Published on 01/12/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical and genetic characterization of familial central precocious puberty.
Tinano Flávia Rezende et al. The Journal of clinical endocrinology and metabolism 2023 -
Impaired motor development in children with familial high risk of schizophrenia or bipolar disorder and the association with psychotic experiences: a 4-year Danish observational follow-up study.
Burton Birgitte Klee et al. The lancet. Psychiatry 2023 -
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Matalon Dena R et al. American journal of medical genetics. Part A 2023 -
Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.
Jodarski Colleen et al. Journal of community genetics 2023 -
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Taylor Cora M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 25(1) 151-154 -
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.
Abolhassani Hassan et al. Frontiers in immunology 2023 131032358 -
Fetal intestinal loop dilatation: Follow-up and outcome of a series of 133 consecutive cases (DILDIG Study).
Mangione Raphaële et al. Prenatal diagnosis 2023 -
Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.
Le Binh Thanh et al. BMJ case reports 2023 15(12) -
The Use of DXA for Early Detection of Pediatric Cystic Fibrosis related Bone Disease.
Chadwick Christina et al. Pediatric pulmonology 2023 -
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma Jing et al. Human genomics 2023 17(1) 1 -
Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians' Views and Experiences.
Notini Lauren et al. AJOB empirical bioethics 2023 1-10 -
Contemporary aetiologies of medical complexity in children: a cohort study.
Haque Bushra et al. Archives of disease in childhood 2023 -
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XXY.
Gravholt Claus H et al. Endocrine connections 2023 -
The Nuclear Envelope in Ageing and Progeria.
Fragoso-Luna Adrián et al. Sub-cellular biochemistry 2023 10253-75 -
How guideline development has informed clinical research for organic acidurias (et vice versa).
Forny Patrick et al. Journal of inherited metabolic disease 2023 -
Diagnostic Value of Serum Gamma Glutamyl Transpeptidase (GGT) for Early Diagnosis of Biliary Atresia.
Haque M A et al. Mymensingh medical journal : MMJ 2023 32(1) 193-199
Cancer Genomics
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Survival Benefit of Chemotherapy According to 21-Gene Recurrence Score in Young Women with Breast Cancer.
Nash A L et al. Annals of surgical oncology 2023 -
Applying value-based strategies to accelerate access to novel cancer medications: guidance from the Oncology Health Economics Expert Panel in Qatar (Q-OHEP).
Hamad Anas et al. BMC health services research 2023 23(1) 15 -
Genetic Risk Prediction for Prostate Cancer: Implications for Early Detection and Prevention.
Seibert Tyler M et al. European urology 2023 -
Lung Cancer Risk Prediction Nomogram in Nonsmoking Chinese Women: Retrospective Cross-sectional Cohort Study.
Guo Lanwei et al. JMIR public health and surveillance 2023 9e41640 -
Whole-body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study.
Omran Meis et al. Cancer 2023 -
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage Hidenori et al. Cancer science 2023 -
Cost-effectiveness analysis of Oncotype DX from a Brazilian private medicine perspective: a GBECAM multicenter retrospective study.
Oliveira Leandro Jonata Carvalho et al. Therapeutic advances in medical oncology 2023 1417588359221141760 -
Current Issues in the Management of Patients With Newly Diagnosed Advanced-Stage High-Grade Serous Carcinoma of the Ovary.
Penn Courtney A et al. JCO oncology practice 2023 OP2200461 -
Analysis of a biopsy-based genomic classifier in high-risk prostate cancer: Meta-analysis of the NRG Oncology/RTOG 9202, 9413, and 9902 phase III randomized trials.
Nguyen Paul L et al. International journal of radiation oncology, biology, physics 2023 -
The Cancer Genome Atlas (TCGA) based m6A methylation-related genes predict prognosis in rectosigmoid cancer.
Zhou Wei et al. Medicine 2023 101(51) e32328 -
A survival prediction model and nomogram based on immune-related gene expression in chronic lymphocytic leukemia cells.
Huang Han-Ying et al. Frontiers in medicine 2023 91026812 -
Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research.
Gutierrez Amanda M et al. Journal of adolescent and young adult oncology 2023 -
The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care.
Cerone Maria Antonietta et al. British journal of cancer 2023 -
Detection of ROS1 gene fusions using next-generation sequencing for patients with malignancy in China.
Li Ning et al. Frontiers in cell and developmental biology 2023 101035033
Hereditary Cancer
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Insurance Coverage of Prophylactic Mastectomies: A National Review of the United States.
Ha Michael et al. Clinical breast cancer 2023 -
High-dose chemotherapy with stem cell rescue to treat stage III homologous deficient breast cancer: factors influencing clinical implementation.
Verbeek Joost G E et al. BMC cancer 2023 23(1) 26 -
Melanoma Survival by Age Group: Population-Based Disparities for Adolescent and Young Adult Patients by Stage, Tumor Thickness, and Insurance Type.
Wojcik Katherine Y et al. Journal of the American Academy of Dermatology 2023 -
Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome: Children's National Hospital experience and literature review.
Patel Nirali et al. Journal of neurosurgery. Pediatrics 2023 1-10 -
Rates and outcomes of testing for lynch syndrome in a national colorectal cancer screening programme.
Cudmore Jane et al. Cancer epidemiology 2023 82102314 -
Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.
Subasioglu Asli et al. European journal of breast health 2023 19(1) 55-69 -
Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant.
Bang Yoon Ju et al. Annals of surgical treatment and research 2023 103(6) 323-330 -
Mismatch Repair and Microsatellite Instability Testing for Immune Checkpoint Inhibitor Therapy: ASCO Endorsement of College of American Pathologists Guideline.
Vikas Praveen et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2023 JCO2202462 -
Utilization of genetic testing in men with advanced prostate cancer.
Aguiar Jonathan A et al. The Prostate 2023
Chronic Disease
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Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.
De Michele Giovanna et al. Acta neurologica Belgica 2023 -
Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4 -
Controversies and Disparities in the Management of Age-Related Macular Degeneration.
Fairbanks Aaron M et al. Seminars in ophthalmology 2023 1-9 -
The diagnostic yield of next generation sequencing in inherited retinal diseases: A systematic review and meta-analysis.
Britten-Jones Alexis Ceecee et al. American journal of ophthalmology 2023 -
Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by the European Vision Institute Clinical Research Network - EVICR.net.
Lorenz Birgit et al. Ophthalmic research 2023 -
Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context.
Fong Nikki et al. Annals of the Academy of Medicine, Singapore 2023 51(12) 798-800 -
Consensus on diagnosis and management of Hereditary Angioedema in the Middle East: A Delphi initiative.
Maurer Marcus et al. The World Allergy Organization journal 2023 16(1) 100729 -
C-reactive protein and telomerase reverse transcriptase (TERT) associate with chronic disease markers in a sample from low-income neighborhoods in Detroit, Michigan.
Ferguson David P et al. Sports medicine and health science 2023 4(4) 275-279 -
Relationship among genetic variants, obesity traits and asthma in the Taiwan Biobank.
Huang Ying-Jhen et al. BMJ open respiratory research 2023 9(1) -
Cytogenomic epileptology.
Iourov Ivan Y et al. Molecular cytogenetics 2023 16(1) 1 -
Systematic review and individual-patient-data meta-analysis of non-invasive fibrosis markers for chronic hepatitis B in Africa.
Johannessen Asgeir et al. Nature communications 2023 14(1) 45 -
Colchicine treatment can be discontinued in a selected group of pediatric FMF patients.
Cohen Keren et al. Pediatric rheumatology online journal 2023 21(1) 2 -
Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India.
Poddar Ujjal et al. Inflammatory bowel diseases 2023 -
Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study.
Biasiotto Roberta et al. European journal of human genetics : EJHG 2023 -
Genetic Testing in Nephrology: Show Your Pedigree!
Cirillo Luigi et al. Kidney360 2023 3(12) 2148-2152
Ethics/Policy/Law
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"Doing Good" in U.S. Cancer Genomics? Valuation practices across the boundaries of research and care in rural community oncology.
Darling Katherine Weatherford et al. New genetics and society 2023 41(3) 254-283 -
The Promise and Peril of Genetics.
Dick Danielle M et al. Current directions in psychological science 2023 31(6) 480-485
Practice
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Assessing patient-level knowledge of precision medicine in a community health center setting.
Stallings Sarah C et al. Journal of community genetics 2023 -
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices.
Tudini Emma et al. Journal of medical genetics 2023 -
Elective genomic testing: Practice resource of the National Society of Genetic Counselors.
Blout Zawatsky Carrie L et al. Journal of genetic counseling 2023
Heart, Lung, Blood and Sleep Diseases
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Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.
Girolami Francesca et al. Frontiers in cardiovascular medicine 2023 91080608 -
Longitudinal pathways from adolescent depressive symptoms to cardiovascular disease risk in adulthood.
Park Hansol et al. Social science & medicine (1982) 2023 318115657 -
Acute myeloid leukemia: challenges for diagnosis and treatment in Latin America.
Gómez-De León Andrés et al. Hematology (Amsterdam, Netherlands) 2023 28(1) 2158015 -
The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.
Fan Shanghua et al. Orphanet journal of rare diseases 2023 18(1) 2 -
Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
Tromp Tycho R et al. Journal of clinical lipidology 2023 -
Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single nucleotide variants and hypercholesterolemia in the Polish population: a cross-sectional study.
Swiderska Monika K et al. Polish archives of internal medicine 2023 -
A qualitative study on stigma experienced by young adults living with sickle cell disease in Accra, Ghana.
Okoibhole Lydia O et al. International health 2023 -
Effectiveness and feasibility of cardiovascular disease personalized prevention on high polygenic risk score subjects: a randomized controlled pilot study.
Viigimaa Margus et al. European heart journal open 2023 2(6) oeac079 -
Screening for familial hypercholesterolaemia in primary school children: protocol for a cross-sectional, feasibility study in Luxembourg city (EARLIE).
Becker Marianne et al. BMJ open 2023 12(12) e066067 -
Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations.
Sarnowski Chloé et al. Circulation. Genomic and precision medicine 2023 e003858 -
Polygenic risk scores in coronary artery disease.
Christiansen Morten Krogh et al. Current opinion in cardiology 2023 38(1) 39-46
Pharmacogenomics
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Pharmacogenetics of P2Y Receptor Inhibitors.
Thomas Cameron D et al. Pharmacotherapy 2023 -
Potential Impact of Pharmacogenomic Single Nucleotide Variants in a Rural Caucasian Population.
Williams Grace R et al. The journal of applied laboratory medicine 2023 -
Genotyping genetic variants of CYP2C19 for precision antiplatelet dosing: state of the art and future perspectives.
Djordjevic Natasa et al. Expert opinion on drug metabolism & toxicology 2023 1-14 -
CYP2D6 pharmacogenetics and phenoconversion in personalized medicine.
Nahid Noor A et al. Expert opinion on drug metabolism & toxicology 2023 1-17 -
Modeling and integrating interactions involving the CYP450 enzyme system in a multi-terminology server: Contribution to information extraction from a clinical data warehouse.
Gosselin Laura et al. International journal of medical informatics 2023 170104976 -
Next-generation sequencing of homologous recombination genes could predict efficacy of platinum-based chemotherapy in non-small cell lung cancer.
Zhang Linlin et al. Frontiers in oncology 2023 121035808 -
How to Implement a Pharmacogenetics Service at your Institution.
Cicali Emily J et al. Journal of the American College of Clinical Pharmacy : JACCP 2023 5(11) 1161-1175
Reproductive Health
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A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy.
Shear Matthew A et al. Prenatal diagnosis 2023 -
Understanding the experiences and perspectives of prenatal screening among a diverse cohort.
Riches Naomi O et al. Prenatal diagnosis 2023 -
Bridging the Gap between AZF Microdeletions and Karyotype: Twelve Years' Experience of an Infertility Center.
Kalantari Hamid et al. The world journal of men's health 2023 -
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
Abulí Anna et al. Journal of medical genetics 2023 -
A Multi-centre Experience of Trans-abdominal Chorionic Villus Sampling in Pakistan.
Baqai Shehla et al. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2023 33(1) 37-40 -
Prenatal genetic evaluation of fetuses with structural anomaly: is it time to shift from microarray to exome sequencing as a first-tier test?
Lin X-M et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2023 61(1) 119-120 -
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia.
Guzmán-Jiménez Andrea et al. Frontiers in cell and developmental biology 2023 101089782
Tools/Databases
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Efficient querying of genomic reference databases with gget.
Luebbert Laura et al. Bioinformatics (Oxford, England) 2023 -
SIMBSIG: similarity search and clustering for biobank-scale data.
Adamer Michael F et al. Bioinformatics (Oxford, England) 2023 39(1) -
End-to-End Data Automation for Pooled Sample SARS-CoV-2 Using R and Other Open-Source Tools.
Mobini Mahdi et al. The journal of applied laboratory medicine 2023 8(1) 41-52 -
Unsupervised discovery of ancestry-informative markers and genetic admixture proportions in biobank-scale datasets.
Ko Seyoon et al. American journal of human genetics 2023 -
Linked Birth Cohort Files for Perinatal Health Research: California as a Model for Methodology and Implementation.
Danielsen Beate H et al. Annals of epidemiology 2023 -
Data sharing to advance gene-targeted therapies in rare diseases.
Lekstrom-Himes Julie et al. American journal of medical genetics. Part C, Seminars in medical genetics 2023