Published on 01/23/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi Adela et al. Scientific reports 2020 Jan 10(1) 223
The impact of exome sequencing on diagnostic yield of muscular dystrophies in consanguineous families.
Dardas Zain et al. European journal of medical genetics 2020 Jan 103845
Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children.
Chen Wei-Ju et al. International journal of environmental research and public health 2020 Jan 17(2)
Demographics of a Large International Population of Patients Affected by Leber's Hereditary Optic Neuropathy.
Poincenot Lissa et al. Ophthalmology 2019 Nov
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus Anne et al. Epilepsia 2020 Jan
An efficient genetic test flow for multiple congenital anomaly and intellectual disability.
Yokoi Takayuki et al. Pediatrics international : official journal of the Japan Pediatric Society 2020 Jan
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?
Marquès Borja et al. Fetal diagnosis and therapy 2020 Jan 1-6
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.
Scala Marcello et al. Expert review of neurotherapeutics 2020 Jan
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese Michael et al. Orphanet journal of rare diseases 2020 Jan 15(1) 12
Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients.
Wong Serena et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 Jan
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Mavaddat Nasim et al. Breast cancer research : BCR 2020 Jan 22(1) 8
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
Escala-Garcia Maria et al. Nature communications 2020 Jan 11(1) 312
Detection of bladder cancer using urinary cell-free DNA and cellular DNA.
Ou Zhenyu et al. Clinical and translational medicine 2020 Jan 9(1) 4
Identification of Novel Pathogenic Sequence Variants of the Mismatch Repair Genes During Screening for Lynch Syndrome in a Single Centre of Eastern Hungary.
Kóder Gergely et al. Journal of gastrointestinal cancer 2020 Jan
Using Next generation Sequencing to Redefine BRCAness in Triple-Negative Breast Cancer.
Lin Po-Han et al. Cancer science 2020 Jan
Imaging-based definition of lower uterine segment carcinoma to improve the detection sensitivity of probable Lynch syndrome.
Yamazaki Hiroyuki et al. Japanese journal of clinical oncology 2020 Jan
Circulating cell-free DNA: Translating prostate cancer genomics into clinical care.
Gasi Tandefelt Delila et al. Molecular aspects of medicine 2020 Jan 100837
Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.
Zelli Veronica et al. High-throughput 2020 Jan 9(1)
Cost-Effectiveness of RAS Genetic Testing Strategies in Patients With Metastatic Colorectal Cancer: A Systematic Review.
Unim Brigid et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 Jan 23(1) 114-126
Standards-Based Clinical Decision Support Platform to Manage Patients Who Meet Guideline-Based Criteria for Genetic Evaluation of Familial Cancer.
Del Fiol Guilherme et al. JCO clinical cancer informatics 2020 Jan 41-9
Combining Bioinformatics and Experiments to Identify and Verify Key Genes with Prognostic Values in Endometrial Carcinoma.
Zhang Wenchao et al. Journal of Cancer 2020 11(3) 716-732
Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53.
Omran Meis et al. Hereditary cancer in clinical practice 2020 181
A 21‑gene Support Vector Machine classifier and a 10‑gene risk score system constructed for patients with gastric cancer.
Jiang Hui et al. Molecular medicine reports 2019 Nov
Sequential blinded treatment decisions in ALK-positive non-small cell lung cancers in the era of precision medicine.
Remon J et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2020 Jan
Parent and child perspectives on family interactions related to melanoma risk and prevention after CDKN2A/p16 testing of minor children.
Wu Yelena P et al. Journal of community genetics 2020 Jan
Utility of the immunohistochemical analysis of DNA mismatch-repair proteins in endometrial hyperplasia.
Missaoui Nabiha et al. Acta histochemica 2020 Jan 151505
A 13-gene risk score system and a nomogram survival model for predicting the prognosis of clear cell renal cell carcinoma.
Zhang Chao et al. Urologic oncology 2020 Jan
Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study.
Jahan Sadia et al. Orphanet journal of rare diseases 2020 Jan 15(1) 10
APOL1 Genotyping in Potential African American Living Kidney Donors: Utility and Cost-Effectiveness.
Gudsoorkar Prakash et al. American journal of nephrology 2020 Jan 1-3
Legal and Ethical Challenges of International Direct-to-Participant Genomic Research: Conclusions and Recommendations.
Rothstein Mark A et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2019 Dec 47(4) 705-731
Do patients and research subjects have a right to receive their genomic raw data? An ethical and legal analysis.
Schickhardt Christoph et al. BMC medical ethics 2020 Jan 21(1) 7
The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review.
Aghamir Seyed Mohammad Kazem et al. Advanced journal of emergency medicine 2020 4(1) e10
Heart, Lung, Blood and Sleep Diseases
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.
Noor Farjana Akther et al. Orphanet journal of rare diseases 2020 Jan 15(1) 15
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
Ramchand Jay et al. Journal of the American Heart Association 2020 Jan 9(2) e013346
Cost-Effectiveness of Multigene Pharmacogenetic Testing in Patients With Acute Coronary Syndrome After Percutaneous Coronary Intervention.
Dong Olivia M et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 Jan 23(1) 61-73
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Di Taranto Maria Donata et al. Journal of clinical medicine 2020 Jan 9(1)
Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.
Vats Pallavi et al. Indian pediatrics 2020 Jan 57(1) 49-55
Newborn screening for Fabry disease in the western region of Japan.
Sawada Takaaki et al. Molecular genetics and metabolism reports 2020 Mar 22100562
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies M M et al. Molecular genetics and metabolism 2020 Jan
Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of Big Data.
Primorac Dragan et al. Pharmacogenomics 2020 Jan 21(2) 141-156
Current state assessment survey of challenges of pharmacogenomics within oncology pharmacy practice.
Przybylski Daniel J et al. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2020 Jan 1078155219896395
"It's probably nothing, but…" Couples' experiences of pregnancy following a uncertain prenatal genetic result.
Lou Stina et al. Acta obstetricia et gynecologica Scandinavica 2020 Jan
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
Sato Takeshi et al. Human reproduction (Oxford, England) 2020 Jan