Published on 07/15/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel Mayher J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: a retrospective single-site study.
Felice Kevin J et al. Muscle & nerve 2021 -
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Kamil Gilyazetdinov et al. Orphanet journal of rare diseases 2021 16(1) 297 -
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Aleksandra Szczawinska-Poplonyk et al. Allergologia et immunopathologia 2021 49(4) 117-136 -
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Scholz Tasja et al. Neonatology 2021 1-8
Cancer Genomics
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Genomic analyses of high-grade neuroendocrine gynecological malignancies reveal a unique mutational landscape and therapeutic vulnerabilities.
Mahdi Haider et al. Molecular oncology 2021 -
Reliable Detection of Somatic Mutations for Pancreatic Cancer in Endoscopic Ultrasonography-Guided Fine Needle Aspirates with Next-Generation Sequencing: Implications from a Prospective Cohort Study.
Habib Joseph R et al. Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2021 -
Discordance in Oncotype DX Breast Recurrence Score Results for Bilateral Breast Cancer.
Bloom Joshua A et al. Annals of surgical oncology 2021
Hereditary Cancer
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Risk of colorectal adenomas and cancer in monoallelic carriers of MUTYH pathogenic variants: a single-centre experience.
Patel R et al. International journal of colorectal disease 2021 -
Sharing genetic test results of germline pathogenic variants of hereditary cancer with relatives: A single-center cross-sectional study.
Fukuzaki Naomi et al. Japanese journal of clinical oncology 2021 -
Patient reported outcome measures in a cohort of patients at high risk of breast cancer treated by bilateral risk reducing mastectomy and breast reconstruction.
Gandhi A et al. Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2021 -
Value of whole-genome sequencing to Australian cancer patients and their first-degree relatives participating in a genomic sequencing study.
Butow Phyllis et al. Journal of genetic counseling 2021 -
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program.
Braley Eryn F et al. Familial cancer 2021 -
Influence of payer coverage and out-of-pocket costs on ordering of NGS panel tests for hereditary cancer in diverse settings.
Lin Grace A et al. Journal of genetic counseling 2021 -
Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
Gregory Gillian et al. Journal of genetic counseling 2021 -
Paired Tumor-Normal Sequencing Provides Insights into TP53-Related Cancer Spectrum in Li-Fraumeni Patients.
Ceyhan-Birsoy Ozge et al. Journal of the National Cancer Institute 2021 -
Performance of the IBIS/Tyrer-Cuzick model of breast cancer risk by race and ethnicity in the Women's Health Initiative.
Kurian Allison W et al. Cancer 2021
Chronic Disease
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Neurodevelopment regulators miR-137 and miR-34 family as biomarkers for early and adult onset schizophrenia.
Chen Bao-Yu et al. NPJ schizophrenia 2021 7(1) 35
Ethics/Policy/Law
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Legal terms of use and public genealogy websites.
Contreras Jorge L et al. Journal of law and the biosciences 2021 7(1) lsaa063 -
Practices and Attitudes toward Returning Genomic Research Results to Low-Resource Research Participants.
Raymond Megan B et al. Public health genomics 2021 1-12 -
Genetic discrimination: emerging ethical challenges in the context of advancing technology.
Chapman Carolyn Riley et al. Journal of law and the biosciences 2019 7(1) lsz016 -
What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing?
Henrikson Nora B et al. Journal of law and the biosciences 2021 7(1) lsaa071
Practice
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A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows:A Report of the Association for Molecular Pathology Training and Education Committee.
Rosenbaum Jason N et al. The Journal of molecular diagnostics : JMD 2021 -
Disclosure of genetic information to family members: a systematic review of normative documents.
Phillips Amicia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
The evolution of genetic counseling graduate education in New York city during the COVID-19 pandemic: In the eye of the storm.
Bergner Amanda L et al. Journal of genetic counseling 2021 -
A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting.
Khalifa Aly et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Measuring physician practice, preparedness and preferences for genomic medicine: a national survey.
Nisselle Amy et al. BMJ open 2021 11(7) e044408 -
Measuring Attitudes About Genomic Medicine: Validation of the Genomic Orientation Scale (GO Scale).
Horrow Caroline et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2021 24(7) 1030-1037 -
Has translational genomics come of age in Africa?
Kamp Michelle et al. Human molecular genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Cost-effectiveness analysis of screening for first-degree relatives of patients with bicuspid aortic valve.
Tessler Idit et al. European heart journal. Quality of care & clinical outcomes 2021 -
Treatment Inertia in Patients With Familial Hypercholesterolemia.
Langer Anatoly et al. Journal of the American Heart Association 2021 e020126 -
Management of Congenital Long-QT Syndrome: Commentary From the Experts.
Kaufman Elizabeth S et al. Circulation. Arrhythmia and electrophysiology 2021 CIRCEP120009726
Pharmacogenomics
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Prototype Development and Usability Evaluation of a Clinical Decision Support Tool for Pharmacogenomic Pharmacy in Practice.
Baker Elizabeth White et al. Computers, informatics, nursing : CIN 2021 39(7) 362-366 -
How to Integrate CYP2D6 Phenoconversion into Clinical Pharmacogenetics: A Tutorial.
Cicali Emily J et al. Clinical pharmacology and therapeutics 2021 -
A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy.
Hippman Catriona et al. Archives of women's mental health 2021 -
Effects of Aging on Clinical Outcomes in Patients Receiving Genotype-Guided P2Y12 Inhibitor Selection after Percutaneous Coronary Intervention.
Wood Brian et al. Pharmacotherapy 2021
Reproductive Health
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Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?
Liehr Thomas et al. Frontiers in genetics 2021 12682980 -
Exploring genetic counselors' use of pedigree symbols to represent assisted reproductive technology.
Lepard Tassin Tiffany et al. Journal of genetic counseling 2021 -
First trimester screening with biochemical markers and ultrasound in relation to non-invasive prenatal testing (NIPT).
Scharf Alexander et al. Journal of perinatal medicine 2021 -
Cost-effectiveness of preimplantation genetic testing for aneuploidy for fresh donor oocyte cycles.
Facadio Antero Maria et al. F&S reports 2021 2(1) 36-42 -
Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive-age persons seeking gynecologic care at a single U.S. academic medical center.
Nesbit Carleigh B et al. Journal of genetic counseling 2021 -
Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies.
Snider Alyssa C et al. F&S reports 2021 2(1) 80-87 -
Consistency in rates of diagnosis of embryonic mosaicism, segmental abnormalities, and "no call" results among experienced embryologists performing preimplantation genetic testing for aneuploidy.
Osman Emily K et al. F&S reports 2021 1(2) 119-124 -
In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing.
Bartels Chantal B et al. F&S reports 2021 1(3) 249-256