The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin; Harrison Brand; Ryan L. Collins; Tammy Kammin; Elyse Mitchell; Jennelle C. Hodge; Carrie Hanscom; Vamsee Pillalamarri; Catarina M. Seabra; Mary‐Alice Abbott; Omar Abdul‐Rahman; Erika Aberg; Rhett Adley; Sofía Lizeth Alcaráz‐Estrada; Fowzan S. Alkuraya; Yu An; MaryAnne Anderson; Caroline Antolik; Kwame Anyane‐Yeboa; Joan Atkin; Tina M. Bartell; Jonathan A. Bernstein; Elizabeth Beyer; Ian Blumenthal; Ernie M.H.F. Bongers; Eva H. Brilstra; Chester Brown; Hennie T. Brüggenwirth; Bert Callewaert; Colby Chiang; Ken Corning; Helen Cox; Edwin Cuppen; Benjamin Currall; Tom Cushing; D. David; Matthew A. Deardorff; Annelies Dheedene; Marc D’Hooghe; Bert B.A. de Vries; Dawn Earl; Heather Ferguson; Heather Fisher; David Fitzpatrick; Pamela Gerrol; Daniela Giachino; Joseph Glessner; Troy J. Gliem; Margo Grady; Brett H. Graham; Cristin Griffis; Karen W. Gripp; Andrea Gropman; Andrea Hanson‐Kahn; David J. Harris; Mark A. Hayden; R. Sean Hill; Ron Hochstenbach; Jodi D. Hoffman; Robert J. Hopkin; Monika Weisz Hubshman; A. Micheil Innes; Mira Irons; Melita Irving; Jessie C. Jacobsen; Sandra Janssens; Tamison Jewett; John P. Johnson; Marjolijn C.J. Jongmans; Stephen G. Kahler; David A. Koolen; Jerome Korzelius; Peter M. Kroisel; Yves Lacassie; William Lawless; Emmanuelle Lemyre; Kathleen A. Leppig; Alex V. Levin; Haibo Li; Hong Li; Eric C. Liao; Cynthia Lim; Edward J. Lose; Diane Lucente; Michael J. Macera; Poornima Manavalan; Giorgia Mandrile; Carlo Marcelis; Lauren Margolin; Tamara Mason; Diane Masser‐Frye; Michael McClellan; Cinthya J. Zepeda Mendoza; Björn Menten; Sjors Middelkamp; Liya Regina Mikami; Emily Moe; Shehla Mohammed; Tarja Mononen; Megan Mortenson; Graciela Moya; Aggie Nieuwint; Zehra Ordulu; Sandhya Parkash; Susan P. Pauker; Shahrin Pereira; Danielle Perrin; Katy Phelan; Raul E Piña Aguilar; Pino J. Poddighe; Giulia Pregno; Salmo Raskin; Linda M. Reis; William J. Rhead; Debra Rita; Ivo Renkens; Filip Roelens; Jayla Ruliera; Patrick Rump; Samantha L.P. Schilit; Ranad Shaheen; Rebecca Sparkes; Erica Spiegel; Blair Stevens; Matthew R. Stone; Julia Tagoe; Joseph V. Thakuria; Bregje W.M. van Bon; Jiddeke van de Kamp; Ineke van der Burgt; Ton van Essen; Conny M.A. van Ravenswaaij‐Arts; Markus J. van Roosmalen; Sarah Vergult; Catharina M.L. Volker‐Touw; Dorothy Warburton; Matthew J. Waterman; Susan Wiley; Anna E. Wilson; Maria de la Concepcion A Yerena-de Vega; Roberto T. Zori; Brynn Levy; Han G. Brunner; Nicole de Leeuw; Wigard P. Kloosterman; Erik C. Thorland; Cynthia C. Morton; James F. Gusella; Michael E. Talkowski

doi:10.1038/ng.3720

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin(Broad Institute), Harrison Brand(Broad Institute), Ryan L. Collins(Broad Institute), Tammy Kammin(Brigham and Women's Hospital), Elyse Mitchell(Mayo Clinic), Jennelle C. Hodge(Cedars-Sinai Medical Center), Carrie Hanscom(Broad Institute), Vamsee Pillalamarri(Broad Institute), Catarina M. Seabra(Broad Institute), Mary‐Alice Abbott(Baystate Medical Center), Omar Abdul‐Rahman(University of Mississippi Medical Center), Erika Aberg(Izaak Walton Killam Health Centre), Rhett Adley(Massachusetts General Hospital), Sofía Lizeth Alcaráz‐Estrada(Institute for Social Security and Services for State Workers), Fowzan S. Alkuraya(King Faisal Specialist Hospital & Research Centre), Yu An(Shanghai Medical College of Fudan University), MaryAnne Anderson(Center for Human Genetics), Caroline Antolik(Broad Institute), Kwame Anyane‐Yeboa(Columbia University Irving Medical Center), Joan Atkin(Nationwide Children's Hospital), Tina M. Bartell(Kaiser Permanente), Jonathan A. Bernstein(Stanford University), Elizabeth Beyer(Children's Hospital of Wisconsin), Ian Blumenthal(Massachusetts General Hospital), Ernie M.H.F. Bongers(Radboud University Nijmegen), Eva H. Brilstra(University Medical Center Utrecht), Chester Brown(Baylor College of Medicine), Hennie T. Brüggenwirth, Bert Callewaert(Ghent University Hospital), Colby Chiang(Massachusetts General Hospital), Ken Corning(Greenwood Genetic Center), Helen Cox(Birmingham Women's Hospital), Edwin Cuppen(University Medical Center Utrecht), Benjamin Currall(Brigham and Women's Hospital), Tom Cushing(University of New Mexico), D. David(National Institute of Health Dr. Ricardo Jorge), Matthew A. Deardorff(Children's Hospital of Philadelphia), Annelies Dheedene(Ghent University Hospital), Marc D’Hooghe(AZ Sint-Jan), Bert B.A. de Vries(Radboud University Nijmegen), Dawn Earl(Seattle Children's Hospital), Heather Ferguson(Brigham and Women's Hospital), Heather Fisher(Mount Sinai Hospital), David Fitzpatrick(Western General Hospital), Pamela Gerrol(Brigham and Women's Hospital), Daniela Giachino(Department of Medical Sciences), Joseph Glessner(Broad Institute), Troy J. Gliem(Mayo Clinic), Margo Grady(ProHealth Care), Brett H. Graham(Baylor College of Medicine), Cristin Griffis(Children's Hospital of Wisconsin), Karen W. Gripp(Thomas Jefferson University), Andrea Gropman(Children's National), Andrea Hanson‐Kahn(Stanford University), David J. Harris(Boston Children's Hospital), Mark A. Hayden(Brigham and Women's Hospital), R. Sean Hill(Auckland City Hospital), Ron Hochstenbach(University Medical Center Utrecht), Jodi D. Hoffman(Boston Medical Center), Robert J. Hopkin(Cincinnati Children's Hospital Medical Center), Monika Weisz Hubshman(Rafael Advanced Defense Systems (Israel)), A. Micheil Innes(University of Calgary), Mira Irons(American Board of Medical Specialties), Melita Irving(King's College London), Jessie C. Jacobsen(University of Auckland), Sandra Janssens(Ghent University Hospital), Tamison Jewett(Wake Forest University), John P. Johnson(Shodair Children's Hospital), Marjolijn C.J. Jongmans(Radboud University Nijmegen), Stephen G. Kahler(Arkansas Children's Hospital), David A. Koolen(Radboud University Nijmegen), Jerome Korzelius(University Medical Center Utrecht), Peter M. Kroisel(Medical University of Graz), Yves Lacassie(Louisiana State University Health Sciences Center New Orleans), William Lawless(Massachusetts General Hospital), Emmanuelle Lemyre(Centre Hospitalier Universitaire Sainte-Justine), Kathleen A. Leppig(Group Health Cooperative), Alex V. Levin(Thomas Jefferson University), Haibo Li(Nanjing Medical University), Hong Li(Nanjing Medical University), Eric C. Liao(Harvard University), Cynthia Lim(Arkansas Children's Hospital), Edward J. Lose(University of Alabama at Birmingham), Diane Lucente(Massachusetts General Hospital), Michael J. Macera(NewYork–Presbyterian Hospital), Poornima Manavalan(Massachusetts General Hospital), Giorgia Mandrile(Department of Medical Sciences), Carlo Marcelis(Radboud University Nijmegen), Lauren Margolin(Broad Institute), Tamara Mason(Broad Institute), Diane Masser‐Frye(Rady Children's Hospital-San Diego), Michael McClellan(Madigan Army Medical Center), Cinthya J. Zepeda Mendoza(Brigham and Women's Hospital), Björn Menten(Ghent University Hospital), Sjors Middelkamp(University Medical Center Utrecht), Liya Regina Mikami(Pontifícia Universidade Católica do Paraná), Emily Moe(Children's Hospital of Wisconsin), Shehla Mohammed(Guy's and St Thomas' NHS Foundation Trust), Tarja Mononen(Kuopio University Hospital), Megan Mortenson(Novant Health), Graciela Moya, Aggie Nieuwint(Amsterdam UMC Location Vrije Universiteit Amsterdam), Zehra Ordulu(Brigham and Women's Hospital), Sandhya Parkash(Dalhousie University), Susan P. Pauker(Harvard University), Shahrin Pereira(Brigham and Women's Hospital), Danielle Perrin(Broad Institute), Katy Phelan(Tulane University), Raul E Piña Aguilar(University of Aberdeen), Pino J. Poddighe(Amsterdam UMC Location Vrije Universiteit Amsterdam), Giulia Pregno(Department of Medical Sciences), Salmo Raskin(Pontifícia Universidade Católica do Paraná), Linda M. Reis(Medical College of Wisconsin), William J. Rhead(Children's Hospital of Wisconsin), Debra Rita, Ivo Renkens(University Medical Center Utrecht), Filip Roelens(AZ Delta), Jayla Ruliera(Center for Human Genetics), Patrick Rump(University Medical Center Groningen), Samantha L.P. Schilit(Harvard University), Ranad Shaheen(King Faisal Specialist Hospital & Research Centre), Rebecca Sparkes(University of Calgary), Erica Spiegel(Columbia University Irving Medical Center), Blair Stevens(The University of Texas Health Science Center at Houston), Matthew R. Stone(Broad Institute), Julia Tagoe(Alberta Health Services), Joseph V. Thakuria(Harvard University), Bregje W.M. van Bon(Radboud University Nijmegen), Jiddeke van de Kamp(Amsterdam UMC Location Vrije Universiteit Amsterdam), Ineke van der Burgt(Radboud University Nijmegen), Ton van Essen(University Medical Center Groningen), Conny M.A. van Ravenswaaij‐Arts(University Medical Center Groningen), Markus J. van Roosmalen(University Medical Center Utrecht), Sarah Vergult(Ghent University Hospital), Catharina M.L. Volker‐Touw(University Medical Center Utrecht), Dorothy Warburton(Columbia University Irving Medical Center), Matthew J. Waterman(Eastern Nazarene College), Susan Wiley(Cincinnati Children's Hospital Medical Center), Anna E. Wilson(Massachusetts General Hospital), Maria de la Concepcion A Yerena-de Vega(Institute for Social Security and Services for State Workers), Roberto T. Zori(University of Florida), Brynn Levy(Columbia University), Han G. Brunner(Radboud University Nijmegen), Nicole de Leeuw(Radboud University Nijmegen), Wigard P. Kloosterman(University Medical Center Utrecht), Erik C. Thorland(Mayo Clinic), Cynthia C. Morton(Broad Institute), James F. Gusella(Broad Institute), Michael E. Talkowski(Broad Institute)

Nature Genetics

November 14, 2016

10.1038/ng.3720

Cited by 353Open Access

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