenthal; Madelyn A. Gillentine; Leah R. Fleming; David R. Adams; Lynne Wolfe; Aimee Allworth; Michael J. Bamshad; Nikeisha J. Caruana; Sirisak Chanprasert; Jingheng Chen; Nitsuh Dargie; Daniel Doherty; Marisa W. Friederich; Fuki M. Hisama; Martha Horike-Pyne; Jessica C. Lee; Tonia E. Donovan; Daniella H. Hock; Kathleen A. Leppig; Danny E. Miller; Ghayda Mirzaa; Jane Ranchalis; Wendy H. Raskind; Cole R. Michel; Richard Reisdorph; Ulrike Schwarze; Sam Sheppeard; Samuel Strohbehn; David A. Stroud; Virginia P. Sybert; Mark H. Wener; Andrew B. Stergachis; Christina T. Lam; Gail P. Jarvik; Katrina M. Dipple; Johan L.K. Van Hove; Ian A. Glass
Rare, Vol 2, Iss , Pp 100040- (2024)
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Elizabeth E. Blue; Janson J. White; Michael K. Dush; William W. Gordon; Brent H. Wyatt; Peter White; Colby T. Marvin; Emmi Helle; Tiina Ojala; James R. Priest; Mary M. Jenkins; Lynn M. Almli; Jennita Reefhuis; Faith Pangilinan; Lawrence C. Brody; Kim L. McBride; Vidu Garg; Gary M. Shaw; Paul A. Romitti; Wendy N. Nembhard; Marilyn L. Browne; Martha M. Werler; Denise M. Kay; Seema Mital; Jessica X. Chong; Nanette M. Nascone-Yoder; Michael J. Bamshad
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
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Miranda P.G. Zalusky; Jonas A. Gustafson; Stephanie C. Bohaczuk; Ben Mallory; Paxton Reed; Tara Wenger; Erika Beckman; Irene J. Chang; Cate R. Paschal; Jillian G. Buchan; Christina M. Lockwood; Mihai Puia-Dumitrescu; Daniel R. Garalde; Joseph Guillory; Androo J. Markham; Michael J. Bamshad; Evan E. Eichler; Andrew B. Stergachis; Danny E. Miller
Genetics in Medicine Open, Vol 2, Iss , Pp 101833- (2024)
Academic Journal
Ifekwunigwe, Jayne O.; Wagner, Jennifer K.; Yu, Joon-Ho; Harrell, Tanya M.; Bamshad, Michael J.; Royal, Charmaine D.
American Anthropologist, 2017 Sep 01. 119(3), 422-434.
Academic Journal
Hirsch, S. D.; Elling, C. L.; Bootpetch, T. C.; Scholes, M. A.; Hafrén, L.; Streubel, S. -O; Pine, H. S.; Wine, T. M.; Szeremeta, W.; Prager, J. D.; Einarsdottir, Elisabet; Yousaf, A.; Baschal, E. E.; Rehman, S.; Bamshad, M. J.; Nickerson, D. A.; Riazuddin, S.; Leal, S. M.; Ahmed, Z. M.; Yoon, P. J.; Kere, J.; Chan, K. H.; Mattila, P. S.; Friedman, N. R.; Chonmaitree, T.; Frank, D. N.; Ryan, A. F.; Santos-Cortez, R. L. P.
Journal of Molecular Medicine. 99(11):1571-1583
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