Robert Huether
Overview
Explore the profile of Robert Huether including associated specialties, affiliations and a list of published articles.
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41
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6233
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Recent Articles
1.
Shih A, Jun T, Skol A, Bao R, Huang L, Vora S, et al.
Br J Haematol
. 2022 Nov;
200(4):489-493.
PMID: 36349721
Some patients with therapy-related myeloid neoplasms (t-MN) may have unsuspected inherited cancer predisposition syndrome (CPS). We propose a set of clinical criteria to identify t-MN patients with high risk of...
2.
Fernandes L, Epstein C, Bobe A, Bell J, Stumpe M, Salazar M, et al.
Clin Breast Cancer
. 2021 Jan;
21(4):e340-e361.
PMID: 33446413
Objective/background: We performed a retrospective analysis of longitudinal real-world data (RWD) from patients with breast cancer to replicate results from clinical studies and demonstrate the feasibility of generating real-world evidence....
3.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai P, de Andrade K, et al.
Hum Mutat
. 2020 Dec;
42(3):223-236.
PMID: 33300245
Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome, a cancer predisposition disorder inherited in an autosomal dominant pattern associated with a high risk of malignancy, including early-onset breast...
4.
Carvill G, Helbig K, Myers C, Scala M, Huether R, Lewis S, et al.
Hum Mutat
. 2020 Mar;
41(7):1263-1279.
PMID: 32196822
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new...
5.
Parikh K, Huether R, White K, Hoskinson D, Beaubier N, Dong H, et al.
JAMA Netw Open
. 2020 Feb;
3(2):e200202.
PMID: 32108894
Importance: Tumor mutation burden (TMB) is an emerging factor associated with survival with immunotherapy. When tumor-normal pairs are available, TMB is determined by calculating the difference between somatic and germline...
6.
Beaubier N, Bontrager M, Huether R, Igartua C, Lau D, Tell R, et al.
Nat Biotechnol
. 2019 Oct;
37(11):1351-1360.
PMID: 31570899
Genomic analysis of paired tumor-normal samples and clinical data can be used to match patients to cancer therapies or clinical trials. We analyzed 500 patient samples across diverse tumor types...
7.
Beaubier N, Tell R, Lau D, Parsons J, Bush S, Perera J, et al.
Oncotarget
. 2019 May;
10(24):2384-2396.
PMID: 31040929
We developed and clinically validated a hybrid capture next generation sequencing assay to detect somatic alterations and microsatellite instability in solid tumors and hematologic malignancies. This targeted oncology assay utilizes...
8.
Chamberlin A, Huether R, Machado A, Groden M, Liu H, Upadhyay K, et al.
Hum Mol Genet
. 2019 Jan;
28(10):1620-1628.
PMID: 30608580
Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update. J. Clin....
9.
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Mester J, Ghosh R, Pesaran T, Huether R, Karam R, Hruska K, et al.
Hum Mutat
. 2018 Oct;
39(11):1581-1592.
PMID: 30311380
The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to...
10.
Lu H, Li S, Black M, Lee S, Hoiness R, Wu S, et al.
JAMA Oncol
. 2018 Aug;
5(1):51-57.
PMID: 30128536
Importance: Since the discovery of BRCA1 and BRCA2, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian cancer, or both; however, it is...