Published on 07/11/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Severe Combined Immunodeficiency: A Review for Neonatal Clinicians.
Michniacki Thomas F et al. NeoReviews 2019 Jun 20(6) e326-e335 -
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
Borlot Felippe et al. Epilepsia 2019 Jul -
Navigating Newborn Screening in the NICU: A User's Guide.
Kronn David et al. NeoReviews 2019 May 20(5) e280-e291 -
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses.
Wu En-Ting et al. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2019 Jul -
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.
Yaghootkar H et al. Diabetic medicine : a journal of the British Diabetic Association 2019 Jul -
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau Ania C et al. Molecular genetics and metabolism 2019 127(1) 1-11 -
Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies.
Ali Mohamed A M et al. Biochemical genetics 2019 Jul
Cancer
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Genetic testing for hereditary breast and ovarian cancer and the USPSTF recommendations.
Wood Marie E et al. The breast journal 2019 Jul 25(4) 575-577 -
Prospective Validation of a Genomic Assay in Breast Cancer: The 70-gene MammaPrint Assay and the MINDACT Trial.
Audeh William et al. Acta medica academica 2019 Apr 48(1) 18-34 -
Determining Onset for Familial Breast and Colorectal Cancer from Family History Comments in the Electronic Health Record.
Mowery Danielle L et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2019 2019173-181 -
Treating HR+/HER2- breast cancer in premenopausal Asian women: Asian Breast Cancer Cooperative Group 2019 Consensus and position on ovarian suppression.
Yeo Winnie et al. Breast cancer research and treatment 2019 Jul -
Should We Screen Oncotype DX Eligible Patients With Breast MRI?
Patel Sejal et al. Current problems in diagnostic radiology 2019 Jun -
Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer: a systematic review and economic analysis.
Harnan Sue et al. Health technology assessment (Winchester, England) 2019 Jun 23(30) 1-328 -
Population-based relative risks for specific family history constellations of breast cancer.
Albright Frederick S et al. Cancer causes & control : CCC 2019 Jun 30(6) 581-590 -
Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population.
Hernández-Pedro Norma et al. Salud publica de Mexico 61(3) 308-317 -
Identifying disparities in germline and somatic testing for ovarian cancer.
Huang Marilyn et al. Gynecologic oncology 2019 153(2) 297-303 -
Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
Suszynska Malwina et al. Gynecologic oncology 2019 153(2) 452-462 -
Willingness to decrease mammogram frequency among women at low risk for hereditary breast cancer.
Guan Yue et al. Scientific reports 2019 Jul 9(1) 9599 -
Factors associated with genetic testing in a cohort of breast cancer survivors.
Blaes Anne H et al. The breast journal 2019 Jul -
MAGENTA (Making Genetic testing accessible): a prospective randomized controlled trial comparing online genetic education and telephone genetic counseling for hereditary cancer genetic testing.
Rayes Nadine et al. BMC cancer 2019 Jul 19(1) 648 -
Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics.
Hamilton Jada G et al. The Hastings Center report 2019 May 49 Suppl 1S44-S52 -
Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up.
Blok F et al. Gynecologic oncology 2019 153(2) 326-334 -
Fifteen-year survival of invasive epithelial ovarian cancer in women with BRCA1/2 mutations - the National Israeli Study of Ovarian Cancer.
Lavie Ofer et al. Gynecologic oncology 2019 153(2) 320-325 -
A 17-marker panel for global genomic instability in breast cancer.
Biermann Jana et al. Genomics 2019 Jun -
Comprehensive genomic profiling of recurrent endometrial cancer: Implications for selection of systemic therapy.
Prendergast Emily N et al. Gynecologic oncology 2019 Jun -
Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome.
Hitchins Megan P et al. BMJ open gastroenterology 2019 6(1) e000299 -
ESMO-ESGO consensus conference recommendations on ovarian cancer: pathology and molecular biology, early and advanced stages, borderline tumours and recurrent disease.
Colombo N et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 May -
NCCN Guidelines Updates: New Immunotherapy Strategies for Improving Outcomes in Non-Small Cell Lung Cancer.
Gubens Matthew A et al. Journal of the National Comprehensive Cancer Network : JNCCN 2019 May 17(5.5) 574-578 -
Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men.
Chandrasekar Thenappan et al. European urology oncology 2019 Jul -
Risk-reducing surgery in BRCA1/BRCA2 mutation carriers: are there factors associated with the choice?
Manoukian Siranoush et al. Psycho-oncology 2019 Jul -
Access to Personal Health Records and Screening for Breast and Cervical Cancer Among Women with a Family History of Cancer.
Kim Hyunmin et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Jul -
Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.
Lokhandwala Parvez M et al. BMC cancer 2019 Jul 19(1) 665
Chronic Disease
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Genetic Testing to Predict Weight Loss and Diabetes Remission and Long-Term Sustainability after Bariatric Surgery: A Pilot Study.
Ciudin Andreea et al. Journal of clinical medicine 2019 Jul 8(7) -
Diagnostic yield of next-generation sequencing applied to neurological disorders.
Marques Matos Cláudia et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Jul -
A Clinician's Guide to Celiac Disease HLA Genetics.
Brown Nicholas K et al. The American journal of gastroenterology 2019 Jul -
Machine learning approaches to predict lupus disease activity from gene expression data.
Kegerreis Brian et al. Scientific reports 2019 Jul 9(1) 9617
Ethics/Policy/Law
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A Review of African Americans' Beliefs and Attitudes About Genomic Studies: Opportunities for Message Design.
Scherr Courtney L et al. Frontiers in genetics 2019 10548 -
Implementing the FAIR Data Principles in precision oncology: review of supporting initiatives.
Vesteghem Charles et al. Briefings in bioinformatics 2019 Jun -
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.
Houdayer F et al. European journal of medical genetics 2019 Jun 103711 -
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan.
Taguchi Iku et al. Journal of human genetics 2019 Jul
Practice
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Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.
Unim Brigid et al. Frontiers in genetics 2019 10552 -
What Is the Psychosocial Impact of Providing Genetic and Genomic Health Information to Individuals? An Overview of Systematic Reviews.
Wade Christopher H et al. The Hastings Center report 2019 May 49 Suppl 1S88-S96 -
Assessing the Psychological Impact of Genetic Susceptibility Testing.
Roberts J Scott et al. The Hastings Center report 2019 May 49 Suppl 1S38-S43 -
On What We Have Learned and Still Need to Learn about the Psychosocial Impacts of Genetic Testing.
Parens Erik et al. The Hastings Center report 2019 May 49 Suppl 1S2-S9 -
Applying theory to characterize impediments to dissemination of community-facing family health history tools: a review of the literature.
Allen Caitlin G et al. Journal of community genetics 2019 Jul -
Access to Genetic Counselors in the Southern United States.
Villegas Catalina et al. Journal of personalized medicine 2019 Jul 9(3)
Heart, Lung, Blood and Sleep Diseases
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Hereditary angioedema: Screening of first-degree blood relatives and earlier diagnosis.
Valle Solange O R et al. Allergy and asthma proceedings 2019 Jul 40(4) 279-281 -
Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review.
Hendricks-Sturrup Rachele M et al. Journal of personalized medicine 2019 Jul 9(3) -
Economic evaluation of lipid lowering with PCSK9 inhibitors in patients with familial hypercholesterolemia: Methodological aspects.
Wisløff Torbjørn et al. Atherosclerosis 2019 Jun 287140-146 -
Curative Therapies for Sickle Cell Disease.
Khemani Kirshma et al. The Ochsner journal 2019 19(2) 131-137 -
Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.
Patel Prashant et al. Journal of the American Heart Association 2019 Jul 8(13) e011822 -
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.
Mangaonkar Abhishek A et al. Mayo Clinic proceedings 2019 Jun -
Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding.
Almazni Ibrahim et al. Frontiers in cardiovascular medicine 2019 680 -
Draft Recommendation Statement: Abdominal Aortic Aneurysm: Screening,
U.S. Preventive Services, June 2019 -
Interventions for treating neuropathic pain in people with sickle cell disease.
Asnani Monika R et al. The Cochrane database of systematic reviews 2019 Jul 7CD012943 -
Development of a motivational interviewing genetic counseling intervention to increase cascade cholesterol screening in families of children with familial hypercholesterolemia.
Kruger Valerie et al. Journal of genetic counseling 2019 Jul -
Precision Medicine for Lung Diseases: A National Heart, Lung, and Blood Institute Perspective.
Croxton Thomas et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019 Jul
Newborn Screening
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Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo Christine et al. International journal of audiology 2019 Jul 1-17 -
False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease.
Lumertz Magali Santos et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2019 Jun 45(3) e20180062
Reproductive Health
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The relationship between the percent of euploid embryo and the tolerance of embryo biopsy in preimplantation genetic screening: A systematic review and meta-analysis of randomized controlled trials.
Jiang Xinglu et al. Medicine 2019 Jun 98(25) e15968 -
The Psychological Well-being of Pregnant Women Undergoing Prenatal Testing and Screening: A Narrative Literature Review.
Biesecker Barbara B et al. The Hastings Center report 2019 May 49 Suppl 1S53-S60 -
Early second-trimester plasma cell free DNA levels with subsequent risk of pregnancy complications.
Yuan Xiaosong et al. Clinical biochemistry 2019 Jul -
Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable.
Werner-Lin Allison et al. The Hastings Center report 2019 May 49 Suppl 1S61-S71 -
Risk Estimation of Uniparental Disomy of Chromosome 14 or 15 in a Fetus with a Parent Carrying a Non-Homologous Robertsonian Translocation. Should We Still Perform Prenatal Diagnosis?
Moradkhani Kamran et al. Prenatal diagnosis 2019 Jul