Published on 12/05/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy.
Zhao Mingjue et al. Frontiers in genetics 2019 101105 -
X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.
Turk Bela R et al. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 Nov
Cancer
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Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793.
et al. Obstetrics and gynecology 2019 Dec 134(6) e143-e149 -
Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as potential diagnostic biomarkers for gastric cancer.
Liu Wenwen et al. Pathology, research and practice 2019 Nov 152757 -
Clinical Utility of a Genomic Classifier in Men Undergoing Radical Prostatectomy: The PRO-IMPACT Trial.
Gore John L et al. Practical radiation oncology 2019 Nov -
Hereditary prostate cancer - Primetime for genetic testing?
Heidegger Isabel et al. Cancer treatment reviews 2019 Dec 81101927 -
A four-gene expression-based signature predicts the clinical outcome of melanoma.
Sun Liping et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 24(5) 2161-2167 -
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Houlleberghs Hellen et al. Journal of medical genetics 2019 Nov -
Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
Dutil Julie et al. Scientific reports 2019 Nov 9(1) 17769 -
Combined genetic mutations and DNA-methylated genes as biomarkers for endometrial cancer detection from cervical scrapings.
Liew Phui-Ly et al. Clinical epigenetics 2019 Nov 11(1) 170 -
Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
Rodríguez-Balada Marta et al. Clinical biochemistry 2019 Nov -
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
Monahan Kevin J et al. Gut 2019 Nov -
Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course.
Takaya Hisamitsu et al. Gynecologic oncology 2019 Nov -
Lynch syndrome-related non-endometrioid endometrial cancer: analysis of outcomes.
Bogani Giorgio et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov -
'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
Medendorp Niki M et al. Familial cancer 2019 Nov -
Significance of RAS mutations in pulmonary metastases of patients with colorectal cancer.
Igarashi Takamichi et al. International journal of clinical oncology 2019 Nov -
Multitarget Stool DNA Test Performance in an Average-Risk Colorectal Cancer Screening Population.
Bosch L J W et al. The American journal of gastroenterology 2019 Nov -
Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing.
Chun You Jin et al. PloS one 2019 14(11) e0224379 -
Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
Griffin Natalie E et al. Gynecologic oncology 2019 Nov -
Clinical Utility of Ghrelin-O-Acyltransferase (GOAT) Enzyme as a Diagnostic Tool and Potential Therapeutic Target in Prostate Cancer.
Jiménez-Vacas Juan M et al. Journal of clinical medicine 2019 Nov 8(12)
Chronic Disease
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Genetic testing for Alzheimer's disease: trends, challenges and ethical considerations.
Rentería Miguel E et al. Current opinion in psychiatry 2019 Nov -
Current and future advances in genetic testing in systemic autoinflammatory diseases.
Schnappauf Oskar et al. Rheumatology (Oxford, England) 2019 Nov 58(Supplement_6) vi44-vi55
Ethics/Policy/Law
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Should doctors have a legal duty to warn relatives of their genetic risks?
Middleton Anna et al. Lancet (London, England) 2019 Nov -
Safeguarding Participants in Psychiatric Genetic Research: Perspectives of Key Stakeholder Groups.
Rostami Maryam et al. Ethics & human research 2019 Nov 41(6) 12-22
Practice
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The Influence of Family Communication Patterns on the Processing of Messages to Increase Family Health History Seeking Intentions.
Hovick Shelly R et al. Health communication 2019 Nov 1-9 -
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy Dona M et al. Genome medicine 2019 Nov 11(1) 77 -
Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.
De Suchetana et al. Public health genomics 2019 Nov 1-12 -
Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach.
Nisselle Amy et al. Frontiers in genetics 2019 101057 -
Scoping the Scene: What Do Nurses, Midwives, and Allied Health Professionals Need and Want to Know About Genomics?
Saleh Mona et al. Frontiers in genetics 2019 101066 -
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.
McGrath Scott P et al. BMC health services research 2019 Nov 19(1) 844
Heart, Lung, Blood and Sleep Diseases
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Differentiating Familial Chylomicronemia Syndrome From Multifactorial Severe Hypertriglyceridemia by Clinical Profiles.
O'Dea Louis St L et al. Journal of the Endocrine Society 2019 Dec 3(12) 2397-2410 -
Sickle cell disease and thalassaemia antenatal screening programme in England over 10 years: a review from 2007/2008 to 2016/2017.
Weil Leonora G et al. Journal of clinical pathology 2019 Nov -
Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.
Wand Hannah et al. Journal of genetic counseling 2019 Nov
Newborn Screening
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When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines.
Hendricks-Sturrup Rachele M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov -
Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
Schlüter Daniela K et al. Thorax 2019 Nov -
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438
Pharmacogenomics
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Toward Personalized Medicine Implementation: Survey of Military Medicine Providers in the Area of Pharmacogenomics.
DeLuca Jesse et al. Military medicine 2019 Dec -
Prevention of Potential Adverse Metabolic Effects of a Supplementation with Omega-3 Fatty Acids Using a Genetic Score Approach.
Franck Maximilien et al. Lifestyle genomics 2019 Nov 1-11 -
CYP2D6*10 pharmacogenetic-guided SERM could be a cost-effective strategy in Chinese patients with hormone receptor-positive breast cancer.
Wei Xiaoxia et al. Pharmacogenomics 2019 Nov
Reproductive Health
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International perspectives on the implementation of reproductive carrier screening.
Delatycki Martin B et al. Prenatal diagnosis 2019 Nov -
Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics?
Leaver Megan et al. Human reproduction update 2019 Nov -
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Vossaert Liesbeth et al. American journal of human genetics 2019 Nov