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E. Thorland · SciRah

Researcher profile · Semantic Scholar

E. Thorland

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E. Thorland — researcher profile on SciRah

h-index: 39
Works: 113
Citations: 10K

Most-cited papers

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T. Miller, M. Adam, S. Aradhya, L. Biesecker +28 more
2010American Journal of Human Genetics2,741 citations Open access
Semantic Scholar
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)
E. Riggs, Erica F. Andersen, A. Cherry, S. Kantarci +9 more
2019Genetics in Medicine1,490 citations Open access
Semantic Scholar
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
H. Kearney, E. Thorland, Kerry K. Brown, F. Quintero-Rivera +1 more
2011Genetics in Medicine841 citations Open access
Semantic Scholar
An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities
E. B. Kaminsky, V. Kaul, J. Paschall, D. Church +30 more
2011Genetics in Medicine412 citations Open access
Semantic Scholar
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
R. Ensenauer, Adewale Adeyinka, H. Flynn, Virginia V. Michels +13 more
2003American Journal of Human Genetics359 citations Open access
Semantic Scholar
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
D. Moreno-De-Luca, J. Mulle, E. B. Kaminsky, Stephan J Sanders +31 more
2010American Journal of Human Genetics341 citations Open access
Semantic Scholar
The genomic landscape of small intestine neuroendocrine tumors.
Michaela S. Banck, R. Kanwar, A. Kulkarni, Ganesh K. Boora +14 more
2013Journal of Clinical Investigation297 citations Open access
Semantic Scholar
The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies
C. Redin, H. Brand, Ryan L. Collins, T. Kammin +145 more
2016Nature Genetics290 citations Open access
Semantic Scholar
Common fragile sites are preferential targets for HPV16 integrations in cervical tumors
E. Thorland, Shannon L. Myers, B. Gostout, David I. Smith
2003Oncogene282 citations
Semantic Scholar
Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers
M. Ferber, D. P. Montoya, Chun-Rong Yu, Ileana Aderca +13 more
2003Oncogene219 citations
Semantic Scholar
Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma
M. Ferber, E. Thorland, A. Brink, A. K. Rapp +7 more
2003Oncogene191 citations Open access
Semantic Scholar
Overexpression of Syk tyrosine kinase in peripheral T-cell lymphomas
A. Feldman, David X. Sun, M. Law, A. Novak +11 more
2008Leukemia161 citations Open access
Semantic Scholar
Malignant Melanoma in the 21st Century: The Emerging Molecular Landscape
A. Sekulic, P. Haluska, Arlo J. Miller, Josep Genebriera De Lamo +10 more
2008Mayo Clinic proceedings152 citations Open access
Semantic Scholar
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
H. Mefford, Gregory M. Cooper, Troy Zerr, Joshua D. Smith +7 more
2009Genome Research144 citations Open access
Semantic Scholar
Towards an evidence-based process for the clinical interpretation of copy number variation
E. Riggs, D. Church, K. Hanson, Vanessa L. Horner +10 more
2011Clinical Genetics119 citations Open access
Semantic Scholar
Preclinical validation of fluorescence in situ hybridization assays for clinical practice
A. Wiktor, D. Van Dyke, P. Stupca, R. Ketterling +6 more
2006Genetics in Medicine101 citations Open access
Semantic Scholar
Chromosomal microarray impacts clinical management
E. Riggs, K. Wain, D. Riethmaier, Bethanny Smith‐Packard +5 more
2014Clinical Genetics93 citations
Semantic Scholar
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
K. Lazaridis, Kimberly A. Schahl, M. Cousin, D. Babovic-Vuksanovic +35 more
2016Mayo Clinic proceedings92 citations
Semantic Scholar
Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors
C. Morelli, E. Karayianni, C. Magnanini, A. Mungall +4 more
2002Oncogene88 citations Open access
Semantic Scholar
The Clinical Genome Resource (ClinGen): Advancing Genomic Knowledge through Global Curation
Erica F. Andersen, Danielle R. Azzariti, Larry Babb, Jonathan S. Berg +29 more
2024Genetics in Medicine79 citations Open access
Semantic Scholar
Correction: 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)
E. Riggs, Erica F. Andersen, A. Cherry, S. Kantarci +9 more
2021Genetics in Medicine76 citations Open access
Semantic Scholar
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
K. Tsuchiya, L. G. Shaffer, S. Aradhya, J. Gastier-Foster +9 more
2009Genetics in Medicine64 citations Open access
Semantic Scholar
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy
Wei Wang, Chen Wang, D. Dawson, E. Thorland +8 more
2016Neurology61 citations Open access
Semantic Scholar
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Patrick R. Gonzales, Erica F. Andersen, Teneille Brown, Vanessa L. Horner +6 more
2021Genetics in Medicine60 citations Open access
Semantic Scholar
Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization
Brandon M. Shearer, E. Thorland, A. W. Carlson, S. Jalal +1 more
2011Genetics in Medicine58 citations Open access
Semantic Scholar
Utilizing ClinGen Gene-Disease Validity and Dosage Sensitivity Curations to Inform Variant Classification
C. Thaxton, Molly E. Good, Marina T. DiStefano, Xi Luo +6 more
2021Human Mutation56 citations Open access
Semantic Scholar
Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays
N. Hoppman, Kandelaria M. Rumilla, Emily Lauer, H. Kearney +1 more
2018Genetics in Medicine53 citations Open access
Semantic Scholar
Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review
Ying S. Zou, D. Van Dyke, E. Thorland, Harinderpal S. Chhabra +6 more
2006American Journal of Medical Genetics. Part A52 citations
Semantic Scholar
Incidence of TCR and TCL1 Gene Translocations and Isochromosome 7q in Peripheral T-cell Lymphomas Using Fluorescence In Situ Hybridization
A. Feldman, M. Law, K. L. Grogg, E. Thorland +5 more
2008American Journal of Clinical Pathology49 citations Open access
Semantic Scholar
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
G. Raca, C. Astbury, Andrea Behlmann, M. D. De Castro +7 more
2022Genetics in Medicine45 citations Open access
Semantic Scholar
Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2)
N. Boczek, Carrie A. Lahner, Thuy-mi P. Nguyen, M. Ferber +4 more
2018American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
Infiltrative T regulatory cells in enucleated uveal melanomas.
Evan Lagouros, D. Salomao, E. Thorland, D. Hodge +2 more
2009Transactions of the American Ophthalmological Society44 citations
Semantic Scholar
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia
U. Aypar, Stephanie A. Smoley, B. Pitel, Kathryn E. Pearce +14 more
2018European Journal of Haematology41 citations Open access
Semantic Scholar
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
M. Uddin, G. Pellecchia, B. Thiruvahindrapuram, L. D’Abate +25 more
2016Scientific Reports39 citations Open access
Semantic Scholar
Loss of TP53 is due to rearrangements involving chromosome region 17p10∼p12 in chronic lymphocytic leukemia
S. Fink, Stephanie A. Smoley, Kimberly J. Stockero, S. Paternoster +7 more
200635 citations
Semantic Scholar
Recurrent Genomic Alterations in Soft Tissue Perineuriomas
Jodi M. Carter, Yan-Hong Wu, M. Blessing, A. Folpe +8 more
2018American Journal of Surgical Pathology34 citations
Semantic Scholar
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
Ian Goldlust, K. Hermetz, Lisa M. Catalano, R. Barfield +18 more
2013Proceedings of the National Academy of Sciences of the United States of America34 citations Open access
Semantic Scholar
Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar
E. Riggs, Tristan Nelson, Andrew Merz, Todd Ackley +24 more
2018Human Mutation30 citations Open access
Semantic Scholar
Fluorescence in situ hybridization to visualize genetic abnormalities in interphase cells of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas.
G. Dewald, T. Smyrk, E. Thorland, R. McWilliams +8 more
2009Mayo Clinic proceedings27 citations Open access
Semantic Scholar
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
D. Tester, Hannah M. Bombei, Kristi K. Fitzgerald, J. Giudicessi +12 more
2020JAMA cardiology26 citations Open access
Semantic Scholar
Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization
Cheryl Descipio, L. Conlin, J. Rosenfeld, James H. Tepperberg +22 more
2012American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Radhika Dhamija, J. Graham, N. Smaoui, E. Thorland +1 more
2014European Journal of Medical Genetics24 citations
Semantic Scholar
Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies
Brandon M. Shearer, E. Thorland, Patrick R. Gonzales, R. Ketterling
2007American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies
M. Gagnon, H. Berg, Reid G. Meyer, W. Sukov +10 more
2022Genes, Chromosomes and Cancer20 citations
Semantic Scholar
Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis.
A. Tefferi, Shireen Sirhan, Yi Sun, T. Lasho +10 more
2009Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis18 citations
Semantic Scholar
Loss of TP53 is due to rearrangements involving chromosome region 17p10 approximately p12 in chronic lymphocytic leukemia.
S. Fink, Stephanie A. Smoley, Kimberly J. Stockero, S. Paternoster +7 more
2006Cancer Genetics and Cytogenetics18 citations
Semantic Scholar
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
E. Eklund, Liang-Wu Sun, Samuel P. Yang, Romela M. Pasion +2 more
2006Biochemical and Biophysical Research Communications - BBRC16 citations
Semantic Scholar
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
Gavin R. Oliver, P. Blackburn, Marissa S. Ellingson, Erin Conboy +9 more
2019Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
Prenatal diagnosis of chromosome abnormalities: past, present, and future.
U. Aypar, E. Thorland, N. Hoppman
2013Clinical Chemistry15 citations
Semantic Scholar
Comprehensive validation of array comparative genomic hybridization platforms: how much is enough?
E. Thorland, Patrick R. Gonzales, Troy J. Gliem, A. Wiktor +1 more
2007Genetics in Medicine14 citations Open access
Semantic Scholar

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