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Author Details

Karen Ouyang
Invitae Corporation
2013
14
5
PMIDPaper TitleJournal TitlePublished Year
36933558Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Am J Hum Genet2023
37255402FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.Cancer Discov2023
36773955Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.Urology2023
34724198Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.Cancer2022
35570716Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.Am J Med Genet A2022
33743207Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.Am J Hum Genet2021
32229555Measuring the predictability of life outcomes with a scientific mass collaboration.Proc Natl Acad Sci U S A2020
31610925Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.J Pediatr2019
29531232Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy.Sci Rep2018
28766213Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.Ann Surg Oncol2017
28592622Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes.Oncologist2017
26798524Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.Case Rep Genet2015
22800289A case of pediatric γ/δ T-cell malignancy with t(8;14)(q24;q11)/MYC-TCR successfully treated with pulse type chemotherapy followed by stem cell transplant.Leuk Lymphoma2013
22997192Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression.Pediatr Blood Cancer2013
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Collaborators

Edward D Esplin
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Co-authored papers 4
Rebecca Truty
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Co-authored papers 4
Blake R Wilde
University of California los angeles
Co-authored papers 3
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Co-authored papers 3
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Co-authored papers 3
Sarah M Nielsen
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Gordana Raca
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Robert L Nussbaum
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Paul C Boutros
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Kathryn E Hatchell
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Eric Lu
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Susan L Cohn
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Keith Nykamp
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Barbara E Engelhardt
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Shirin Zavoshi
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Shirin Zavoshi
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Daiki Ueno
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Liying Zhang
University of California Los Angeles
Co-authored papers 1
Shakti H Ramkissoon
Co-authored papers 1
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Co-authored papers 1
Settara C Chandrasekharappa
National Institutes of Health
Co-authored papers 1
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