Published on 03/12/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Cost of precision medicine at a referral center for cystic fibrosis.
Marson Fernando Augusto Lima et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2020 Mar 46(2) e20190308 -
Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
Na Ji-Hoon et al. Brain & development 2020 Mar -
Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics -
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Zanetti Alessandra et al. The Journal of molecular diagnostics : JMD 2020 Feb -
Genetic testing has the potential to impact hearing preservation following cochlear implantation.
Yoshimura Hidekane et al. Acta oto-laryngologica 2020 Mar 1-7 -
The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.
Quinn Jessica et al. Immunologic research 2020 Mar -
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
Simon Amos J et al. Clinical immunology (Orlando, Fla.) 2020 Mar 108376 -
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo Maria et al. American journal of medical genetics. Part A 2020 Mar -
Understanding genetic learning needs of people affected by rare disease.
Quinn Laura et al. Journal of genetic counseling 2020 Mar -
The Usefulness of Genotyping of Celiac Disease-Specific HLA among Children with Type 1 Diabetes in Various Clinical Situations.
Deja Grazyna et al. Journal of diabetes research 2020 20207869350
Cancer
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Identification of a four-gene methylation biomarker panel in high-grade serous ovarian carcinoma.
Baranova Ivana et al. Clinical chemistry and laboratory medicine 2020 Mar -
Poor Knowledge of Personal and Familial Colorectal Cancer Risk and Screening Recommendations Associated with Advanced Colorectal Polyps.
Patel Swati G et al. Digestive diseases and sciences 2020 Mar -
Mismatch Repair Deficient Rectal Cancer and Resistance to Neoadjuvant Chemotherapy.
Cercek Andrea et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Mar -
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav Siddhartha et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Mar JCO1902190 -
The impact of 21-Gene Recurrence Score test and classic clinical-pathologic factors in guiding adjuvant therapy for HER-2 negative, ER-positive, early-stage breast cancer: A retrospective study.
Rodriguez Palleiro Maria Clara et al. The breast journal 2020 Mar -
The leading role of pathology in assessing the somatic molecular alterations of cancer: Position Paper of the European Society of Pathology.
Matias-Guiu Xavier et al. Virchows Archiv : an international journal of pathology 2020 Mar -
Gene Panel Testing in Hereditary Breast Cancer.
Rostami Parvin et al. Archives of Iranian medicine 2020 Mar 23(3) 155-162 -
17-Gene Genomic Prostate Score Test Results in the Canary Prostate Active Surveillance Study (PASS) Cohort.
Lin Daniel W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Mar JCO1902267 -
Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study.
Archer Stephanie et al. PloS one 2020 15(3) e0229999 -
Colorectal cancer outcomes after screening with the multi-target stool DNA assay: protocol for a large-scale, prospective cohort study (the Voyage study).
Olson Janet E et al. BMJ open gastroenterology 2020 7(1) e000353 -
Utility of the methylated SEPT9 test for the early detection of colorectal cancer: a systematic review and meta-analysis of diagnostic test accuracy.
Hariharan Rohit et al. BMJ open gastroenterology 2020 7(1) e000355 -
Feasibility, patient compliance and acceptability of ovarian cancer surveillance using two serum biomarkers and Risk of Ovarian Cancer Algorithm compared to standard ultrasound and CA 125 among women with BRCA mutations.
Haque Reina et al. Gynecologic oncology 2020 Mar -
Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.
Federici Giulia et al. Journal of experimental & clinical cancer research : CR 2020 Mar 39(1) 46 -
Development and validation of a 10-gene prognostic signature for acute myeloid leukaemia.
Yang Zuyi et al. Journal of cellular and molecular medicine 2020 Mar
Chronic Disease
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Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study.
Inês Mónica et al. Orphanet journal of rare diseases 2020 Mar 15(1) 67 -
Systematic Review of Polygenic Risk Scores for Type 1 and Type 2 Diabetes.
Padilla-Martínez Felipe et al. International journal of molecular sciences 2020 Mar 21(5)
Ethics/Policy/Law
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The Ethics of Gene Editing from an Islamic Perspective: A Focus on the Recent Gene Editing of the Chinese Twins.
Al-Balas Qosay A E et al. Science and engineering ethics 2020 Mar -
Navigating the Intersection between Genomic Research and Clinical Practice.
Daly Mary B et al. Cancer prevention research (Philadelphia, Pa.) 2020 Mar 13(3) 219-222 -
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
South Sarah T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar
Practice
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A Systematized review of experiences of individuals in Arnett's emerging adulthood stage who live with or are at-risk for genetic conditions.
Shelley Anna Rae et al. Journal of genetic counseling 2020 Mar -
Racial and ethnic differences in genetic counseling experiences and outcomes in the United States: A systematic review.
Southwick Sabrina V et al. Journal of genetic counseling 2020 Mar -
Genetic counselor implicit bias and its effects on cognitive and affective exchanges in racially discordant simulations.
Lowe Chenery L et al. Journal of genetic counseling 2020 Mar -
What Results Should Be Returned from Opportunistic Screening in Translational Research?
Halverson Colin Me et al. Journal of personalized medicine 2020 Mar 10(1) -
Health Economics Tools and Precision Medicine: Opportunities and Challenges.
Veenstra David L et al. Forum for health economics & policy 2020 Mar -
How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners.
Evans W R H et al. Journal of community genetics 2020 Mar
Heart, Lung, Blood and Sleep Diseases
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The Prevalence of Sickle Cell Trait in Division I University Athletics Programs.
Hirschhorn Rebecca M et al. The Physician and sportsmedicine 2020 Mar -
A Review of Long QT Syndrome: Everything a Hospitalist Should Know.
Sharma Nandita et al. Hospital pediatrics 2020 Mar -
Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry.
Gidding Samuel S et al. Journal of clinical lipidology 2020 Feb -
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
Hoss Sara et al. Circulation. Genomic and precision medicine 2020 Mar
Newborn Screening
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Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations.
Beazer Jennifer et al. Molecular genetics and metabolism reports 2020 Jun 23100571 -
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening -Opportunity or Burden?
Müller-Felber Wolfgang et al. Journal of neuromuscular diseases 2020 Feb
Pharmacogenomics
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Pharmacogenetic Implications for Antidepressant Pharmacotherapy in Late-Life Depression: A Systematic Review of the Literature for Response, Pharmacokinetics and Adverse Drug Reactions.
Marshe Victoria S et al. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2020 Feb -
Derivation, Validation, and Prognostic Utility of a Prediction Rule for Nonresponse to Clopidogrel: The ABCD-GENE Score.
Angiolillo Dominick J et al. JACC. Cardiovascular interventions 2020 Mar 13(5) 606-617 -
Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing: An Update.
Moyer Ann M et al. Archives of pathology & laboratory medicine 2020 Mar
Reproductive Health
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The fragmentation patterns of maternal plasma cfDNA and its applications in non-invasive prenatal testing (NIPT).
Pan Min et al. Prenatal diagnosis 2020 Mar -
PGT-A preimplantation genetic testing for aneuploidies and embryo selection in routine ART cycles: Time to step back?
Sciorio Romualdo et al. Clinical genetics 2020 Mar -
Patient-Centered Prenatal Genetic Counseling
BU School of Medicine Continuing Medical Education -
Non-invasive prenatal testing for aneuploidy, copy number variants and single gene disorders.
Shaw Joe et al. Reproduction (Cambridge, England) 2020 Mar -
Status of medical genomics and genetics education in maternal-fetal medicine: survey of program directors and clinical fellows in the USA.
Levytska Khrystyna et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Mar 1-6