Published on 10/20/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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EEG Findings Enhance the Yield of Epilepsy Gene Panel Testing in Children.
Nordli Douglas R et al. Pediatric neurology 2022 13730-33 -
A Validated Artificial Intelligence-based Pipeline for Population-Wide Primary Immunodeficiency Screening.
Rider Nicholas L et al. The Journal of allergy and clinical immunology 2022 -
Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice.
Raspa Melissa et al. Journal of developmental and behavioral pediatrics : JDBP 2022 -
Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.
Demirhan Osman et al. Chromosoma 2022 -
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.
Kingsmore Stephen F et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Cancer Genomics
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Can We Forgo Sentinel Lymph Node Biopsy in Women Aged ≥ 50 Years with Early-Stage Hormone-Receptor-Positive HER2-Negative Special Histologic Subtype Breast Cancer?
Knape Nicole et al. Annals of surgical oncology 2022 -
Variability in endometrial carcinoma pathology practice: opportunities for improvement with molecular classification.
Thompson Emily F et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2022 -
The efficacy and tolerability of combining pemetrexed-based chemotherapy with gefitinib in the first-line treatment of non-small cell lung cancer with mutated EGFR: A pooled analysis of randomized clinical trials.
Wang Bi-Cheng et al. PloS one 2022 17(10) e0275919 -
Proteomic Signature for Detection of High Grade Ovarian Cancer in germline BRCA mutation carriers.
Bahar-Shany Keren et al. International journal of cancer 2022 -
Effectiveness of Organized Mammography Screening for Different Breast Cancer Molecular Subtypes.
Ding Lilu et al. Cancers 2022 14(19) -
Genomic profiling in low grade serous ovarian cancer: Identification of novel markers for disease diagnosis and therapy.
ElNaggar Adam et al. Gynecologic oncology 2022 -
Clinical and Genomic Features of HER2 Exon 20 Insertion Mutations and Characterization of HER2 Expression by Immunohistochemistry in East Asian Non-Small-Cell Lung Cancer.
Tan Aaron C et al. JCO precision oncology 2022 6e2200278
Hereditary Cancer
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Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
Infante Mar et al. International journal of molecular sciences 2022 23(19) -
'I had a bigger cancer risk than I thought…': The experience of receiving personalized risk information as part of a skin cancer prevention intervention in the college setting.
Brady Hannah L et al. Health expectations : an international journal of public participation in health care and health policy 2022 e13601 -
A CANADIAN PROVINCIAL SCREENING PROGRAM FOR LYNCH SYNDROME.
Jk Stone et al. The American journal of gastroenterology 2022
Chronic Disease
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Genetics of Obesity in Humans: A Clinical Review.
Mahmoud Ranim et al. International journal of molecular sciences 2022 23(19)
Practice
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Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships.
Billawala Thalia et al. HGG advances 2022 3(4) 100140
Heart, Lung, Blood and Sleep Diseases
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Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2022 77(10) 606-610 -
A review of laboratory considerations in thrombophilia testing.
Ong Jeremy et al. Pathology 2022 -
Reduction in vaso-occlusive events following stem cell transplantation in patients with sickle cell disease.
Leonard Alexis K et al. Blood advances 2022 -
Delphi Panel Consensus Recommendations for Screening and Managing Childhood Cancer Survivors at Risk for Cardiomyopathy.
Aziz-Bose Rahela et al. JACC. CardioOncology 2022 4(3) 354-367 -
Exploring the Efficacy of Alirocumab and Evolocumab in Reducing Low-Density Lipoprotein (LDL) Cholesterol Levels in Patients With Familial Hypercholesterolemia: A Systematic Review.
Luthra Gaurav et al. Cureus 2022 14(9) e28930 -
An Overview of Solid Organ Transplantation in Patients With Sickle Cell Disease.
Sharpe Claire C et al. Transplantation 2022 -
Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia.
Tada Hayato et al. Journal of clinical lipidology 2022 -
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.
Jingxin Shan et al. Molecular genetics & genomic medicine 2022 e2070 -
MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.
Zhang Qianqian et al. Clinical chemistry 2022 -
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.
Rickman Allison F et al. Journal of genetic counseling 2022
Newborn Screening
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Special issue: Newborn screening research.
Brower Amy et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Detection of Disease-Causing CFTR Variants In State Newborn Screening Programs.
McGarry Meghan E et al. Pediatric pulmonology 2022
Pharmacogenomics
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Implementing comprehensive pharmacogenomics in a community hospital-associated primary care setting.
Wick Jennifer A et al. Journal of the American Pharmacists Association : JAPhA 2022 -
Designing an evidence based community pharmacy service specification for a pharmacogenomic testing service.
Rendell Tim et al. International journal of clinical pharmacy 2022 -
Clinician adherence to pharmacogenomics prescribing recommendations in clinical decision support alerts.
Nguyen Jenny Q et al. Journal of the American Medical Informatics Association : JAMIA 2022 -
Pharmacogenomics at the post-pandemic: If not now, then when?
Al-Mahayri Zeina N et al. Frontiers in pharmacology 2022 131013527
Reproductive Health
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Global Trends in Research on Cell-Free Nucleic Acids in Obstetrics and Gynecology during 2017-2021.
Gao Wenyan et al. Journal of clinical medicine 2022 11(19) -
Cell-free fetal DNA testing performance and fetal fraction estimation are not affected in ART-conceived pregnancies.
Balaguer Nuria et al. Human reproduction (Oxford, England) 2022