Author details

Full Name

Mary Helen Black

Affiliation

ORCID

Career Start Year

2005

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37388915	Comprehensive epigenomic profiling reveals the extent of disease-specific chromatin states and informs target discovery in ankylosing spondylitis.	Cell Genom	2023
35174967	Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.	Cancer Med	2022
33479058	The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium.	Diabetes	2021
31391288	Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.	Journal of Medical Genetics	2020
31948886	Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer.	Eur Urol Oncol	2020
32439974	Diagnosing hereditary cancer predisposition in men with prostate cancer.	Genetics in Medicine	2020
33258481	Validation of a prostate cancer polygenic risk score.	Prostate	2020
32904116	Does Knee Arthroscopy for Treatment of Meniscal Damage with Osteoarthritis Delay Knee Replacement Compared to Physical Therapy Alone?	Clinics in Orthopedic Surgery	2020
33409458	Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers.	JNCI Cancer Spectr	2020
31296550	Clinical features and cancer risk in families with pathogenic variants irrespective of clinical criteria.	Journal of Medical Genetics	2019
29035681	Cervical spine disease in surgeons performing arthroscopy or laparoscopy.		2019
30582135	Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort.	Familial Cancer	2019
30563988	Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.	Genetics in Medicine	2019
30128536	Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.	JAMA Oncol	2019
30629139	Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.	JAMA Oncology	2019
30612783	Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.	Gynecologic Oncology	2019
30702970	Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.	Journal of Clinical Oncology	2019
30744554	Risk factors for medication non-adherence among atrial fibrillation patients.	BMC Cardiovasc Disord	2019
31484976	REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.	Scientific Reports	2019
31105275	Genotype-phenotype associations among panel-based TP53+ subjects.	Genet Med	2019
31497750	Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.	JCO Precis Oncol	2018
30165842	Gestational weight gain across continents and ethnicity: systematic review and meta-analysis of maternal and infant outcomes in more than one million women.	BMC Medicine	2018
30067863	Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma.	Cancer	2018
30212499	A Bayesian framework for efficient and accurate variant prediction.	PLoS ONE	2018
30102726	Association of weight gain and fifteen adipokines with declining beta-cell function in Mexican Americans.	PLoS ONE	2018
30375290	A diet high in sugar-sweetened beverage and low in fruits and vegetables is associated with adiposity and a pro-inflammatory adipokine profile.	British Journal of Nutrition	2018
29427376	Longitudinal Increases in Adiposity Contribute to Worsening Adipokine Profile over Time in Mexican Americans.		2018
28245334	Association of Type 1 Diabetes vs Type 2 Diabetes Diagnosed During Childhood and Adolescence With Complications During Teenage Years and Young Adulthood.	JAMA - Journal of the American Medical Association	2017
35172517	Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.	JCO Precision Oncology	2017
28554178	Vitamin D and Albuminuria in Youth with and without Type 1 Diabetes.	Hormone Research in Paediatrics	2017
28330790	Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.	Pediatric Neurology	2017
28400367	Health Literacy and Awareness of Atrial Fibrillation.	J Am Heart Assoc	2017
26809018	Hypertensive disorders first identified in pregnancy increase risk for incident prehypertension and hypertension in the year after delivery.	Journal of Hypertension	2016
26147387	Prehypertension prior to or during early pregnancy is associated with increased risk for hypertensive disorders in pregnancy and gestational diabetes.	Journal of Hypertension	2015
25584717	Variation in PPARG is associated with longitudinal change in insulin resistance in Mexican Americans at risk for type 2 diabetes.	Journal of Clinical Endocrinology and Metabolism	2015
25936594	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.	J Autoimmun	2015
25341460	Racial and ethnic disparities in extremes of fetal growth after gestational diabetes mellitus.	Diabetologia	2015
26241258	Adverse Pregnancy Outcomes Using The International Association of the Diabetes and Pregnancy Study Groups Criteria: Glycemic Thresholds and Associated Risks.	Obstetrics and Gynecology	2015
24507954	Proton-pump inhibitor use and hip fractures in men: a population-based case-control study.	Ann Epidemiol	2014
24100956	Validation of pediatric diabetes case identification approaches for diagnosed cases by using information in the electronic health records of a large integrated managed health care organization.	American Journal of Epidemiology	2014
24100336	Metabolic syndrome is less likely to resolve in Hispanics and non-Hispanic blacks after bariatric surgery.	Annals of Surgery	2014
24865480	Associations of dietary intake patterns identified using reduced rank regression with markers of arterial stiffness among youth with type 1 diabetes.	European Journal of Clinical Nutrition	2014
24581944	Race/ethnicity and measures of glycaemia in the year after diagnosis among youth with type 1 and type 2 diabetes mellitus.	Journal of Diabetes and its Complications	2014
23343677	High-fat diet is associated with obesity-mediated insulin resistance and Î²-cell dysfunction in Mexican Americans.	Journal of Nutrition	2013
22891256	The relative contribution of prepregnancy overweight and obesity, gestational weight gain, and IADPSG-defined gestational diabetes mellitus to fetal overgrowth.	Diabetes Care	2013
22789612	Associations between childhood obesity and upper and lower extremity injuries.	Inj Prev	2013
22913598	HLA-associated phenotypes in youth with autoimmune diabetes.	Pediatric Diabetes	2013
24119024	High blood pressure in overweight and obese youth: implications for screening.	J Clin Hypertens (Greenwich)	2013
24030069	Longitudinal changes in insulin sensitivity and beta cell function between women with and without a history of gestational diabetes mellitus.	Diabetologia	2013
23756098	Prevalence of polycystic ovary syndrome in adolescents.	Fertil Steril	2013