Robert Nussbaum

Genomic Medicine University of California, San Francisco, San Francisco, CA 
Medical Genetics
"Robert Nussbaum"

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Hammami Bomholtz S, Refaat M, Buur Steffensen A, et al. (2020) Functional phenotype variations of two novel K 7.1 mutations identified in patients with Long QT syndrome. Pacing and Clinical Electrophysiology : Pace
Parikh VN, Caleshu C, Reuter C, et al. (2019) Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circulation. Heart Failure. 12: e005371
Esplin E, Haverfield E, Yang S, et al. (2019) Abstract P4-03-06: Limitations of direct-to-consumer genetic screening for HBOC: False negatives, false positives and everything in between Cancer Research. 79
Cline MS, Liao RG, Parsons MT, et al. (2018) BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. Plos Genetics. 14: e1007752
Kidambi TD, Goldberg D, Nussbaum R, et al. (2018) Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify. Clinical Journal of Gastroenterology
Lincoln S, Truty R, Zook J, et al. (2018) Abstract PD1-03: Clinically actionable pathogenic mutations that may be missed by conventional NGS-based testing: An analysis of 80,000 patients Cancer Research. 78
Lincoln S, Zook J, Truty R, et al. (2018) Abstract P4-06-08: An interlaboratory study of complex mutation detection in genes associated with hereditary breast and ovarian cancer highlights both successes and current challenges Cancer Research. 78
Blanco A, Yang S, Michalski S, et al. (2018) Abstract P4-06-02: Germline analysis of breast cancer patients with abnormal somatic results: Ancillary assessment or critical co-diagnostic? Cancer Research. 78
Esplin E, Michalski S, Yang S, et al. (2018) Abstract P3-03-01: Clinical utility of finding pathogenic mutations beyond BRCA1/2 in breast cancer patients Cancer Research. 78
Weile J, Sun S, Cote AG, et al. (2017) A framework for exhaustively mapping functional missense variants. Molecular Systems Biology. 13: 957
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