title: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
abstract: Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Claire
authors.initials: C
authors.lastname: Redin
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Harrison
authors.initials: H
authors.lastname: Brand
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.|Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Ryan L
authors.identifier: 0000-0003-1268-9995
authors.initials: RL
authors.lastname: Collins
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Tammy
authors.initials: T
authors.lastname: Kammin
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Elyse
authors.initials: E
authors.lastname: Mitchell
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.|Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.|Department of Pediatrics, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Jennelle C
authors.initials: JC
authors.lastname: Hodge
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Carrie
authors.initials: C
authors.lastname: Hanscom
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Vamsee
authors.initials: V
authors.lastname: Pillalamarri
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.|GABBA Program, University of Porto, Porto, Portugal.
authors.forename: Catarina M
authors.initials: CM
authors.lastname: Seabra
authors.affiliation: Medical Genetics, Baystate Medical Center, Springfield, Massachusetts, USA.
authors.forename: Mary-Alice
authors.initials: MA
authors.lastname: Abbott
authors.affiliation: Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
authors.affiliation: Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
authors.forename: Erika
authors.initials: E
authors.lastname: Aberg
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Rhett
authors.initials: R
authors.lastname: Adley
authors.affiliation: Medical Genomics Division, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico.
authors.forename: Sofia L
authors.initials: SL
authors.lastname: Alcaraz-Estrada
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.identifier: 0000-0003-4158-341X
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Institutes of Biomedical Sciences (IBS) of Shanghai Medical School and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: An
authors.affiliation: Center for Human Genetic Research DNA and Tissue Culture Resource, Boston, Massachusetts, USA.
authors.forename: Mary-Anne
authors.initials: MA
authors.lastname: Anderson
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Caroline
authors.initials: C
authors.lastname: Antolik
authors.affiliation: Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA.
authors.forename: Kwame
authors.initials: K
authors.lastname: Anyane-Yeboa
authors.affiliation: Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.|Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio, USA.
authors.forename: Joan F
authors.initials: JF
authors.lastname: Atkin
authors.affiliation: Department of Genetics, Kaiser Permanente, Sacramento, California, USA.
authors.forename: Tina
authors.initials: T
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authors.affiliation: Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Jonathan A
authors.initials: JA
authors.lastname: Bernstein
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.|Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Beyer
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Ian
authors.initials: I
authors.lastname: Blumenthal
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Ernie M H F
authors.initials: EM
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authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Eva H
authors.initials: EH
authors.lastname: Brilstra
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.|Department of Genetics, Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Chester W
authors.initials: CW
authors.lastname: Brown
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands.
authors.forename: Hennie T
authors.initials: HT
authors.lastname: Brüggenwirth
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Bert
authors.initials: B
authors.lastname: Callewaert
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Colby
authors.identifier: 0000-0002-4113-6065
authors.initials: C
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authors.affiliation: Greenwood Genetic Center, Columbia, South Carolina, USA.
authors.forename: Ken
authors.initials: K
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authors.affiliation: West Midlands Regional Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Cox
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Edwin
authors.initials: E
authors.lastname: Cuppen
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Benjamin B
authors.initials: BB
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authors.affiliation: Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, University of New Mexico, Albuquerque, New Mexico, USA.
authors.forename: Tom
authors.initials: T
authors.lastname: Cushing
authors.affiliation: Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal.
authors.forename: Dezso
authors.initials: D
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authors.affiliation: Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.|Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Annelies
authors.initials: A
authors.lastname: Dheedene
authors.affiliation: Department of Neurology and Child Neurology, Algemeen Ziekenhuis Sint-Jan, Brugge, Belgium.
authors.forename: Marc
authors.initials: M
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authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Bert B A
authors.initials: BB
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authors.affiliation: Seattle Children's, Seattle, Washington, USA.
authors.forename: Dawn L
authors.initials: DL
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authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Heather L
authors.initials: HL
authors.lastname: Ferguson
authors.affiliation: Mount Sinai West Hospital, New York, New York, USA.
authors.forename: Heather
authors.initials: H
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authors.affiliation: MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Pamela
authors.initials: P
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authors.affiliation: Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Giachino
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Joseph T
authors.initials: JT
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authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Troy
authors.initials: T
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authors.affiliation: UW Cancer Center at ProHealth Care, Waukesha, Wisconsin, USA.
authors.forename: Margo
authors.initials: M
authors.lastname: Grady
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.|Department of Genetics, Texas Children's Hospital, Houston, Texas, USA.
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authors.identifier: 0000-0001-8451-8154
authors.initials: BH
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authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.|Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
authors.forename: Cristin
authors.initials: C
authors.lastname: Griffis
authors.affiliation: Sidney Kimmel Medical School at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.affiliation: Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA.
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Gropman
authors.affiliation: Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.|Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Andrea
authors.initials: A
authors.lastname: Hanson-Kahn
authors.affiliation: Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA.|Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Harris
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Hayden
authors.affiliation: Department of Neurology, Auckland City Hospital, Auckland, New Zealand.
authors.forename: Rosamund
authors.initials: R
authors.lastname: Hill
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.affiliation: Division of Genetics, Department of Pediatrics, Boston Medical Center, Boston, Massachusetts, USA.
authors.forename: Jodi D
authors.initials: JD
authors.lastname: Hoffman
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.|Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.affiliation: Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.|Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.|Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Monika W
authors.initials: MW
authors.lastname: Hubshman
authors.affiliation: Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
authors.affiliation: Academic Affairs, American Board of Medical Specialties, Chicago, Illinois, USA.
authors.forename: Mira
authors.initials: M
authors.lastname: Irons
authors.affiliation: Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.|Division of Medical and Molecular Genetics, King's College London, London, UK.
authors.forename: Melita
authors.initials: M
authors.lastname: Irving
authors.affiliation: Centre for Brain Research and School of Biological Sciences, University of Auckland, Auckland, New Zealand.
authors.forename: Jessie C
authors.initials: JC
authors.lastname: Jacobsen
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Sandra
authors.initials: S
authors.lastname: Janssens
authors.affiliation: Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
authors.forename: Tamison
authors.initials: T
authors.lastname: Jewett
authors.affiliation: Department of Molecular Genetics, Shodair Children's Hospital, Helena, Montana, USA.
authors.forename: John P
authors.initials: JP
authors.lastname: Johnson
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Marjolijn C
authors.initials: MC
authors.lastname: Jongmans
authors.affiliation: Division of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas, USA.
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Kahler
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: David A
authors.initials: DA
authors.lastname: Koolen
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Jerome
authors.initials: J
authors.lastname: Korzelius
authors.affiliation: Institute of Human Genetics, Medical University of Graz, Graz, Austria.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Kroisel
authors.affiliation: Department of Pediatrics, Louisiana State University Health Sciences Center (LSUHSC) and Children's Hospital, New Orleans, Louisiana, USA.
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: William
authors.initials: W
authors.lastname: Lawless
authors.affiliation: Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, Quebec, Canada.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Lemyre
authors.affiliation: Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.|Clinical Genetics, Group Health Cooperative, Seattle, Washington, USA.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Leppig
authors.affiliation: Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: Alex V
authors.initials: AV
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authors.affiliation: Center for Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
authors.forename: Haibo
authors.initials: H
authors.lastname: Li
authors.affiliation: Center for Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.affiliation: Center for Regenerative Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.|Division of Plastic and Reconstructive Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.|Harvard Stem Cell Institute, Cambridge, Massachusetts, USA.
authors.forename: Eric C
authors.initials: EC
authors.lastname: Liao
authors.affiliation: Division of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas, USA.|Virginia G. Piper Cancer Center at HonorHealth, Scottsdale, Arizona, USA.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Lim
authors.affiliation: Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, Alabama, USA.
authors.forename: Edward J
authors.initials: EJ
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authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Diane
authors.initials: D
authors.lastname: Lucente
authors.affiliation: Clinical Cytogenetics Laboratory, New York-Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Macera
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Poornima
authors.initials: P
authors.lastname: Manavalan
authors.affiliation: Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Mandrile
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Carlo L
authors.initials: CL
authors.lastname: Marcelis
authors.affiliation: Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
authors.forename: Lauren
authors.initials: L
authors.lastname: Margolin
authors.affiliation: Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
authors.forename: Tamara
authors.initials: T
authors.lastname: Mason
authors.affiliation: Department of Genetics, Rady Children's Hospital, San Diego, California, USA.
authors.forename: Diane
authors.initials: D
authors.lastname: Masser-Frye
authors.affiliation: Department of Obstetrics and Gynecology, Madigan Army Medical Center, Tacoma, Washington, USA.
authors.forename: Michael W
authors.initials: MW
authors.lastname: McClellan
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Cinthya J Zepeda
authors.initials: CJ
authors.lastname: Mendoza
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Sjors
authors.initials: S
authors.lastname: Middelkamp
authors.affiliation: Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.|Centro Universitário Autônomo do Brasil (Unibrasil), Curitiba, Brazil.
authors.forename: Liya R
authors.initials: LR
authors.lastname: Mikami
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.|Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
authors.forename: Emily
authors.initials: E
authors.lastname: Moe
authors.affiliation: Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
authors.forename: Shehla
authors.initials: S
authors.lastname: Mohammed
authors.affiliation: Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland.
authors.forename: Tarja
authors.initials: T
authors.lastname: Mononen
authors.affiliation: Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.|Novant Health Derrick L. Davis Cancer Center, Winston-Salem, North Carolina, USA.
authors.forename: Megan E
authors.initials: ME
authors.lastname: Mortenson
authors.affiliation: GENOS Laboratory, Buenos Aires, Argentina.
authors.forename: Graciela
authors.initials: G
authors.lastname: Moya
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Aggie W
authors.initials: AW
authors.lastname: Nieuwint
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Zehra
authors.initials: Z
authors.lastname: Ordulu
authors.affiliation: Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.|Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Sandhya
authors.initials: S
authors.lastname: Parkash
authors.affiliation: Harvard Medical School, Boston, Massachusetts, USA.|Medical Genetics, Harvard Vanguard Medical Associates, Watertown, Massachusetts, USA.
authors.forename: Susan P
authors.initials: SP
authors.lastname: Pauker
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Shahrin
authors.initials: S
authors.lastname: Pereira
authors.affiliation: Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
authors.forename: Danielle
authors.initials: D
authors.lastname: Perrin
authors.affiliation: Hayward Genetics Program, Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA.
authors.forename: Katy
authors.initials: K
authors.lastname: Phelan
authors.affiliation: Medical Genomics Division, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico.|School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.
authors.forename: Raul E Piña
authors.initials: RE
authors.lastname: Aguilar
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Pino J
authors.initials: PJ
authors.lastname: Poddighe
authors.affiliation: Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Torino, Turin, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Pregno
authors.affiliation: Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.|Children's Research Institute, Milwaukee, Wisconsin, USA.
authors.forename: Linda
authors.initials: L
authors.lastname: Reis
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.|Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.|Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
authors.forename: William
authors.initials: W
authors.lastname: Rhead
authors.affiliation: Midwest Diagnostic Pathology, Aurora Clinical Labs, Rosemont, Illinois, USA.
authors.forename: Debra
authors.initials: D
authors.lastname: Rita
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Ivo
authors.initials: I
authors.lastname: Renkens
authors.affiliation: Algemeen Ziekenhuis Delta, Roeselare, Belgium.
authors.forename: Filip
authors.initials: F
authors.lastname: Roelens
authors.affiliation: Center for Human Genetic Research DNA and Tissue Culture Resource, Boston, Massachusetts, USA.
authors.forename: Jayla
authors.initials: J
authors.lastname: Ruliera
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Patrick
authors.identifier: 0000-0003-4059-0247
authors.initials: P
authors.lastname: Rump
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.|Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Samantha L P
authors.identifier: 0000-0002-8991-6327
authors.initials: SL
authors.lastname: Schilit
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.affiliation: Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Sparkes
authors.affiliation: Division of Maternal Fetal Medicine, Columbia University Medical Center, New York, New York, USA.
authors.forename: Erica
authors.initials: E
authors.lastname: Spiegel
authors.affiliation: McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas, USA.
authors.forename: Blair
authors.initials: B
authors.lastname: Stevens
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Stone
authors.affiliation: Genetic Services, Alberta Health Services, Lethbridge, Alberta, Canada.
authors.forename: Julia
authors.initials: J
authors.lastname: Tagoe
authors.affiliation: Harvard Medical School, Boston, Massachusetts, USA.|Division of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Joseph V
authors.initials: JV
authors.lastname: Thakuria
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Bregje W
authors.initials: BW
authors.lastname: van Bon
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Jiddeke
authors.initials: J
authors.lastname: van de Kamp
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Ineke
authors.initials: I
authors.lastname: van Der Burgt
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Ton
authors.initials: T
authors.lastname: van Essen
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Conny M
authors.initials: CM
authors.lastname: van Ravenswaaij-Arts
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Markus J
authors.initials: MJ
authors.lastname: van Roosmalen
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Sarah
authors.identifier: 0000-0002-0816-6262
authors.initials: S
authors.lastname: Vergult
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Catharina M L
authors.initials: CM
authors.lastname: Volker-Touw
authors.affiliation: Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA.
authors.forename: Dorothy P
authors.initials: DP
authors.lastname: Warburton
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Department of Biology, Eastern Nazarene College, Quincy, Massachusetts, USA.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Waterman
authors.affiliation: Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinatti, Ohio, USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Wiley
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Anna
authors.initials: A
authors.lastname: Wilson
authors.affiliation: Laboratory of Genetics, Centro Medico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico.
authors.forename: Maria de la Concepcion A
authors.initials: MC
authors.lastname: Yerena-de Vega
authors.affiliation: Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida, USA.
authors.forename: Roberto T
authors.initials: RT
authors.lastname: Zori
authors.affiliation: Department of Pathology, Columbia University, New York, New York, USA.
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.|Department of Clinical Genetics, and Grow School of Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.affiliation: Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.affiliation: Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Wigard P
authors.initials: WP
authors.lastname: Kloosterman
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Erik C
authors.initials: EC
authors.lastname: Thorland
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.|Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Harvard Medical School, Boston, Massachusetts, USA.|Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester, UK.
authors.forename: Cynthia C
authors.identifier: 0000-0003-2198-6756
authors.initials: CC
authors.lastname: Morton
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: James F
authors.initials: JF
authors.lastname: Gusella
authors.affiliation: Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.|Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, 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.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Talkowski
mesh_terms: D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male
chemical_list: D005819:Genetic Markers