Published on 03/09/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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The incidence and clinical characteristics of fragile X syndrome in China.
Lianni Mei et al. Frontiers in pediatrics 2023 111064104 -
Management challenges in the treatment of severe hyperbilirubinemia in low- and middle-income countries: Encouraging advancements, remaining gaps, and future opportunities.
Katherine M Satrom et al. Frontiers in pediatrics 2023 111001141 -
Isolated aberrant right subclavian artery: an underlying clue for genetic anomalies.
Rui Li 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 2023 36(1) 2183762 -
Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.
Hager Jaouadi et al. Journal of translational medicine 2023 21(1) 160 -
Socioeconomic disadvantage and polygenic risk for high BMI magnify obesity risk across childhood: a longitudinal, population, cohort study.
Jessica A Kerr et al. The Lancet. Global health 2023 11 Suppl 1S9-S10 -
Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods.
Linlin Zhao et al. Frontiers in endocrinology 2023 141102777 -
Co-occurring conditions in children with Down syndrome and autism: a retrospective study.
Noemi A Spinazzi et al. Journal of neurodevelopmental disorders 2023 15(1) 9 -
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Tahira Batool et al. Journal of human genetics 2023 -
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.
Tatiane Yanes et al. European journal of human genetics : EJHG 2023 -
The relation between clinically diagnosed and parent-reported feeding difficulties in children with and without clefts.
Iris A C de Vries et al. European journal of pediatrics 2023 -
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Katharine Edgerley et al. American journal of medical genetics. Part A 2023 -
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Rai-Hseng Hsu et al. Molecular genetics & genomic medicine 2023 e2160 -
Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Timothy J Craig et al. Lancet (London, England) 2023
Cancer Genomics
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Different Expression and Clinical Implications of Cancer-Associated Fibroblast (CAF) Markers in Brain Metastases.
Md Rashedunnabi Akanda et al. Journal of Cancer 2023 14(3) 464-479 -
Bridging the Gap: Innovative 'Center for Precision Oncology' in Missouri.
Beth Gustafson et al. Missouri medicine 2023 120(1) 79-82 -
Overordering of tumor marker for outpatients revealed by performance indicators and the impact of a health policy intervention: An observational study using administrative records.
Massimo Gion et al. The International journal of biological markers 2023 3936155231154663 -
Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia.
Daniel Leongamornlert et al. Blood advances 2023 -
Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqKids for molecular profiling of childhood malignancies.
Kala F Schilter et al. Frontiers in genetics 2023 141067457 -
Cost-effectiveness of camrelizumab plus chemotherapy vs. chemotherapy in the first-line treatment of non-squamous NSCLC: Evidence from China.
Hongbin Dai et al. Frontiers in medicine 2023 101122731 -
CD4 cytotoxic T cells: an emerging effector arm of anti-tumor immunity.
Seongmin Jeong et al. BMB reports 2023 -
Budget Impact Analysis of Comprehensive Genomic Profiling in Advanced Non-Small Cell Lung Cancer in Taiwan.
Yi-Ling Tsai et al. Value in health regional issues 2023 3548-56 -
Cost-Effectiveness of Next-Generation Sequencing Versus Single-Gene Testing for the Molecular Diagnosis of Patients With Metastatic Non-Small-Cell Lung Cancer From the Perspective of Spanish Reference Centers.
Edurne Arriola et al. JCO precision oncology 2023 7e2200546 -
Overcoming barriers to tumor genomic profiling through direct-to-patient outreach.
Seyram A Doe-Tetteh et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 -
Implementation of Precision Oncology in Clinical Practice: Results of a National Survey for Health Care Professionals.
Gianpiero Fasola et al. The oncologist 2023 -
Construction of a prognostic risk assessment model for HER2 + breast cancer based on autophagy-related genes.
Fan Wang et al. Breast cancer (Tokyo, Japan) 2023 -
Cytogenetic Heterogeneity in Chronic Lymphocytic Leukemia.
Pina J Trivedi et al. Journal of the Association of Genetic Technologists 2023 49(1) 4-9
Hereditary Cancer
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Cancer Genetic Services in a Low- to Middle-Income Country: Cross-Sectional Survey Assessing Willingness to Undergo and Pay for Germline Genetic Testing.
Prisca O Adejumo et al. JCO global oncology 2023 9e2100140 -
Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.
K Bokkers et al. Annals of surgical oncology 2023 -
Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems.
Katrina M Romagnoli et al. Public health genomics 2023 -
Improving Rates of Germline BRCA Mutation Testing for Patients With Ovarian Cancer in Vancouver Island, British Columbia, Canada.
Laurie Barnhardt et al. JCO oncology practice 2023 OP2200341 -
Discordance between PAM50 intrinsic subtyping and immunohistochemistry in South African women with breast cancer.
Thérèse Dix-Peek et al. Breast cancer research and treatment 2023 -
BRCA carriers after risk-reducing bilateral salpingo-oophorectomy: menopausal hormone therapy knowledge gaps, and the impact of physicians' recommendations.
S Armon et al. Climacteric : the journal of the International Menopause Society 2023 1-7 -
Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.
Nicholas A Borja et al. Frontiers in oncology 2023 131068110 -
Genomic Analyses of Germline and Somatic Variation in High-Grade Serous Ovarian Cancer.
Aaron W Adamson et al. Research square 2023 -
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer.
Tugba Akin Duman et al. Journal of human genetics 2023 -
Breast Cancer Screening Utilization and Outcomes in Women With Neurofibromatosis Type 1.
Kevin Yan et al. Clinical breast cancer 2023 -
Validation of an abridged breast cancer risk prediction model for the general population.
Erika L Spaeth et al. Cancer prevention research (Philadelphia, Pa.) 2023 -
Comprehensive Care of Women With Genetic Predisposition to Breast and Ovarian Cancer.
Mariam M AlHilli et al. Mayo Clinic proceedings 2023 -
Strategies to Improve Adherence to Skin Self-examination and Other Self-management Practices in People at High Risk of Melanoma: A Scoping Review of Randomized Clinical Trials.
Deonna M Ackermann et al. JAMA dermatology 2023 -
Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.
Brittany L Bychkovsky et al. Breast cancer research and treatment 2023
Chronic Disease
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Salivary microRNAs in pediatric eosinophilic esophagitis.
Pooja Bm Jhaveri et al. Allergy and asthma proceedings 2023 44(2) 145-152 -
Associations of childhood-to-adulthood body size trajectories and genetic susceptibility with the risks of osteoarthritis: a population-based cohort study of UK Biobank data.
Muhui Zeng et al. The Lancet. Global health 2023 11 Suppl 1S2 -
Unmet needs in clinical trials in CKD: questions we have not answered and answers we have not questioned.
Adeera Levin et al. Clinical kidney journal 2023 16(3) 437-441 -
The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.
Lauren E Wedekind et al. Diabetologia 2023 -
Evaluating the effectiveness of cascade clinical screening for familial glaucoma in rural Western Australia.
Louis Stevenson et al. Clinical & experimental ophthalmology 2023 -
Serum Urate and Risk of Chronic Kidney Disease: A Mendelian Randomization Study Using Taiwan Biobank.
Hsiao-Mei Tsao et al. Mayo Clinic proceedings 2023 -
Distinct metabolic features of genetic liability to type 2 diabetes and coronary artery disease: a reverse Mendelian randomization study.
Madeleine L Smith et al. EBioMedicine 2023 90104503 -
Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.
Christie P Thomas et al. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2023
Ethics/Policy/Law
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Beyond CRISPR babies: How human genome editing is moving on after scandal.
Heidi Ledford et al. Nature 2023 -
Genomics is here: what can we do with it, and what ethical issues has it brought along for the ride?
Chris Willmott et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2023 29(1) 1-9 -
Ethical principles for the usage and sharing of genomic data from researc.
Vera Franková et al. Casopis lekaru ceskych 2023 161(7-8) 271-275
Practice
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A review of economic issues for gene-targeted therapies: Value, affordability, and access.
Louis P Garrison et al. American journal of medical genetics. Part C, Seminars in medical genetics 2023 -
An Integrated Approach of Learning Genetic Networks From Genome-Wide Gene Expression Data Using Gaussian Graphical Model and Monte Carlo Method.
Haitao Zhao et al. Bioinformatics and biology insights 2023 1711779322231152972 -
Gene-targeted therapies: Overview and implications.
P J Brooks et al. American journal of medical genetics. Part C, Seminars in medical genetics 2023 -
Whither social media and clinical genetics?
Chris Gunter et al. American journal of medical genetics. Part A 2023 -
Cascade testing following exome sequencing: Retrospective analysis of linked family data at two US laboratories.
Julie Stefka et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100818 -
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Thomas May et al. Family practice 2023 -
How to use human biomonitoring in chemical risk assessment: Methodological aspects, recommendations, and lessons learned from HBM4EU.
Tiina Santonen et al. International journal of hygiene and environmental health 2023 249114139 -
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Zornitza Stark et al. American journal of human genetics 2023 110(3) 419-426
Heart, Lung, Blood and Sleep Diseases
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Does low-density lipoprotein fully explain atherosclerotic risk in familial hypercholesterolemia?
Shoa L Clarke et al. Current opinion in lipidology 2023 34(2) 52-58 -
Management of Older Adults with Sickle Cell Disease: Considerations for Current and Emerging Therapies.
Charity I Oyedeji et al. Drugs & aging 2023 -
The effect of adjusting LDL-cholesterol for Lp(a)-cholesterol on the diagnosis of Familial Hypercholesterolaemia.
Darmiga Thayabaran et al. Journal of clinical lipidology 2023 -
Assessing knowledge of sickle cell disease and health beliefs on premarital genetic screening among healthcare trainees at a tertiary institution: A cross-sectional study.
William Kwaku Agbozo et al. Health science reports 2023 6(2) e1128 -
Impact of Genetic Disorders in the Surgical Management of Congenital Heart Disease.
Elizabeth H Stephens et al. World journal for pediatric & congenital heart surgery 2023 21501351221139837 -
Integrating oculomics with genomics reveals imaging biomarkers for preventive and personalized prediction of arterial aneurysms.
Yu Huang et al. The EPMA journal 2023 14(1) 73-86 -
Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.
Nathalie Gaudreault et al. American journal of medical genetics. Part A 2023 -
Huge Gap in In-Hospital Codification for Familial Hypercholesterolaemia.
Roi Y Kagan et al. Heart, lung & circulation 2023 32(2) E1-E2 -
Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
A M Medeiros et al. Current atherosclerosis reports 2023 -
ASOC Osuntokun Award Lecture 2022: Partnership for stroke prevention and treatment in Africa: Qualitative research processes and findings.
Carolyn Jenkins et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2023 107060 -
Early life growth trajectories in cystic fibrosis are associated with lung function at age six.
Kevin J Psoter et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
Newborn Screening
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Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Carsten Speckmann et al. Journal of clinical immunology 2023 1-14
Pharmacogenomics
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A review of the genomics of neonatal abstinence syndrome.
Elizabeth Yen et al. Frontiers in genetics 2023 141140400 -
Significance of Distinct Liquid Biopsy Compartments in Evaluating Somatic Mutations for Targeted Therapy Selection in Cancer of Unknown Primary.
Fiona R Kolbinger et al. Journal of gastrointestinal cancer 2023