Erik C. Thorland
Mayo Clinic(US)WinnMed(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer
Most-Cited Works
- → Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies(2010)2,855 cited
- → 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)(2019)1,703 cited
- → American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants(2011)952 cited
- → An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities(2011)447 cited
- → Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients(2003)376 cited
- → Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia(2010)