Published on 12/05/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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)
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
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
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
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
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
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
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