Published on 02/17/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.
Öztürk Kübra et al. Frontiers in pediatrics 2022 9805919 -
AAV gene therapy for Tay-Sachs disease.
Flotte Terence R et al. Nature medicine 2022 -
Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.
Iyer Gayatri R et al. Journal of orthopaedic surgery and research 2022 17(1) 76 -
Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.
Sanford Kobayashi Erica et al. Frontiers in pediatrics 2022 9809536 -
Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists.
Merker Vanessa L et al. Orphanet journal of rare diseases 2022 17(1) 44 -
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study.
Sun Yu et al. Human mutation 2022 -
Seasonal variation of lung function in cystic fibrosis: longitudinal modeling to compare a Midwest US cohort to international populations.
Gecili Emrah et al. The Science of the total environment 2022 776 -
Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases.
McGuinness Myra B et al. Translational vision science & technology 2022 11(2) 14 -
Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations.
Suzuki Hisato et al. The Journal of pediatrics 2022 -
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter Samantha M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries.
Blonda Alessandra et al. Frontiers in pharmacology 2022 12750742
Cancer Genomics
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Next-generation Sequencing of Cerebrospinal Fluid for Clinical Molecular Diagnostics in Pediatric, Adolescent and Young Adult (AYA) Brain Tumor Patients.
Miller Alexandra M et al. Neuro-oncology 2022 -
Potential diagnostic and prognostic value of the long non-coding RNA SNHG3 in human cancers: A systematic review and meta-analysis.
Wang Dingting et al. The International journal of biological markers 2022 3936155221077121 -
Clinical outcomes and Oncotype DX Breast Recurrence Score® in early-stage BRCA-associated hormone receptor-positive breast cancer.
Layman Rachel M et al. Cancer medicine 2022 -
Tumour genotypes account for survival differences in right- and left-sided colon cancers.
Ward Thomas M et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2022 -
Racial and Ethnic Differences in Genomic Profiling of Early-Onset Colorectal Cancer.
Hein David M et al. Journal of the National Cancer Institute 2022 -
Adjuvant chemotherapy in patients with invasive lobular carcinoma and use of the 21-gene recurrence score: A National Cancer Database analysis.
Weiser Roi et al. Cancer 2022 -
KLK3 germline mutation I179T complements DNA repair genes for predicting prostate cancer progression.
Xu Jianfeng et al. Prostate cancer and prostatic diseases 2022
Hereditary Cancer
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Germline variant testing in Serrated Polyposis Syndrome.
Murphy Aisling et al. Journal of gastroenterology and hepatology 2022 -
BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: looking for the hidden meaning.
Fanale Daniele et al. Critical reviews in oncology/hematology 2022 103626 -
Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE.
Jantzen Rodolphe et al. Preventive medicine reports 2022 25101678 -
Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients in the United States.
Venier Rosemarie E et al. Journal of genetic counseling 2022 -
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system.
Muessig Kristin R et al. Hereditary cancer in clinical practice 2022 20(1) 7 -
Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort.
Schiabor Barrett Kelly M et al. HGG advances 2022 3(2) 100086
Chronic Disease
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Genetics and familial distribution of multiple sclerosis: A review.
Balcerac A et al. Revue neurologique 2022 -
A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.
Jones Tara A et al. Journal of assisted reproduction and genetics 2022
Ethics/Policy/Law
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Attitudes of healthy volunteers to genetic testing in phase 1 clinical trials.
Levesque Sebastian et al. F1000Research 2022 10259 -
Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands.
Bos Wendy et al. Molecular genetics & genomic medicine 2022 e1882 -
Ethical Considerations for Gene Drive: Challenges of Balancing Inclusion, Power and Perspectives.
Kormos Ana et al. Frontiers in bioengineering and biotechnology 2022 10826727 -
Heritable genome editing and cognitive biases: why broad societal consensus is the wrong standard for moving forward.
Macintosh Kerry Lynn et al. Journal of law and the biosciences 2022 9(1) lsac002 -
A roadmap to increase diversity in genomic studies.
Fatumo Segun et al. Nature medicine 2022
Practice
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The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing.
Cheung Faith et al. Journal of genetic counseling 2022 -
International federation of genomic medicine databases using GA4GH standards.
Thorogood Adrian et al. Cell genomics 2022 1(2) -
Non-Invasive microRNA Profiling in Saliva can Serve as a Biomarker of Alcohol Exposure and Its Effects in Humans.
Mead Edward A et al. Frontiers in genetics 2022 12804222
Heart, Lung, Blood and Sleep Diseases
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How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study.
Widén Elisabeth et al. Circulation. Genomic and precision medicine 2022 CIRCGEN121003459 -
Application of motivational interviewing strategies with the extended parallel process model to improve risk communication for parents of children with familial hypercholesterolemia.
Winchester Bridget et al. Journal of genetic counseling 2022 -
Prevalence of familial hypercholesterolaemia in patients presenting with premature acute coronary syndrome.
Hauguel-Moreau Marie et al. Archives of cardiovascular diseases 2022 -
Search for familial hypercholesterolemia patients in an Italian community: A real-life retrospective study.
Fasano Tommaso et al. Nutrition, metabolism, and cardiovascular diseases : NMCD 2022 -
Modeling Benefits, Costs, and Affordability of a Novel Gene Therapy in Hemophilia A.
Ten Ham Renske M T et al. HemaSphere 2022 6(2) e679 -
Number of Affected Relatives, Age, Smoking, and Hypertension Prediction Score for Intracranial Aneurysms in Persons With a Family History for Subarachnoid Hemorrhage.
Zuurbier Charlotte C M et al. Stroke 2022 STROKEAHA121034612 -
Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure.
Clarke Shoa L et al. Circulation. Genomic and precision medicine 2022 CIRCGEN121003501 -
Clinical-Epidemiological Characteristics and Mortality in Patients with Sickle Cell Anemia: A Retrospective Cohort Study of 1980 at 2018.
Pompeo Carolina Mariano et al. International journal of general medicine 2022 151057-1074 -
Sudden Death in Diabetic Ketoacidosis Complicated by Sickle Cell Trait.
Dau Georgia E et al. The American journal of forensic medicine and pathology 2022 -
GRNDaD: big data and sickle cell disease.
Lanzkron Sophie et al. Blood advances 2022 6(3) 1088
Newborn Screening
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PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening Related Genetic Variants in Structural Context.
Galano-Frutos Juan José et al. The Journal of molecular diagnostics : JMD 2022
Reproductive Health
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Prenatal Invasive Testing at a Tertiary Referral Center in India: A Report of 433 Cases Under a Single Operator.
Bansal Vandana et al. Journal of obstetrics and gynaecology of India 2022 72(1) 47-58 -
Prenatal Genetic Screening and Diagnostic Testing: Assessing Patients' Knowledge, Clinical Experiences, and Utilized Resources in Comparison to Provider's Perceptions.
Delgado Arlin et al. AJP reports 2022 12(1) e27-e32 -
Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.
Chien Chih-Wei et al. Scientific reports 2022 12(1) 2215
Eventr
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Future Forecast: Imagining Social and Behavioral Research for Genomic Translation
Colleen McBride, Precision Public Health Network lecture, March 1, 2022