부산대학교 도서관

Moyses-Oliveira, Mariana ; Yadav, Rachita ; Erdin, Serkan ; Talkowski, Michael E

In Current Opinion in Genetics & Development December 2020 65:195-206

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Mobile DNA. November 6, 2025, Vol. 16 Issue 1

Erfanian Omidvar, Maryam; Murrell, Jill R; Prentice, Anna J; Helbig, Ingo; Lerche, Holger; May, Patrick; null, null; Chen, Siwei; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Andrade, Danielle M; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Buono, Russell J; Busch, Robyn M; Canafoglia, Laura; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chou, I-Jun; Chung, Seo-Kyung; Cole, Andrew J; Cossette, Patrick; Cotsapas, Chris; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J; Doccini, Viola; Ellis, Colin; Epstein, Leon; Evans, Meghan; Faucon, Annika; Ferguson, Lisa; Ferraro, Thomas N; Feucht, Martha; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A; Freri, Elena; Gagliardi, Monica; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Guerrini, Renzo; Haas, Kevin; Heinzen, Erin L; Heyne, Henrike; Hoeper, Olivia; Inuzuka, Luciana Midori; Jehi, Lara; Kälviäinen, Reetta; Kariuki, Symon M; Khoury, Jean; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Kurlemann, Gerhard; Labate, Angelo; Lacey, Austin; Lawthom, Charlotte; Leech, Stephanie L; Lemke, Johannes R; Lesca, Gaetan; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Licchetta, Laura; Lowenstein, Daniel H; Madia, Francesca; Magri, Stefania; McGraw, Christopher M; Mei, Davide; Millichap, John J; Minardi, Raffaella; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Nasreddine, Wassim; Neubauer, Bernd A; Newton, Charles R J C; O'Brien, Terence J; Özkara, Çiğdem; Papacostas, Savvas S; Parrini, Elena; Pendziwiat, Manuela; Pickrell, William O; Pinto, Dalila; Poduri, Annapurna; Ragona, Francesca; Rees, Mark I; Rheims, Sylvain; Riva, Antonella; Rojas, Enrique; Sammarra, Ilaria; Schankin, Christoph J; Scheffer, Ingrid E; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R; Sisodiya, Sanjay M; Sparks, Kathryn R; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Tanteles, George A; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Utkus, Algirdas; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Wagner, Ryan G; Weber, Yvonne G; Weckhuysen, Sarah; Wiebe, Samuel; Wolking, Stefan; von Wrede, Randi; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F

Brain.

Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Collins, Ryan; Talkowski, Michael E

Nature. 581:444-451

Lian Y; Program in Brain Health, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; Kotobelli K; National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, Ohio, United States of America.; Hall S; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; Vallabh SM; Program in Brain Health, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; Prion Alliance, Cambridge, Massachusetts, United States of America.; Appleby BS; National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, Ohio, United States of America.; Minikel EV; Program in Brain Health, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.; Prion Alliance, Cambridge, Massachusetts, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7374 (Electronic) Linking ISSN: 15537366 NLM ISO Abbreviation: PLoS Pathog Subsets: MEDLINE

Reeve MP; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Loomis S; Research and Development, Biogen Inc, Cambridge, MA, USA.; Nissilä E; Department of Bacteriology and Immunology, Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.; Soare TW; insitro Inc., South San Francisco, CA, USA.; Rausch T; European Molecular Biological Laboratories (EMBL), Heidelberg, Germany.; Zheng Z; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Della Briotta Parolo P; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Ben-Isvy D; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Aho E; Department of Bacteriology and Immunology, Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.; Cesetti E; Department of Bacteriology and Immunology, Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; Okunuki Y; Research and Development, Biogen Inc, Cambridge, MA, USA.; McLaughlin H; Research and Development, Biogen Inc, Cambridge, MA, USA.; Mäkelä J; Finnish Biobank Cooperative (FinBB), Turku, Finland.; Kurki M; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Korbel JO; European Molecular Biological Laboratories (EMBL), Heidelberg, Germany.; Connor K; Research and Development, Biogen Inc, Cambridge, MA, USA.; Meri S; Department of Bacteriology and Immunology, Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.; Daly MJ; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. mjdaly@broadinstitute.org.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. mjdaly@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. mjdaly@broadinstitute.org.; Runz H; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. heiko.runz@gmail.com.; Research and Development, Biogen Inc, Cambridge, MA, USA. heiko.runz@gmail.com.; insitro Inc., South San Francisco, CA, USA. heiko.runz@gmail.com.; European Molecular Biological Laboratories (EMBL), Heidelberg, Germany. heiko.runz@gmail.com.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Talkowski, Michael E ; Rehm, Heidi L

In The Lancet 23 February-1 March 2019 393(10173):719-721

Mejia Maza A; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hincher M; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Correia K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Gillis T; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Nishiyama A; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Penney EB; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Domingo A; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Yadav R; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Murcar MG; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Villafria Mercado PD; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Han JS; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Norenberg EP; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Fernandez-Cerado C; Sunshine Care Foundation, Roxas City, Capiz, Philippines.; Legarda GP; Sunshine Care Foundation, Roxas City, Capiz, Philippines.; Sy M; Sunshine Care Foundation, Roxas City, Capiz, Philippines.; Muñoz EL; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.; Ang MC; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.; Diesta CCE; Movement Center of Makati Institute of Neurological, Neurosurgical and Behavioral Sciences (MINDS), Makati, Philippines.; Go C; Department of Neurology, Jose R. Reyes Memorial Medical Center, Metro Manila, Philippines.; Sharma N; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Talkowski ME; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; MacDonald ME; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lee JM; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ozelius LJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA. Electronic address: laurie.ozelius@mgh.harvard.edu.; Wheeler VC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: vwheeler@mgh.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Gillani R; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Collins RL; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Crowdis J; Harvard Medical School, Boston, MA, USA.; Garza A; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Jones JK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Harvard/MIT MD-PhD Program, Harvard Medical School, Boston, MA, USA.; Walker M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sanchis-Juan A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Whelan CW; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pierce-Hoffman E; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Brand H; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Haigis K; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; LoPiccolo J; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; AlDubayan SH; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; College of Medicine, King Saudi bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Gusev A; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Crompton BD; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Janeway KA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Van Allen EM; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, MA, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Cirnigliaro M; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Lowe JK; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Flynn-Carroll AO; Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.; Genomics and Computational Biology Program, University of Pennsylvania, Philadelphia, PA, USA.; Kumagai ME; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Gibson DS; Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Bioinformatics, University of California Los Angeles, Los Angeles, CA, USA.; Fu JM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Dong S; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Hou K; Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Pillalamarri V; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Genomics Ltd, Oxford, UK.; Abbacchi AM; Department of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.; Gulsrud AC; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Miller J; Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, CA, USA.; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.; Zhang Y; Department of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.; Graham ET; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Akinyemi EO; Departments of Pediatrics, Neuroscience, and Psychiatry & Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY, USA.; Adams MF; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Clay AN; Department of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.; Arteaga SA; Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Biomedical Data Science Department, Stanford University, Stanford, CA, USA.; Choi H; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Kochis RM; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Bioengineering, University of California Los Angeles, Los Angeles, CA, USA.; Peña-Velasco JE; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Hoekstra JN; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Besterman AD; Division of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Laura Rodriguez Research Institute of Family Health Centers of San Diego, San Diego, CA, USA.; Department of Psychiatry, University of California San Diego, San Diego, CA, USA.; Mehta S; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; PrairieCare Medical Group, Rochester, MN, USA.; Hadzic T; Division of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Newport Healthcare, CA, USA.; Wilson RB; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Division of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Brown TR; Division of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Hernandez LM; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Marrus N; Department of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.; Molholm S; Departments of Pediatrics, Neuroscience, and Psychiatry & Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY, USA.; Klaiman C; Marcus Autism Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Cantor RM; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sanders SJ; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; New York Genome Center, New York, NY, USA.; Arking DE; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Pasaniuc B; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Computer and Information Science, School of Engineering and Applied Sciences, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Klin A; Marcus Autism Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Constantino JN; Departments of Pediatrics, Psychiatry and Behavioral Sciences, and Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Geschwind DH; Department of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

McDiarmid TA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA.; Page NF; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, USA.; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Chardon FM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA.; Daza RM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA.; Chen GT; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, UCLA, Los Angeles, CA, USA.; Kosicki M; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; James LM; UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Nourie HC; UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Laboy-Cintrón D; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Lee AS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical & Population Genetics & Stanley Center for Psychiatric Research, Broad Institute of MIT & Harvard, Cambridge, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Vij P; Stem Cell Program and Gene Therapy Center, Institute for Regenerative Cures, MIND Institute, and Department of Neurology, University of California Davis Health, Sacramento, CA 95817.; Calderon D; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Lalanne JB; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Martin BK; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA.; Fink K; Stem Cell Program and Gene Therapy Center, Institute for Regenerative Cures, MIND Institute, and Department of Neurology, University of California Davis Health, Sacramento, CA 95817.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical & Population Genetics & Stanley Center for Psychiatric Research, Broad Institute of MIT & Harvard, Cambridge, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Muotri AR; Departments of Pediatrics; School of Medicine, UCSD, La Jolla, CA 92093, USA.; Departments of Cellular Molecular Medicine; School of Medicine, UCSD, La Jolla, CA 92093, USA.; Philpot BD; UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Pennacchio LA; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; U.S. Department of Energy Joint Genome Institute, One Cyclotron Road, Berkeley, CA, USA.; Comparative Biochemistry Program, University of California, Berkeley, CA, USA.; Geschwind DH; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Center for Autism Research and Treatment, Semel Institute, UCLA, Los Angeles, CA, USA.; Department of Psychiatry and Behavioral Sciences; David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Institute of Precision Health, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Sanders SJ; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Seattle Hub for Synthetic Biology, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, Seattle, WA, USA.; Allen Discovery Center for Cell Lineage Tracing, Seattle, WA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. mdawood@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. mdawood@bcm.edu.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA. mdawood@bcm.edu.; Heavner B; Department of Biostatistics, University of Washington, Seattle, WA, USA.; Wheeler MM; Department of Biostatistics, University of Washington, Seattle, WA, USA.; Ungar RA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.; Stanford Center for Biomedical Ethics, School of Medicine, Stanford University, Stanford, CA, USA.; LoTempio J; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Wiel L; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.; Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA.; Berger S; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Center for Precision Medicine and Genomics Research, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA.; Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Délot EC; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Shojaie A; Department of Biostatistics, University of Washington, Seattle, WA, USA.; Department of Statistics, University of Washington, Seattle, WA, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.; Wagner AH; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Department of Biomedical Informatics, The Ohio State University College of Medicine, Columbus, OH, USA.; Wei CL; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Wellington C; Office of Genomic Data Science, National Human Genome Research Institute, Bethesda, MD, USA.; Wheeler MT; Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA.; Carvalho CMB; Pacific Northwest Research Institute, Seattle, WA, USA.; Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gifford CA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA.; Basic Science and Engineering (BASE) Initiative, Betty Irene Moore Children's Heart Center, Stanford Medicine Children's Health, Stanford, CA, USA.; Institute for Stem Cell Biology and Regenerative Medicine, School of Medicine, Stanford University, Stanford, CA, USA.; May S; Department of Biostatistics, University of Washington, Seattle, WA, USA.; Miller DE; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; O'Donnell-Luria A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Chadwick LH; Division of Genome Sciences, National Human Genome Research Institute, Bethesda, MD, USA.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; Montgomery SB; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Nguyen C; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA.; Broersma EH; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Warden AS; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Mora C; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Han CZ; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA.; Keulen Z; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA.; Spann N; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA.; Wang J; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA.; Ramirez G; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Mak S; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Trescott S; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Khakpour M; School of Medical Sciences, University of Victoria, Victoria, British Columbia, Canada.; Johnson A; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA.; Qureshi F; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; La Frano MR; Salk Institute for Biological Studies, La Jolla, CA, USA.; Mohajeri K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Corradin O; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.; Tremblay MÈ; School of Medical Sciences, University of Victoria, Victoria, British Columbia, Canada.; Glass CK; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA. cglass@health.ucsd.edu.; Coufal NG; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA. ncoufal@health.ucsd.edu.; Sanford Consortium for Regenerative Medicine, La Jolla, CA, USA. ncoufal@health.ucsd.edu.

Publisher: Nature America Inc Country of Publication: United States NLM ID: 100941354 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2916 (Electronic) Linking ISSN: 15292908 NLM ISO Abbreviation: Nat Immunol Subsets: MEDLINE

Moyses-Oliveira M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Liu Y; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Erdin S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gao D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Bhavsar R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Mohajeri K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.; O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Boone PM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Xavier G; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Liao C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Li A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mount Sinai Center for Transformative Disease Modeling, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Yadav R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Currall B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; de Esch CEF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Tai DJC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ruderfer D; Division of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, 1211 Medical Center Dr. Nashville, TN, USA.; Department of Biomedical Informatics and Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, 1211 Medical Center Dr. Nashville, TN, USA.; Brennand KJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mount Sinai Center for Transformative Disease Modeling, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Yale University New Haven, CT, USA.; Gusella JF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Harvard Stem Cell Institute, Harvard University, Cambridge, MA, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Yadav R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Vaine CA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Domingo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Reed S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Shah S; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Gao D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Bhavsar R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; McMahon MA; Ionis Pharmaceuticals, Carlsbad, CA, USA.; Jackson M; Ionis Pharmaceuticals, Carlsbad, CA, USA.; Courtney M; Ionis Pharmaceuticals, Carlsbad, CA, USA.; Murcar MG; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Fernandez-Cerado C; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.; Legarda GPA; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.; Sy M; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.; Velasco-Andrada MS; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.; Muñoz EL; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.; Ang MAC; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.; Diesta CCE; Movement Center of Makati Med Institute of Neurological, Neurosurgical and Behavioral Sciences, Makati City, Philippines.; Erdin S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Penney EB; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.; Ozelius L; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Sharma N; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bennett CF; Ionis Pharmaceuticals, Carlsbad, CA, USA.; Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Garimella KV; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Li Q; Department of Computer Science, Johns Hopkins University, Baltimore MD, USA.; Wertz J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Lee SK; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cunial F; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Huang Y; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Mostovoy Y; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Lorig-Roach R; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; English A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Su H; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Levy S; HudsonAlpha Institute for Biotechnology.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Berngruber C; HudsonAlpha Institute for Biotechnology.; Danzi MC; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; LaPlante EL; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Patterson K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Rozanski AN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Schwartz S; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Shifaw B; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wang Y; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.; Wong I; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Xu IRL; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Zaheri S; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Zuchner S; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Zheng X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Dugan-Perez S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Izydorczyk M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Mehta H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Lichtenstein L; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Broad, Color, and Mass General Brigham Laboratory for Molecular Medicine, Boston, MA, USA.; Lennon N; Broad, Color, and Mass General Brigham Laboratory for Molecular Medicine, Boston, MA, USA.; Gabriel S; Broad, Color, and Mass General Brigham Laboratory for Molecular Medicine, Boston, MA, USA.; Timp W; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Dutka T; All of Us Research Program, National Institutes of Health, Bethesda, MD, USA.; Musick A; All of Us Research Program, National Institutes of Health, Bethesda, MD, USA.; Wei CL; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore MD, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Kelly Graves O; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Kang J; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Li H; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Erdin S; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.; Smith M; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Mueller A; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Mass General Brigham Department of Anesthesiology, Brigham and Women's Hospital, Boston, MA, 02115, USA.; Simon C; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Wiredu K; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Bhave V; Harvard Medical School, Boston, MA, 02115, USA.; De Esch C; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.; Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.; Rhee J; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Qu J; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA.; McKay TB; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA. tmckay@mgh.harvard.edu.; Akeju O; Mass General Brigham Department of Anesthesiology, Massachusetts General Hospital, Boston, MA, 02114, USA. oluwaseun.akeju@mgh.harvard.edu.; Mass General Brigham Department of Anesthesiology, Brigham and Women's Hospital, Boston, MA, 02115, USA. oluwaseun.akeju@mgh.harvard.edu.

Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ebert P; Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Audano PA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Loftus M; Department of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.; Center for Human Genetics, Clemson University, Greenwood, SC, USA.; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Ebler J; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Yilmaz F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Hallast P; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Prodanov T; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Paisie CA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Zhao X; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Martino GV; Department of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.; Center for Human Genetics, Clemson University, Greenwood, SC, USA.; Medical University of South Carolina, College of Graduate Studies, Charleston, SC, USA.; Henglin M; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Rabbani K; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.; Chin CS; Pathos AI Inc., Chicago, IL, USA.; Gu B; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.; Ashraf H; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Scholz S; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute of Medical Microbiology and Hospital Hygiene, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Austine-Orimoloye O; European Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK.; Balachandran P; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Bonder MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center, Heidelberg, Germany.; Cheng H; Department of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA.; Chong Z; Department of Biomedical Informatics and Data Science, Heersink School of Medicine, University of Alabama, Birmingham, AL, USA.; Crabtree J; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Gerstein M; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Guethlein LA; Department of Structural Biology, School of Medicine, Stanford University, Stanford, CA, USA.; Hasenfeld P; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.; Hickey G; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Hunt SE; European Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK.; Jensen M; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Jiang Y; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Koren S; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Kwon Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Li C; Department of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, PA, USA.; Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, PA, USA.; Li H; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Li J; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Norman PJ; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA.; Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO, USA.; Oshima KK; Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Phillippy AM; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Pollock NR; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA.; Rausch T; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.; Rautiainen M; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; Song Y; Department of Biomedical Informatics and Data Science, Heersink School of Medicine, University of Alabama, Birmingham, AL, USA.; Söylev A; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Surapaneni L; European Molecular Biology Laboratory, Wellcome Genome Campus, European Bioinformatics Institute, Cambridge, UK.; Tsapalou V; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.; Zhou W; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Zhou Y; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA.; Zhu Q; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Stanford Health Care, Palo Alto, CA, USA.; Zody MC; New York Genome Center, New York, NY, USA.; Mills RE; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Devine SE; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Shi X; Department of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, PA, USA.; Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, PA, USA.; Talkowski ME; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.; Dilthey AT; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Institute of Medical Microbiology and Hospital Hygiene, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Konkel MK; Department of Genetics and Biochemistry, Clemson University, Clemson, SC, USA. mkonkel@clemson.edu.; Center for Human Genetics, Clemson University, Greenwood, SC, USA. mkonkel@clemson.edu.; Korbel JO; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. jan.korbel@embl.org.; Lee C; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Charles.Lee@jax.org.; Beck CR; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Christine.Beck@jax.org.; The University of Connecticut Health Center, Farmington, CT, USA. Christine.Beck@jax.org.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ee3@uw.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. ee3@uw.edu.; Marschall T; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.; Institute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: In Process; MEDLINE

Akkari YMN; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University, Columbus, Ohio, USA.; Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Breman AM; Division of Diagnostic Genetics and Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Kerschbamer, Emanuela; Arnoldi, Michele; Tripathi, Takshashila; Pellegrini, Miguel; Maturi, Samuele; Erdin, Serkan; Salviato, Elisa; Di Leva, Francesca; Sebestyén, Endre; Dassi, Erik; Zarantonello, Giulia; Benelli, Matteo; Campos, Eric; Basson, M Albert; Gusella, James F; Gustincich, Stefano; Piazza, Silvano; Demichelis, Francesca; Talkowski, Michael E; Ferrari, Francesco

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