부산대학교 도서관

Michael Duyzend; Malika Sud; Alissa M. D’Gama; Tabitha Poorvu; Judy Estroff; Monica H. Wojcik

Prenat Diagn

Cohen, Jennifer L. ; Duyzend, Michael ; Adelson, Sophia M. ; Yeo, Julie ; Fleming, Mark ; Ganetzky, Rebecca ; Hale, Rebecca ; Mitchell, Deborah M. ; Morton, Sarah U. ; Reimers, Rebecca ; Roberts, Amy ; Strong, Alanna ; Tan, Weizhen ; Thiagarajah, Jay R. ; Walker, Melissa A. ; Green, Robert C. ; Gold, Nina B.

In The American Journal of Human Genetics 5 June 2025 112(6):1251-1269

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.

Michael A Gargano; Nicolas Matentzoglu; Ben Coleman; Eunice B Addo-Lartey; Anna V Anagnostopoulos; Joel Anderton; Paul Avillach; Anita M Bagley; Eduard Bakštein; James P Balhoff; Gareth Baynam; Susan M Bello; Michael Berk; Holli Bertram; Somer Bishop; Hannah Blau; David F Bodenstein; Pablo Botas; Kaan Boztug; Jolana Čady; Tiffany J Callahan; Rhiannon Cameron; Seth J Carbon; Francisco Castellanos; J Harry Caufield; Lauren E Chan; Christopher G Chute; Jaime Cruz-Rojo; Noémi Dahan-Oliel; Jon R Davids; Maud de Dieuleveult; Vinicius de Souza; Bert B A de Vries; Esther de Vries; J Raymond DePaulo; Beata Derfalvi; Ferdinand Dhombres; Claudia Diaz-Byrd; Alexander J M Dingemans; Bruno Donadille; Michael Duyzend; Reem Elfeky; Shahim Essaid; Carolina Fabrizzi; Giovanna Fico; Helen V Firth; Yun Freudenberg-Hua; Janice M Fullerton; Davera L Gabriel; Kimberly Gilmour; Jessica Giordano; Fernando S Goes; Rachel Gore Moses; Ian Green; Matthias Griese; Tudor Groza; Weihong Gu; Julia Guthrie; Benjamin Gyori; Ada Hamosh; Marc Hanauer; Kateřina Hanušová; Yongqun (Oliver) He; Harshad Hegde; Ingo Helbig; Kateřina Holasová; Charles Tapley Hoyt; Shangzhi Huang; Eric Hurwitz; Julius O B Jacobsen; Xiaofeng Jiang; Lisa Joseph; Kamyar Keramatian; Bryan King; Katrin Knoflach; David A Koolen; Megan L Kraus; Carlo Kroll; Maaike Kusters; Markus S Ladewig; David Lagorce; Meng-Chuan Lai; Pablo Lapunzina; Bryan Laraway; David Lewis-Smith; Xiarong Li; Caterina Lucano; Marzieh Majd; Mary L Marazita; Victor Martinez-Glez; Toby H McHenry; Melvin G McInnis; Julie A McMurry; Michaela Mihulová; Caitlin E Millett; Philip B Mitchell; Veronika Moslerová; Kenji Narutomi; Shahrzad Nematollahi; Julian Nevado; Andrew A Nierenberg; Nikola Novák Čajbiková; John I Nurnberger; Soichi Ogishima; Daniel Olson; Abigail Ortiz; Harry Pachajoa; Guiomar Perez de Nanclares; Amy Peters; Tim Putman; Christina K Rapp; Ana Rath; Justin Reese; Lauren Rekerle; Angharad M Roberts; Suzy Roy; Stephan J Sanders; Catharina Schuetz; Eva C Schulte; Thomas G Schulze; Martin Schwarz; Katie Scott; Dominik Seelow; Berthold Seitz; Yiping Shen; Morgan N Similuk; Eric S Simon; Balwinder Singh; Damian Smedley; Cynthia L Smith; Jake T Smolinsky; Sarah Sperry; Elizabeth Stafford; Ray Stefancsik; Robin Steinhaus; Rebecca Strawbridge; Jagadish Chandrabose Sundaramurthi; Polina Talapova; Jair A Tenorio Castano; Pavel Tesner; Rhys H Thomas; Audrey Thurm; Marek Turnovec; Marielle E van Gijn; Nicole A Vasilevsky; Markéta Vlčková; Anita Walden; Kai Wang; Ron Wapner; James S Ware; Addo A Wiafe; Samuel A Wiafe; Lisa D Wiggins; Andrew E Williams; Chen Wu; Margot J Wyrwoll; Hui Xiong; Nefize Yalin; Yasunori Yamamoto; Lakshmi N Yatham; Anastasia K Yocum; Allan H Young; Zafer Yüksel; Peter P Zandi; Andreas Zankl; Ignacio Zarante; Miroslav Zvolský; Sabrina Toro; Leigh C Carmody; Nomi L Harris; Monica C Munoz-Torres; Daniel Danis; Christopher J Mungall; Sebastian Köhler; Melissa A Haendel; Peter N Robinson

Nucleic Acids Res
D1346
D1333
Nucleic Acids Research, 52, D1, pp. D1333-d1346
Nucleic Acids Research, vol 52, iss D1
Nucleic Acids Research

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S. L.; Bily, Viktor; Caballero-Oteyza, Andres; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X.; Connelly, Evan; de Vries, Bert B. A.; Dingemans, Alexander J. M.; Duyzend, Michael H.; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Ladewig, Markus S.; Love, Michael I.; Marcello, Allison J.; Mordhorst, Alexander; Munoz-Torres, Monica C.; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N.

AMERICAN JOURNAL OF HUMAN GENETICS; JAN 8 2026, 113 1, pPMID 370475 15p.

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)

Adams S; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Trocki OM; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Miller C; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Studwell C; Center for Advanced Molecular Diagnostics, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Bombalicki M; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Dobson L; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Horan S; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Sargent J; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Duyzend M; Division of Genetics and Genomics and Maternal Fetal Care Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Gray KJ; Department of Obstetrics and Gynecology, University of Washington, Seattle, WA, United States.; Guseh S; Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.; Wilkins-Haug L; Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

Duyzend, Michael; Sud, Malika; D'Gama, Alissa M.; Poorvu, Tabitha; Estroff, Judy; Wojcik, Monica H.

Prenatal Diagnosis (PRENATAL DIAGN), Sep2025; 45(10): 1292-1312. (21p)

Caitlin M. Hudac; Joanna Bove; Shelley Barber; Michael Duyzend; Ari Wallace; Christa Lese Martin; David H. Ledbetter; Ellen Hanson; Robin P. Goin‐Kochel; LeeAnne Green‐Snyder; Wendy K. Chung; Evan E. Eichler; Raphael A. Bernier

Autism Research. 13:1300-1310

Turner, Tychele N. ; Hormozdiari, Fereydoun ; Duyzend, Michael H. ; McClymont, Sarah A. ; Hook, Paul W. ; Iossifov, Ivan ; Raja, Archana ; Baker, Carl ; Hoekzema, Kendra ; Stessman, Holly A. ; Zody, Michael C. ; Nelson, Bradley J. ; Huddleston, John ; Sandstrom, Richard ; Smith, Joshua D. ; Hanna, David ; Swanson, James M. ; Faustman, Elaine M. ; Bamshad, Michael J. ; Stamatoyannopoulos, John ; Nickerson, Deborah A. ; McCallion, Andrew S. ; Darnell, Robert ; Eichler, Evan E.

In The American Journal of Human Genetics 7 January 2016 98(1):58-74

Arianne S. Wallace; Caitlin M. Hudac; Kyle J. Steinman; Jessica L. Peterson; Trent D. DesChamps; Michael H. Duyzend; Xander Nuttle; Evan E. Eichler; Raphael A. Bernier

Clin Case Rep

Michael H, Duyzend; Christopher T, Clark; Shayna L, Simmons; Wade B, Johnson; Anna M, Larson; Aaron M, Leconte; Andrew W, Wills; Matthew, Ginder-Vogel; April K, Wilhelm; Josephine A, Czechowicz; David G, Alberg

Journal of Enzyme Inhibition and Medicinal Chemistry. 27:784-794

Nuttle, Xander; Giannuzzi, Giuliana; Duyzend, Michael H.; Schraiber, Joshua G.; Narvaiza, Inigo; Sudmant, Peter H.; Penn, Osnat; Chiatante, Giorgia; Malig, Maika; Huddleston, John; Benner, Chris; Camponeschi, Francesca; Ciofi-Baffoni, Simone; Stessman, Holly A.F.; Marchetto, Maria C.N.; Denman, Laura; Harshman, Lana; Baker, Carl; Raja, Archana; Penewit, Kelsi; Janke, Nicolette; Tang, W. Joyce; Ventura, Mario; Banci, Lucia; Antonacci, Francesca; Akey, Joshua M.; Amemiya, Chris T.; Gage, Fred H.; Reymond, Alexandre; Eichler, Evan E.

Nature. August 11, 2016, p205, 24 p.

O'Meara D; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Duyzend M; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Harper B; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Silverstein J; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-2707 (Electronic) Linking ISSN: 00099228 NLM ISO Abbreviation: Clin Pediatr (Phila) Subsets: MEDLINE

Cacheiro P; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.; Lawson S; ITS Research, Queen Mary University of London, London, United Kingdom.; Van den Veyver IB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX.; Marengo G; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.; Zocche D; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, London, United Kingdom.; Murray SA; The Jackson Laboratory, Bar Harbor, ME.; Duyzend M; Massachusetts General Hospital, Boston, MA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Robinson PN; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Smedley D; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom. Electronic address: d.smedley@qmul.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Brand H; Massachusetts General Hospital, Boston, MA.; Whelan CW; Broad Institute of MIT and Harvard, Cambridge, MA.; Duyzend M; Massachusetts General Hospital, Boston, MA.; Lemanski J; Massachusetts General Hospital, Boston, MA.; Salani M; Massachusetts General Hospital, Boston, MA.; Hao SP; Massachusetts General Hospital, Boston, MA.; Wong I; Massachusetts General Hospital, Boston, MA.; Valkanas E; Massachusetts General Hospital, Boston, MA.; Cusick C; Broad Institute of MIT and Harvard, Cambridge, MA.; Genetti C; Boston Children's Hospital, Boston, MA.; Dobson L; Brigham and Women's Hospital, Boston, MA.; Studwell C; Brigham and Women's Hospital, Boston, MA.; Gianforcaro K; Brigham and Women's Hospital, Boston, MA.; Wilkins-Haug L; Brigham and Women's Hospital, Boston, MA.; Guseh S; Brigham and Women's Hospital, Boston, MA.; Currall B; Massachusetts General Hospital, Boston, MA.; Gray K; Brigham and Women's Hospital, Boston, MA.; Talkowski ME; Massachusetts General Hospital, Boston, MA mtalkowski@mgh.harvard.edu.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Lozano R; MIND Institute, UC Davis Medical Center, Sacramento, 2825 50th Street, California, CA 95817, USA ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA.; Hagerman RJ; MIND Institute, UC Davis Medical Center, Sacramento, 2825 50th Street, California, CA 95817, USA ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA.; Duyzend M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Budimirovic DB; Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA ; Howard Hughes Medical Institute, Seattle, WA, USA.; Tassone F; MIND Institute, UC Davis Medical Center, Sacramento, 2825 50th Street, California, CA 95817, USA ; Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, Sacramento, CA, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1866-1947 (Print) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: PubMed not MEDLINE

Dhombres F; Sorbonne University, GRC26, INSERM, Limics, Armand Trousseau Hospital, Fetal Medicine Department, APHP, Paris, France.; Morgan P; American College of Medical Genetics and Genomics, Newborn Screening Translational Research Network, Bethesda, Maryland, USA.; Chaudhari BP; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Filges I; University Hospital Basel and University of Basel, Medical Genetics, Basel, Switzerland.; Sparks TN; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, San Francisco, California, USA.; Lapunzina P; CIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics, Madrid, Spain.; Roscioli T; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, New South Wales, Australia.; Agarwal U; Department of Maternal and Fetal Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.; Beneteau C; Service de Génétique Médicale, UF 9321 de Fœtopathologie et Génétique, CHU de Nantes, Nantes, France.; Cacheiro P; William Harvey Research Institute, Queen Mary University of London, London, UK.; Carmody LC; Department of Genomic Medicine, The Jackson Laboratory, Farmington, Connecticut, USA.; Collardeau-Frachon S; Department of Pathology, University Hospital of Lyon and Soffoet, Lyon, France.; Dempsey EA; St George's University of London, Molecular and Clinical Sciences Research Institute, London, UK.; Dufke A; University of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.; Duyzend MH; Department of Pediatrics, Boston Children's Hospital, Boston/Cambridge, Massachusetts, USA.; El Ghosh M; Sorbonne University, INSERM, LIMICS, Paris, France.; Giordano JL; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.; Glad R; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.; Grinfelde I; Department of Medical Genetics and Prenatal diagnosis, Children's University Hospital, Riga, Latvia.; Iliescu DG; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy Craiova, Craiova, Dolj, Romania.; Ladewig MS; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Saarland, Germany.; Munoz-Torres MC; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Pollazzon M; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, Reggio Emilia, Italy.; Radio FC; Genetics and Rare Diseases Research Division, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Rodo C; Vall d'Hebron Hospital Campus, Maternal & Fetal Medicine, Barcelona, Spain.; Silva RG; Hospital Santa Maria, Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisboa, Portugal.; Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Sundaramurthi JC; Department of Genomic Medicine, The Jackson Laboratory, Farmington, Connecticut, USA.; Toro S; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Valenzuela I; Hospital Vall d'Hebron, Clinical and Molecular Genetics Area, Barcelona, Spain.; Vasilevsky NA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Wapner RJ; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.; Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Haendel MA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Robinson PN; Department of Genomic Medicine, The Jackson Laboratory, Farmington, Connecticut, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Wojcik MH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Reuter CM; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305 USA.; Marwaha S; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305 USA.; Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030 USA.; Duyzend MH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114 USA.; Barseghyan H; Center for Genetics Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC 20010 USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037 USA.; Yuan B; Department of Molecular and Human Genetics and Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030 USA.; Boone PM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114 USA.; Groopman EE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114 USA.; Délot EC; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037 USA.; Center for Genetics Medicine Research, Children's National Research and Innovation Campus, Washington, DC, USA.; Department of Pediatrics, George Washington University, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037 USA.; Jain D; Department of Biostatistics, School of Public Health, University of Washington, Seattle WA 98195 USA.; Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114 USA.; Starita LM; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195 USA.; Department of Genome Sciences, University of Washington, Seattle, WA, 98195 USA.; Talkowski M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114 USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA.; Montgomery SB; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305 USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 USA.; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305 USA.; Bamshad MJ; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195 USA.; Department of Genome Sciences, University of Washington, Seattle, WA, 98195 USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195 USA.; Chong JX; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195 USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195 USA.; Wheeler MT; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305 USA.; Berger SI; Center for Genetics Medicine Research and Rare Disease Institute, Children's National Hospital, Washington, DC 20010 USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Center for Genomic Medicine, Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.; Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030 USA.; Department of Computer Science, Rice University, 6100 Main Street, Houston, TX, 77005 USA.; Miller DE; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195 USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195 USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195 USA.

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