Published on 07/25/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut Ilse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul -
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Isik Esra et al. European journal of medical genetics 2019 Jul 103725 -
DNA sequencing study suggests common genetic basis for epilepsy
by Abbey Bigler, Broad Institute, July 23, 2019 -
Biomarkers improve prediction of 30-day unplanned readmission or mortality after paediatric congenital heart surgery.
Brown Jeremiah R et al. Cardiology in the young 2019 Jul 1-6 -
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.
Ben-David Yael et al. European journal of medical genetics 2019 Jul 103728 -
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak Laura et al. Human mutation 2019 Jul
Cancer
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The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.
Venturella Roberta et al. International journal of fertility & sterility 2019 Oct 13(3) 161-168 -
Lung Metastasis Predicts Better Prognosis in Metastatic Colorectal Cancer With Mutated KRAS.
Margalit Ofer et al. Clinical colorectal cancer 2019 Jun -
Choosing high-risk screening vs. surgery and the effect of treatment modality on anxiety and breast-specific sensuality in BRCA mutation carriers.
Rojas Kristin E et al. Gland surgery 2019 Jun 8(3) 249-257 -
Lynch Syndrome Screening in Gynecological Cancers: Results of an International Survey with Recommendations for Uniform Reporting Terminology for Mismatch Repair Immunohistochemistry Results.
Ryan Neil et al. Histopathology 2019 Jul -
Molecular Diagnostics in Oral Cancer and Oral Potentially Malignant Disorders - A Clinician's Guide.
Yap Tami et al. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2019 Jul -
Brief Report: Prevalence and Preliminary Validation of Screening Criteria to Identify Carriers of Germline BAP1 Mutations.
Zauderer Marjorie G et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2019 Jul -
A preliminary report of head-to-head comparison of 18-gene-based clinical-genomic model and oncotype DX 21-gene assay for predicting recurrence of early-stage breast cancer.
Yang Po-Sheng et al. Japanese journal of clinical oncology 2019 Jul -
Methods for Development of the European Commission Initiative on Breast Cancer Guidelines: Recommendations in the Era of Guideline Transparency.
Schünemann Holger J et al. Annals of internal medicine 2019 Jul -
Clinical Factors Associated With Gastric Cancer in Individuals with Lynch Syndrome.
Kim Jaihwan et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Jul -
Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China.
Chao Xiaopei et al. Cancer communications (London, England) 2019 Jul 39(1) 42 -
Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: ASCO Clinical Practice Guideline Update Summary.
Andre Fabrice et al. Journal of oncology practice 2019 Jul JOP1900264 -
Application of the Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) to patients conservatively treated: Outcomes from an institutional series.
Falcone Francesca et al. European journal of obstetrics, gynecology, and reproductive biology 2019 Jul 240220-225 -
Genomic comparison of paired primary breast carcinomas and lymph node macrometastases using the Oncotype DX Breast Recurrence Score ® test.
Boolbol Susan K et al. Breast cancer research and treatment 2019 Jul -
Cost effectiveness of Gene Expression Profiling in Patients with Early-Stage Breast Cancer in a Middle-Income Country, Turkey: Results of a Prospective Multicenter Study.
Özmen Vahit et al. European journal of breast health 2019 Jul 15(3) 183-190 -
Identification and monitoring of somatic mutations in circulating cell-free tumor DNA in lung cancer patients.
Francaviglia Ilaria et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 134225-232 -
Circulating tumor DNA detection is correlated to histologic types in patients with early-stage non-small-cell lung cancer.
Zhang Bin et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 134108-116 -
Clinical utility of plasma-based digital next-generation sequencing in oncogene-driven non-small-cell lung cancer patients with tyrosine kinase inhibitor resistance.
Zugazagoitia Jon et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 13472-78 -
The Society for Immunotherapy of Cancer consensus statement on immunotherapy for the treatment of squamous cell carcinoma of the head and neck (HNSCC).
Cohen Ezra E W et al. Journal for immunotherapy of cancer 2019 Jul 7(1) 184 -
iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL.
Hallek Michael et al. Blood 2018 131(25) 2745-2760 -
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui Tiziano et al. Leukemia 2018 32(5) 1057-1069 -
[Updates and interpretation on NCCN clinical practice guidelines for gastric cancer 2017 version 5].
Qiu Haibo et al. Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2018 Feb 21(2) 160-164 -
Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer.
Zhu Jason et al. Urologic oncology 2019 Jul -
Genomic profiling of blood-derived circulating tumor DNA from patients with colorectal cancer: Implications for response and resistance to targeted therapeutics.
Choi In Sil et al. Molecular cancer therapeutics 2019 Jul -
Liquid biopsy-based comprehensive gene mutation profiling for gynecological cancer using CAncer Personalized Profiling by deep Sequencing.
Iwahashi Naoyuki et al. Scientific reports 2019 Jul 9(1) 10426 -
Breast reconstruction after risk-reducing mastectomy in BRCA mutation carriers.
Nagura Naomi et al. Breast cancer (Tokyo, Japan) 2019 Jul -
Quick assessment of cell-free DNA in seminal fluid and fragment size for early non-invasive prostate cancer diagnosis.
Ponti Giovanni et al. Clinica chimica acta; international journal of clinical chemistry 2019 Jul -
The Oncotype Dx Assay in ER-Positive, HER2-Negative Breast Cancer Patients: A Real Life Experience from a Single Cancer Center.
Thibodeau Stephane et al. European journal of breast health 2019 Jul 15(3) 163-170
Chronic Disease
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Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis.
Ryan Marie et al. JAMA neurology 2019 Jul
Ethics/Policy/Law
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Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.
Amendola Laura M et al. Journal of genetic counseling 2019 Jul -
Attitudes Regarding Enrollment in a Genetic Research Project: An Informed Consent Simulation Study Comparing Views of People With Depression, Diabetes, and Neither Condition.
Kim Jane Paik et al. Journal of empirical research on human research ethics : JERHRE 2019 Jul 1556264619862467 -
Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
Yu Joon-Ho et al. Personalized medicine 2019 Jul -
Return of raw data in genomic testing and research: ownership, partnership, and risk-benefit.
May Thomas et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
Practice
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So What Does It Mean? Making Sense of Genetic Test Results.
Krokosky Alyson et al. Genetic testing and molecular biomarkers 2019 Jul
Heart, Lung, Blood and Sleep Diseases
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Prevalence, risk factor burden, and severity of coronary artery disease in patients with heterozygous familial hypercholesterolemia hospitalized for an acute myocardial infarction: Data from the French RICO survey.
Farnier Michel et al. Journal of clinical lipidology 2019 Jun -
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano Oscar et al. Journal of clinical medicine 2019 Jul 8(7) -
Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians.
Franciosi Alessandro N et al. The Lancet. Respiratory medicine 2019 Jul -
A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial.
van den Heuvel Lieke M et al. BMJ open 2019 Jul 9(7) e025660 -
The national blueprint for future basic and translational research to understand factor VIII immunogenicity: NHLBI State of the Science Workshop on factor VIII inhibitors.
Meeks Shannon L et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jul 25(4) 595-602 -
Using machine learning to predict one-year cardiovascular events in patients with severe dilated cardiomyopathy.
Chen Rui et al. European journal of radiology 2019 Aug 117178-183 -
No. 163-Gynaecological and Obstetric Management of Women With Inherited Bleeding Disorders.
Demers Christine et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Feb 40(2) e91-e103 -
Identifying Perceptions and Preferences of the General Public Concerning Universal Screening of Children for Familial Hypercholesterolaemia.
Bowman Faye L et al. Public health genomics 2019 Jul 1-11
Newborn Screening
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The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases.
Robinson Bruce H et al. International journal of neonatal screening 2019 Jun 5(2) -
Early Check: translational science at the intersection of public health and newborn screening.
Bailey Donald B et al. BMC pediatrics 2019 Jul 19(1) 238 -
Positive Newborn Screening for Cystic Fibrosis, What to Do Next?
Kumar Prawin et al. Indian journal of pediatrics 2019 Jul
Pharmacogenomics
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Ready or not, here it comes: Direct-to-consumer pharmacogenomic testing and its implications for community pharmacists.
Gammal Roseann S et al. Journal of the American Pharmacists Association : JAPhA 2019 Jul -
Genetic testing for prevention of severe drug-induced skin rash.
Alfirevic Ana et al. The Cochrane database of systematic reviews 2019 Jul 7CD010891 -
Use of Pharmacogenetic Drugs by the Dutch Population.
Alshabeeb Mohammad A et al. Frontiers in genetics 2019 10567 -
Inconsistency in race and ethnic classification in pharmacogenetics studies and its potential clinical implications.
Zhang Frederick et al. Pharmacogenomics and personalized medicine 2019 12107-123 -
Gene Variants at Loci Related to Blood Pressure Account for Variation in Response to Antihypertensive Drugs Between Black and White Individuals.
Iniesta Raquel et al. Hypertension (Dallas, Tex. : 1979) 2019 Jul HYPERTENSIONAHA11812177 -
Patient and Health Care Provider Needs and Preferences in Understanding Pharmacogenomic and Genomic Testing: A Meta-Data Analysis.
Veilleux Sophie et al. Qualitative health research 2019 Jul 1049732319858325
Reproductive Health
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Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Van Opstal Diane et al. Prenatal diagnosis 2019 Jul -
Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.
Thain Emily et al. Journal of genetic counseling 2019 Jul -
A Capabilities Approach to Prenatal Screening for Fetal Abnormalities.
Stapleton Greg et al. Health care analysis : HCA : journal of health philosophy and policy 2019 Jul -
The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13.
Zhen Li et al. Prenatal diagnosis 2019 Jul -
Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges.
Sciorio Romualdo et al. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019 Jul 1-6 -
Cell-free fetal DNA screening for detection of microdeletion syndromes: A cost-effectiveness analysis.
Avram Carmen M et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Jul 1-251 -
Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Ahangari Najmeh et al. Archives of gynecology and obstetrics 2019 Jul