Published on 04/02/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
[Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].
Zhang Yinhong et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Apr 37(4) 384-388
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
Butz Henriett et al. Human genetics 2020 Mar
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors.
Looijenga Leendert H J et al. The American journal of surgical pathology 2020 Mar
Prognostic value and therapeutic implications of expanded molecular testing for resected early stage lung adenocarcinoma.
Kneuertz Peter J et al. Lung cancer (Amsterdam, Netherlands) 2020 Mar 14360-66
Assessing the impact of the 2018 American Society of Clinical Oncology/College of American Pathologists recommendations on human epidermal growth factor receptor 2 testing by fluorescence in situ hybridization in breast carcinoma.
Murray Ciara et al. Virchows Archiv : an international journal of pathology 2020 Mar 476(3) 367-372
Comparison of commonly used solid tumor targeted gene sequencing panels for estimating tumor mutation burden shows analytical and prognostic concordance within the cancer genome atlas cohort.
Bevins Nicholas et al. Journal for immunotherapy of cancer 2020 Mar 8(1)
Prognostic and predictive impact of genetic markers in patients with CLL treated with obinutuzumab and venetoclax.
Tausch Eugen et al. Blood 2020 Mar
Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome.
Kokorovic Andrea et al. Canadian Urological Association journal = Journal de l'Association des urologues du Canada 2020 Mar
Prospective Evaluation of Universal BRCA Testing for Women With Triple-Negative Breast Cancer.
Emborgo Trisha S et al. JNCI cancer spectrum 2020 Apr 4(2) pkaa002
Ethnic disparities in the frequency of cancer reported in family histories.
Maves Heather et al. Journal of genetic counseling 2020 Mar
Public perception of predictive cancer genetic testing and research in Oregon.
Alvord Teala W et al. Journal of genetic counseling 2020 Mar
Prognostic value of immune-related genes in the tumor microenvironment of lung adenocarcinoma and lung squamous cell carcinoma.
Qu Yan et al. Aging 2020 Mar 12
Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment.
Christensen Kurt D et al. Alzheimer's & dementia (New York, N. Y.) 2020 6(1) e12002
Governing the futures of non-invasive prenatal testing: An exploration of social acceptability using the Delphi method.
Dupras Charles et al. Social science & medicine (1982) 2020 Mar 112930
Participatory design of a personalized genetic risk tool to promote behavioral health.
Ramsey Alex T et al. Cancer prevention research (Philadelphia, Pa.) 2020 Mar
A Framework for Advancing Precision Medicine in Clinical Trials for Mental Disorders.
Lenze Eric J et al. JAMA psychiatry 2020 Mar
Heart, Lung, Blood and Sleep Diseases
Incorporation of genetic testing significantly increases the number of individuals diagnosed with familial hypercholesterolemia.
Brown Emily E et al. Journal of clinical lipidology 2020 Mar
Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels.
Bianconi Vanessa et al. Trends in cardiovascular medicine 2020 Mar
Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening.
Schwiter Rachel et al. Journal of genetic counseling 2020 Mar
Creation and utility of 'Boston Minority Genetic Counselors'.
Berro Tala et al. Journal of genetic counseling 2020 Mar
When do athletes benefit from cardiac genetic testing?
Semsarian Christopher et al. British journal of sports medicine 2020 Mar
Concurrent hearing and genetic screening in a general newborn population.
Guo Ling et al. Human genetics 2020 Apr 139(4) 521-530
Identification of populations likely to benefit from pharmacogenomic testing.
Heise Craig William et al. Pharmacogenetics and genomics 2020 Mar
Physicians' Attitudes and Ethical Obligations to Pharmacogenetic Testing.
Muflih Suhaib et al. Journal of multidisciplinary healthcare 2020 13249-258
Genetic testing in male infertility - reassessing screening thresholds.
Liu James L et al. Current opinion in urology 2020 May 30(3) 317-323
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
et al. Obstetrics and gynecology 2020 Apr 135(4) 987-988
Pre-implantation genetic testing alters the sex ratio: an analysis of 91,805 embryo transfer cycles.
Shaia Kathryn et al. Journal of assisted reproduction and genetics 2020 Mar