Published on 09/29/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.
Raffaele Gabriella et al. American journal of medical genetics. Part A 2022 -
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev Sergey et al. Genes 2022 13(9) -
Autism and ADHD in the Era of Big Data; An Overview of Digital Resources for Patient, Genetic and Clinical Trials Information.
Abomelha Faris M et al. Genes 2022 13(9) -
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.
Melidis Damianos P et al. PLoS computational biology 2022 18(9) e1009785
Cancer Genomics
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Effect of comprehensive cancer genomic profiling on therapeutic strategies and clinical outcomes in patients with advanced biliary tract cancer: A prospective multicenter study.
Takada Kohichi et al. Frontiers in oncology 2022 12988527 -
Circulating Methylated SEPT9 DNA Analyses to Predict Recurrence Risk and Adjuvant Chemotherapy Benefit in Stage II to III Colorectal Cancer.
Yuan Zhen et al. Medical science monitor : international medical journal of experimental and clinical research 2022 28e937757 -
Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.
Tarawneh Thomas S et al. Cancers 2022 14(18) -
Does the 21-gene recurrence score have clinical utility in HR+/HER2+ breast cancer?
Bilani Nadeem et al. Breast (Edinburgh, Scotland) 2022 6649-53 -
Assessing Oncologists' Adoption of Biomarker Testing in Metastatic Colorectal Cancer Using Real World Data.
Iyer Pritish et al. JNCI cancer spectrum 2022 -
Ten-year follow-up of the observational RASTER study, prospective evaluation of the 70-gene signature in ER-positive, HER2-negative, node-negative, early breast cancer.
Vliek Sonja B et al. European journal of cancer (Oxford, England : 1990) 2022 175169-179 -
Differences in Prostate Cancer Transcriptomes by Age at Diagnosis: Are Primary Tumors from Older Men Inherently Different?
Zhou Charlie D et al. Cancer prevention research (Philadelphia, Pa.) 2022 OF1-OF11 -
Usefulness of Genetic Aberration and Shorter Telomere Length in Myelodysplastic Syndrome: A Pilot Study.
Park Hee Sue et al. Laboratory medicine 2022 -
Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing.
Lee Jeonghyo et al. Journal of pathology and translational medicine 2022 56(5) 249-259
Hereditary Cancer
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Implementation and outcome evaluations of a multi-site improvement program in cancer genetics.
Bednar Erica M et al. Journal of genetic counseling 2022 -
Breast cancer polygenic risk scores are associated with short-term risk of poor prognosis breast cancer.
McCarthy Anne Marie et al. Breast cancer research and treatment 2022 -
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
Lakeman Inge M M et al. Journal of medical genetics 2022 -
Clinical Utility of Universal Germline Genetic Testing for Patients With Breast Cancer.
Whitworth Pat W et al. JAMA network open 2022 5(9) e2232787 -
Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing.
Llorin Hannah et al. Cancer genetics 2022 268-26922-27 -
Ultrasonography screening in children and adolescents who have one parent with familial non-medullary thyroid carcinoma.
Rosario Pedro W et al. Journal of paediatrics and child health 2022 -
Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2022 -
Current Screening Strategies for Pancreatic Cancer.
Vanek Petr et al. Biomedicines 2022 10(9) -
Familial Pancreatic Cancer.
Saba Helena et al. Gastroenterology clinics of North America 2022 51(3) 561-575 -
Hereditary Breast and Ovarian Cancer Week in Michigan: September 25 – October 1, 2022
Gretchen Whitmer, governor of Michigan proclaims September 25 - October 1, 2022, as Hereditary Breast and Ovarian Cancer Week in Michigan.
Chronic Disease
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High Soluble Amyloid-β42 Predicts Normal Cognition in Amyloid-Positive Individuals with Alzheimer's Disease-Causing Mutations.
Sturchio Andrea et al. Journal of Alzheimer's disease : JAD 2022 -
The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
Lieberman Kenneth V et al. Kidney360 2022 3(5) 900-909
Ethics/Policy/Law
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Mitigating Membership Inference in Deep Learning Applications with High Dimensional Genomic Data.
Zhang Chonghao et al. IEEE International Conference on Healthcare Informatics. IEEE International Conference on Healthcare Informatics 2022 2022 -
Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program.
Khan Alyna T et al. Cell genomics 2022 2(8)
Practice
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Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.
Baker Anna et al. Journal of personalized medicine 2022 12(9) -
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Yingzhao et al. Journal of personalized medicine 2022 12(9) -
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.
Lee Angela et al. Missouri medicine 2022 119(4) 390-396 -
Patient-facing digital tools for delivering genetic services: a systematic review.
Lee Whiwon et al. Journal of medical genetics 2022 -
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020.
Tiner Jessica C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Heart, Lung, Blood and Sleep Diseases
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Genetic haemochromatosis: diagnosis and treatment of an iron overload disorder.
Johnson Martin et al. Nursing standard (Royal College of Nursing (Great Britain) : 1987) 2022 -
Cerebrovascular disease in sickle cell disease.
Alakbarzade Vafa et al. Practical neurology 2022 -
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.
Nafissi Navid A et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003675 -
Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening.
Schmidtke Jörg et al. Genes 2022 13(9) -
Prevalence and Treatment of Familial Hypercholesterolemia and Severe Hypercholesterolemia in Older Adults in Ontario, Canada.
Akioyamen Leo E et al. CJC open 2022 4(9) 739-747 -
Prognostic Modelling Studies of Coronary Heart Disease-A Systematic Review of Conventional and Genetic Risk Factor Studies.
Nasr Nayla et al. Journal of cardiovascular development and disease 2022 9(9) -
Treating hereditary transthyretin amyloidosis: Present & future challenges.
Echaniz-Laguna A et al. Revue neurologique 2022 -
Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease.
Maamari Dimitri J et al. JACC advances 2022 1(3)
Newborn Screening
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Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade-long experience.
Ellinwood N Matthew et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Population-based screening of newborns: Findings from the newborn screening expansion study (part two).
Chan Kee et al. Frontiers in genetics 2022 13867354 -
Developing an Online Dashboard to Visualize Performance Data-Tennessee Newborn Screening Experience.
Lechner Charles et al. International journal of neonatal screening 2022 8(3) -
dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.
Peng Gang et al. International journal of neonatal screening 2022 8(3)
Pharmacogenomics
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Cost-Effectiveness of Pharmacogenomics-Guided Prescribing to Prevent Gene-Drug-Related Deaths: A Decision-Analytic Model.
van der Wouden Cathelijne H et al. Frontiers in pharmacology 2022 13918493 -
Development and Validation of the Minnesota Assessment of Pharmacogenomic Literacy (MAPL).
Allen Josiah D et al. Journal of personalized medicine 2022 12(9) -
Pharmacogenetic Expression of CYP2C19 in a Pediatric Population.
Pierre-François Marie Josette Déborah et al. Journal of personalized medicine 2022 12(9) -
Cost effectiveness of pharmacogenetic testing for drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines: a systematic review.
Morris Sarah A et al. Clinical pharmacology and therapeutics 2022
Reproductive Health
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Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation.
Emms Alexandra et al. Genes 2022 13(9)