Published on 06/08/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Sophie E Bouffler et al. BMJ Open 2023 13(6) e072999 -
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
Danielle Bonser et al. J Pediatr 2023 113534 -
The challenges of classical galactosemia: HRQoL in pediatric and adult patients.
Merel E Hermans et al. Orphanet J Rare Dis 2023 18(1) 135 -
Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study.
Jana Willems et al. Orphanet J Rare Dis 2023 18(1) 136 -
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Amel Karaa et al. Neurology 2023 -
Utility of genetic testing in children with leukodystrophy.
Ayelet Zerem et al. Eur J Paediatr Neurol 2023 4529-35 -
Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds.
Stephanie L Santoro et al. Am J Med Genet A 2023 -
Storing paediatric genomic data for sequential interrogation across the lifespan.
Christopher Gyngell et al. J Med Ethics 2023
Cancer Genomics
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A Population-Based Study of Patients With Small Cell Carcinoma of the Ovary, Hypercalcemic Type, Encompassing a 30-Year Period.
Ana Blatnik et al. Arch Pathol Lab Med 2023 -
Efficient Identification of Patients With NTRK Fusions Using a Supervised Tumor-Agnostic Approach.
Susana Hernandez et al. Arch Pathol Lab Med 2023
Hereditary Cancer
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Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.
Patrick R Benusiglio et al. JCO Precis Oncol 2023 7e2200525 -
Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study.
Noemi Auxiliadora Fuentes Bolanos et al. BMJ Open 2023 13(5) e070082
Chronic Disease
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A Novel 8-Predictors Signature to Predict Complicated Disease Course in Pediatric-onset Crohn's Disease: A Population-based Study.
Hélène Sarter et al. Inflamm Bowel Dis 2023 -
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Delia Gagliardi et al. Front Neurol 2023 141169689
Ethics/Policy/Law
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Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
Meghan C Halley et al. J Pediatr 2023 113537 -
Ethical preparedness and developments in genomic healthcare.
Bobbie Farsides et al. J Med Ethics 2023 -
Gene-environment interaction: why genetic enhancement might never be distributed fairly.
Sinead Prince et al. J Med Ethics 2023
Practice
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Integrating Precision Medicine into Medical Dermatology Clinical Practice: An Expert Consensus Panel.
Danny Zakria et al. J Drugs Dermatol 2023 22(6) 588-593
Heart, Lung, Blood and Sleep Diseases
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Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Zhen Xu et al. Arch Pathol Lab Med 2023 -
Psychosocial needs and interventions for young children with cystic fibrosis and their families.
Stella Li et al. Paediatr Respir Rev 2023 -
Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.
Deena Iskander et al. Blood Rev 2023 101097 -
Evaluating the clinical effectiveness of the NHS Health Check programme: a prospective analysis in the Genetics and Vascular Health Check (GENVASC) study.
Radoslaw Debiec et al. BMJ Open 2023 13(5) e068025 -
Long-term effects of volanesorsen on triglycerides and pancreatitis in patients with familial chylomicronaemia syndrome (FCS) in the UK Early Access to Medicines Scheme (EAMS).
Alan Jones et al. Atherosclerosis 2023 37567-74 -
Lipoprotein Apheresis: Current Recommendations for Treating Familial Hypercholesterolemia and Elevated Lipoprotein(a).
Maya S Safarova et al. Curr Atheroscler Rep 2023 -
Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline.
Barbara J Bain et al. Br J Haematol 2023 201(6) 1047-1065
Newborn Screening
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A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Lieke M van den Heuvel et al. Orphanet J Rare Dis 2023 18(1) 134
Pharmacogenomics
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The impact of genomic variants on patient response to inhaled bronchodilators: a comprehensive update.
Maria Gabriella Matera et al. Expert Opin Drug Metab Toxicol 2023 -
An updated examination of the perception of barriers for pharmacogenomics implementation and the usefulness of drug/gene pairs in Latin America and the Caribbean.
Aimeé Salas-Hernández et al. Front Pharmacol 2023 141175737 -
Evaluation of HLA-B*05, *07, *08, *27 and *51 Allele Expression in Adults with Immune Thrombocytopenic Purpura.
Niloofar Yazdani Rad et al. Maedica (Bucur) 2023 18(1) 61-66 -
Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression.
Børge Holen et al. Addict Biol 2023 28(6) e13282 -
Mental Health Prescribers' Perceptions on the Use of Pharmacogenetic Testing in the Management of Depression in the Middle East and North Africa Region.
Shimaa Aboelbaha et al. Pharmgenomics Pers Med 2023 16503-518 -
Pharmacogenomics in practice: a review and implementation guide.
Danya Kabbani et al. Front Pharmacol 2023 141189976
Reproductive Health
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The genetic background of female reproductive disorders: a systematic review.
Triada Doulgeraki et al. Curr Opin Obstet Gynecol 2023 -
The Clinical Application and Accuracy Evaluation of Noninvasive Prenatal Testing for Common Trisomy and Sex Chromosome Aneuploidy.
Yichao Wang et al. Discov Med 2023 35(176) 353-360