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Erik C. Thorland | Researchclopedia

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Erik C. Thorland

123

Works

10,903

Citations

40

h-index

62

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Prenatal Screening and Diagnostics

Affiliations

Mayo Clinic1995–2025

China-Japan Friendship Hospital2016–2016

WinnMed2003–2025

Medical Genetics Center2013–2013

Mayo Clinic in Arizona2000–2024

Top Works

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,et al.

20102,855 citations

Cancer Genomics and Diagnostics

Genetic factors in colorectal cancer

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,et al.

20191,704 citations

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

Hutton M. Kearney,Erik C. Thorland,et al.

2011952 citations

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,et al.

2011447 citations

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

Regina Ensenauer,Adewale Adeyinka,et al.

2003376 citations

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca,Jennifer G. Mullé,et al.

2010332 citations

The genomic landscape of small intestine neuroendocrine tumors

Michaela S. Banck,Rahul Kanwar,et al.

2013327 citations

Common fragile sites are preferential targets for HPV16 integrations in cervical tumors

Erik C. Thorland,Shannon L Myers,et al.

2003247 citations

Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers

Matthew J. Ferber,Damian P. Montoya,et al.

2003233 citations