Published on 04/09/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson Katherine A et al. European journal of human genetics : EJHG 2020 Apr
Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.
Kotwal Huafrin et al. Journal of genetic counseling 2020 Apr
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim Tae Hyeong et al. European journal of medical genetics 2020 Mar 103921
Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung Nadine M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Apr JCO2000299
Calculating Starting Age for Screening in Relatives of Patients With Colorectal Cancer Based on Data From Large Nationwide Datasets.
Tian Yu et al. Gastroenterology 2020 Apr
Pembrolizumab for management of patients with NSCLC and brain metastases: long-term results and biomarker analysis from a non-randomised, open-label, phase 2 trial.
Goldberg Sarah B et al. The Lancet. Oncology 2020 Apr
Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer.
Lamba Mehul et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 Mar
Molecular risk prediction in cutaneous melanoma: a meta-analysis of the 31-gene expression profile prognostic test in 1,479 patients.
Greenhaw Bradley N et al. Journal of the American Academy of Dermatology 2020 Mar
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
Engel Christoph et al. International journal of cancer 2020 146(4) 999-1009
A Nine-Gene Signature for Predicting the Response to Preoperative Chemoradiotherapy in Patients with Locally Advanced Rectal Cancer.
Park In Ja et al. Cancers 2020 Mar 12(4)
Blood Free-Circulating DNA Testing of Methylated RUNX3 Is Useful for Diagnosing Early Gastric Cancer.
Hideura Eizaburou et al. Cancers 2020 Mar 12(4)
Circulating tumour DNA alterations as biomarkers for head and neck cancer: a systematic review.
Pall Amalie Hartvig et al. Acta oncologica (Stockholm, Sweden) 2020 Mar 1-6
An integrated prognosis model of pharmacogenomic gene signature and clinical information for diffuse large B-cell lymphoma patients following CHOP-like chemotherapy.
Hu Jinglei et al. Journal of translational medicine 2020 Mar 18(1) 144
Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
Roberts Maegan E et al. Journal of genetic counseling 2020 Mar
Expression and prognostic value of mRNAs in lower grade glioma with MGMT promoter methylated.
Wang Wen et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020 Mar
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
Oriolo C et al. Journal of endocrinological investigation 2020 Mar
Understanding Participation in Genetic Research Among Patients With Multiple Sclerosis: The Influences of Ethnicity, Gender, Education, and Age.
Cuccaro Michael L et al. Frontiers in genetics 2020 11120
From Polygenic Scores to Precision Medicine in Alzheimer's Disease: A Systematic Review.
Harrison Judith R et al. Journal of Alzheimer's disease : JAD 2020 Mar
Attitudes towards genetic testing and information: does parenthood shape the views?
Saastamoinen Antti et al. Journal of community genetics 2020 Apr
Enhancing inclusion of diverse populations in genomics: A competence framework.
Sharif Saghira M et al. Journal of genetic counseling 2020 Apr 29(2) 282-292
Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.
Torrorey-Sawe Rispah et al. Frontiers in genetics 2020 11170
Framing utility: Regulatory reform and genetic tests in the USA, 1989-2000.
Sturdy Steve et al. Social science & medicine (1982) 2020 Mar 112924
Payer Preferences and Willingness to Pay for Genomic Precision Medicine: A Discrete Choice Experiment.
Dhanda Devender S et al. Journal of managed care & specialty pharmacy 2020 Apr 26(4) 529-537
Efforts of diversity and inclusion, cultural competency, and equity in the genetic counseling profession: A snapshot and reflection.
Channaoui Nadine et al. Journal of genetic counseling 2020 Apr 29(2) 166-181
Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.
Channaoui Nadine et al. Journal of genetic counseling 2020 Apr 29(2) 192-201
Electronic health records and polygenic risk scores for predicting disease risk.
Li Ruowang et al. Nature reviews. Genetics 2020 Mar
Genomics knowledge and attitudes among European public health professionals: Results of a cross-sectional survey.
Rosso Annalisa et al. PloS one 2020 15(4) e0230749
Assessing the availability and quality of Spanish-language genetic resources for patients on the internet.
Westrate Libby et al. Journal of genetic counseling 2020 Mar
Heart, Lung, Blood and Sleep Diseases
Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants.
Villarreal-Martínez Laura et al. Blood cells, molecules & diseases 2020 Mar 83102423
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir Zeynep H et al. American journal of medical genetics. Part A 2020 Mar
Genetic testing in Polynesian Long QT Syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.
Winbo Annika et al. Heart rhythm 2020 Mar
The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine.
Januska Megan N et al. Journal of genetic counseling 2020 Mar
Is family history of coronary artery disease important in the emergency department triage?
Mor Saban et al. International emergency nursing 2020 Mar 100855
Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.
Sontag Marci K et al. PloS one 2020 15(4) e0231050
Assessing the newborn screening education needs of families living in medically underserved areas.
Evans Adrianna et al. Journal of genetic counseling 2020 Mar
Pharmacogenomic-Based Decision-Support to Predict Adherence to Medications.
Christian Carlton et al. Clinical pharmacology and therapeutics 2020 Mar
Pharmacogenomics of Antidepressant and Antipsychotic Treatment: How Far Have We Got and Where Are We Going?
van Westrhenen Roos et al. Frontiers in psychiatry 2020 1194
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar Sylvan M et al. International journal of molecular sciences 2020 Mar 21(7)
A Continuing Professional Development Program for Pharmacists Implementing Pharmacogenomics into Practice.
Crown Natalie et al. Pharmacy (Basel, Switzerland) 2020 Mar 8(2)
Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.
Rocca Maria Santa et al. Journal of assisted reproduction and genetics 2020 Apr