E
Erik C. Thorland
Researcher at Mayo Clinic
Publications - 80
Citations - 8263
Erik C. Thorland is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Copy-number variation & Fluorescence in situ hybridization. The author has an hindex of 33, co-authored 71 publications receiving 7032 citations. Previous affiliations of Erik C. Thorland include China-Japan Friendship Hospital & University of Rochester.
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Journal ArticleDOI
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller,Margaret P Adam,Margaret P Adam,Swaroop Aradhya,Leslie G. Biesecker,Arthur R. Brothman,Nigel P. Carter,Deanna M. Church,John A. Crolla,Evan E. Eichler,Charles J. Epstein,W. Andrew Faucett,Lars Feuk,Jan M. Friedman,Ada Hamosh,Laird G. Jackson,Erin B. Kaminsky,Klaas Kok,Ian D. Krantz,Robert M. Kuhn,Charles Lee,James Ostell,Carla Rosenberg,Stephen W. Scherer,Nancy B. Spinner,Dimitri J. Stavropoulos,James Tepperberg,Erik C. Thorland,Joris Vermeesch,Darrel Waggoner,Michael S. Watson,Christa Lese Martin,David H. Ledbetter +32 more
TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
Journal ArticleDOI
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
TL;DR: The American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation: evaluation of constitutional copy number variants detected in the postnatal setting.
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs,Erica F. Andersen,Erica F. Andersen,Athena M. Cherry,Sibel Kantarci,Hutton M. Kearney,Ankita Patel,Gordana Raca,Deborah I. Ritter,Sarah T. South,Erik C. Thorland,Daniel E. Pineda-Alvarez,Swaroop Aradhya,Christa Lese Martin +13 more
TL;DR: A quantitative, evidence-based scoring framework is introduced; the implementation of the five-tier classification system widely used in sequence variant classification is encouraged; and “uncoupling” the evidence- based classification of a variant from its potential implications for a particular individual is recommended.
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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B. Kaminsky,Vineith Kaul,Justin Paschall,Deanna M. Church,Brian Bunke,Dawn Kunig,Daniel Moreno-De-Luca,Andres Moreno-De-Luca,Jennifer G. Mulle,Stephen T. Warren,Gabriele Richard,John G. Compton,Amy E. Fuller,Troy J. Gliem,Shuwen Huang,Morag N. Collinson,Sarah J. Beal,Todd Ackley,Diane L. Pickering,Denae M. Golden,Emily Aston,Heidi Whitby,Shashirekha Shetty,Michael R. Rossi,M. Katharine Rudd,Sarah T. South,Arthur R. Brothman,Warren G. Sanger,Ramaswamy K. Iyer,John A. Crolla,Erik C. Thorland,Swaroop Aradhya,David H. Ledbetter,David H. Ledbetter,Christa Lese Martin +34 more
TL;DR: This study presents the largest copy number variant case-control study to date comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 Copy number variant regions.
Journal ArticleDOI
Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
Regina Ensenauer,Adewale Adeyinka,Heather C. Flynn,Virginia V. Michels,Noralane M. Lindor,D. Brian Dawson,Erik C. Thorland,Cindy Pham Lorentz,Jennifer L. Goldstein,Marie T. McDonald,Wendy E. Smith,Elba Simon-Fayard,Alan A. Alexander,Anita S. Kulharya,Rhett P. Ketterling,Robin D. Clark,Syed M. Jalal +16 more
TL;DR: 13 patients' phenotypes ranged from mild to severe, sharing a tendency for velopharyngeal insufficiency with DG/VCFS but having other distinctive characteristics, as well, and the microduplication of 22q11.2 appears to be a new syndrome.