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Mary Helen Black
Kaiser Permanente
EndocrinologyGestational diabetesObesityDiabetes mellitusMedicine
108Publications
29H-index
2,450Citations
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Publications 105
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#1Mary PritzlaffH-Index: 1
#2Yu TianH-Index: 21
Last. Jianfeng Xu (NorthShore University HealthSystem)H-Index: 83
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We describe the pathogenic variant spectrum and identify predictors of positive results among men referred for clinical genetic testing for prostate cancer. One thousand eight hundred twelve men with prostate cancer underwent clinical multigene panel testing between April 2012 and September 2017. Stepwise logistic regression determined the most reliable predictors of positive results among clinical variables reported on test requisition forms. A yield of 9.4–12.1% was observed among men with no ...
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#1Yishuo WuH-Index: 16
#2Hongjie YuH-Index: 9
Last. Brian T. HelfandH-Index: 33
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#1Yishuo Wu (Fudan University)H-Index: 16
#2Hongjie Yu (NorthShore University HealthSystem)H-Index: 9
Last. William B. Isaacs (Johns Hopkins University)H-Index: 107
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Abstract Background Rare germline mutations in several genes, primarily DNA repair genes, have been proposed to predict worse prognosis of prostate cancer (PCa). Objective To compare the frequency of germline pathogenic mutations in commonly assayed PCa genes between high- and low-grade PCa in patients initially presenting with clinically localized disease. Design, setting, and participants A retrospective case-case study of 1694 PCa patients who underwent radical prostatectomy at Johns Hopkins ...
1 CitationsSource
#1Mary Helen BlackH-Index: 29
#2Shuwei LiH-Index: 6
Last. Kathryn J. Ruddy (Mayo Clinic)H-Index: 30
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Background: Polygenic risk scores (PRS) based on a large number of SNPs associated with breast cancer have recently been made available in combination with multigene panel testing for clinical management of breast cancer risk. Breast cancer risk assessment has historically been performed using various non-genetic risk models, which predict lifetime risk of breast cancer in unaffected women based on personal and family history information. While clinical use of PRS in combination with these model...
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#1Carolyn HortonH-Index: 1
#2Holly LaDucaH-Index: 13
Last. Jill S. DolinskyH-Index: 13
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#1Shuwei LiH-Index: 6
#1Shuwei LiH-Index: 14
Last. Mary Helen BlackH-Index: 29
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Background Pathogenic variants in mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) increase risk for Lynch syndrome and related cancers. We quantified tumour characteristics to assess variant pathogenicity for germline MMR genes. Methods Among 4740 patients with cancer with microsatellite instability (MSI) and immunohistochemical (IHC) results, we tested MMR pathogenic variant association with MSI/IHC status, and estimated likelihood ratios which we used to compute a tumour characteristic...
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#1Ronald A. Navarro (KP: Kaiser Permanente)H-Index: 13
#2Annette L. Adams (KP: Kaiser Permanente)H-Index: 21
Last. Mary Helen Black (KP: Kaiser Permanente)H-Index: 29
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#1Rosa M. Xicola (Yale University)H-Index: 23
#2Shuwei LiH-Index: 6
Last. Xavier Llor (Yale University)H-Index: 29
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Background The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at determining cancer phenotype and cancer risk estimation among families with CDH1 pathogenic variants not selected by HDGC clinical criteria. Methods Patients were all consecutively identified CDH1 pathogenic variant carriers from a clinical laboratory tested with multigene panel testing and from an academic cancer ...
8 CitationsSource
#1Ronald A. NavarroH-Index: 13
#2Annette L. AdamsH-Index: 21
Last. Mary Helen BlackH-Index: 29
view all 7 authors...
#1Yu TianH-Index: 21
#1Yuan TianH-Index: 1
Last. Dajun QianH-Index: 1
view all 10 authors...
Many in silico predictors of genetic variant pathogenicity have been previously developed, but there is currently no standard application of these algorithms for variant assessment. Using 4,094 ClinVar-curated missense variants in clinically actionable genes, we evaluated the accuracy and yield of benign and deleterious evidence in 5 in silico meta-predictors, as well as agreement of SIFT and PolyPhen2, and report the derived thresholds for the best performing predictor(s). REVEL and BayesDel ou...
1 CitationsSource
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