Erik C. Thorland

Mayo Clinic

Publishes on Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics. 124 papers and 11k citations.

124Publications

11kTotal Citations

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Prenatal Screening and Diagnostics Cancer Genomics and Diagnostics Genetic factors in colorectal cancer

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Top publicationsby citations

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, Swaroop Aradhya et al.|The American Journal of Human Genetics|2010

Cited by 2.9kOpen Access

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 Andersen, Athena M. Cherry et al.|Genetics in Medicine|2019

Cited by 1.7kOpen Access

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown et al.|Genetics in Medicine|2011

Cited by 955Open Access

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 et al.|Genetics in Medicine|2011

Cited by 449

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al.|The American Journal of Human Genetics|2003

Cited by 380Open Access