Published on 03/30/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
-
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59 -
Clinical exome sequencing findings in 1589 patients.
Ozlem Gorukmez et al. American journal of medical genetics. Part A 2023 -
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Ana Monteiro et al. Hormones (Athens, Greece) 2023 -
Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.
Tazeen Zahid et al. Pakistan journal of medical sciences 2023 39(2) 409-416 -
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Olivia J Henry et al. Molecular genetics & genomic medicine 2023 e2167 -
Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.
Peter K Moon et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023
Cancer Genomics
-
Real-World Evaluation of Disease Progression After CDK 4/6 Inhibitor Therapy in Patients With Hormone Receptor-Positive Metastatic Breast Cancer.
Malinda T West et al. The oncologist 2023 -
Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses.
Alessa Fischer et al. The Journal of clinical endocrinology and metabolism 2023 -
The Glioma-IRE project - Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach.
Veronica Villani et al. Journal of translational medicine 2023 21(1) 215 -
TERT Immunohistochemistry as a Surrogate Marker for TERT Promoter Mutations in Infiltrating Gliomas.
Antonio Dono et al. Applied immunohistochemistry & molecular morphology : AIMM 2023 -
Helping oncologists utilize genomics in cancer care: An updated definition of the uses of genetic biomarkers in cancer diagnosis and care can make a difference in how physicians understand their use in the clinic.: An updated definition of the uses of genetic biomarkers in cancer diagnosis and care can make a difference in how physicians understand their use in the clinic.
Mary Beth Nierengarten et al. Cancer 2023 129(8) 1140-1141 -
Prognostic Mutational Signatures of NSCLC Patients treated with chemotherapy, immunotherapy and chemoimmunotherapy.
Margaret R Smith et al. NPJ precision oncology 2023 7(1) 34 -
Proteomic profiling of colorectal adenomas identifies a predictive risk signature for development of metachronous advanced colorectal neoplasia.
Jacob Mathias Bech et al. Gastroenterology 2023 -
HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted Therapy.
Amy S Joehlin-Price et al. The American journal of surgical pathology 2023 -
Are High Levels of Microsatellite Instability and Microsatellite Stability Identical in DNA Mismatch Repair-Deficient Colorectal Cancer Patients?
Yan-Yu Qiu et al. Canadian journal of gastroenterology & hepatology 2023 20238370262
Hereditary Cancer
-
Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome.
Clara Cerrato et al. World journal of urology 2023 -
Information needs on nutrition in link to cancer prevention among cancer patients, high-risk individuals and general population - A national cross-sectional study.
L Veron et al. Clinical nutrition ESPEN 2023 54421-429 -
Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.
Christine M Gunn et al. Cancer control : journal of the Moffitt Cancer Center 2023 3010732748221143884 -
Universal screening for Lynch syndrome in operated colorectal cancer by immunohistochemistry: a cohort of patients in Liaoning province, China.
Guangyue Zhao et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2023 -
Germline Genetic Variants and Pediatric Rhabdomyosarcoma Outcomes: A Report from the Children's Oncology Group.
Bailey A Martin-Giacalone et al. Journal of the National Cancer Institute 2023 -
Early-onset grade 2-3 diffuse gliomas and schwannomas increase the risk of central nervous system tumors among the patients' relatives.
Eljas Alanen et al. Neuro-oncology advances 2023 5(1) vdad008 -
Diagnosis, Management, and Surveillance for Patients With PALB2, CHEK2, and ATM Gene Mutations.
Maria G Fencer et al. Clinical breast cancer 2023 -
Individuals with a Family History of Colorectal Cancer Warrant Tailored Interventions to Address Patient-Reported Barriers to Screening.
Shailavi Jain et al. Clinical and translational gastroenterology 2023
Chronic Disease
-
KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review.
Raffaele Falsaperla et al. Neuropediatrics 2023 -
Adverse effect of PNPLA3 p.I148M genetic variant on kidney function in middle-aged individuals with metabolic dysfunction.
Alessandro Mantovani et al. Alimentary pharmacology & therapeutics 2023 -
Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.
Min Qiao et al. Annals of clinical and translational neurology 2023 -
The Effects of Subjective Cognitive Decline on APOE Genotype Disclosure in the Butler Hospital Alzheimer's Prevention Registry.
A K W Lee et al. The journal of prevention of Alzheimer's disease 2023 10(2) 152-161
Ethics/Policy/Law
-
Webinar report: stakeholder perspectives on informed consent for the use of genomic data by commercial entities.
Baergen Schultz et al. Journal of medical ethics 2023
Practice
-
Future prospects for human genetics and genomics in drug discovery.
Maya Ghoussaini et al. Current opinion in structural biology 2023 80102568 -
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
Moriel Singer-Berk et al. medRxiv : the preprint server for health sciences 2023 -
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Salma Shickh et al. Human genetics 2023 -
Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.
Mary-Anne Young et al. Twin research and human genetics : the official journal of the International Society for Twin Studies 2023 1-9 -
A practical checklist for return of results from genomic research in the European context.
Danya F Vears et al. European journal of human genetics : EJHG 2023
Heart, Lung, Blood and Sleep Diseases
-
Genetic analyses of chr11p15.5 region identify MUC5AC-MUC5B associated with asthma-related phenotypes.
Xingnan Li et al. The Journal of asthma : official journal of the Association for the Care of Asthma 2023 1-16 -
Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study.
Jiangming Sun et al. Stroke 2023 -
Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial.
Daniel D Kinnamon et al. Circulation 2023
Newborn Screening
-
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
Stephanie White et al. European journal of human genetics : EJHG 2023 -
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.
Katie Tobik et al. Maternal and child health journal 2023 -
Implementing a comprehensive newborn monitoring chart: Barriers, enablers, and opportunities.
Naomi Muinga et al. PLOS global public health 2023 2(7) e0000624
Pharmacogenomics
-
Pharmacogenomics implementation: "a little less conversation, a little more action, please".
Kelly E Caudle et al. Pharmacogenomics 2023 -
Pharmacy students' attitudes and intentions of pursuing postgraduate studies and training in pharmacogenomics and personalised medicine.
Dimitra Makrygianni et al. Human genomics 2023 17(1) 27 -
The Contribution of Pharmacogenetic Drug Interactions to 90-Day Hospital Readmissions in a Real-World Health System.
Sean David et al. Annals of family medicine 2023 (21 Suppl 1) -
Pharmacogenetic association of the NR1H3 promoter variant with antihypertensive response among patients with hypertension: A longitudinal study.
Yu Chen et al. Frontiers in pharmacology 2023 141083134 -
Genome-wide association study identifies genetic variants which predict the response of bone mineral density to teriparatide therapy.
Nerea Alonso et al. Annals of the rheumatic diseases 2023
Reproductive Health
-
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores.
Maria Siermann et al. European journal of human genetics : EJHG 2023 -
Retrospective diagnosis by parental testing in next generation sequencing era and utility of reanalysis of exome data.
Deepti Saxena et al. Prenatal diagnosis 2023 -
Sperm donor attitudes and experiences with direct-to-consumer genetic testing.
Sascha Wodoslawsky et al. F&S reports 2023 4(1) 36-42 -
Obstetrical, perinatal and genetic outcomes associated with non-reportable prenatal cell free DNA screening results.
Mary E Norton et al. American journal of obstetrics and gynecology 2023 -
Optimising the screening for haemoglobinopathies in pregnancy planning.
Robert S Nickel et al. Human fertility (Cambridge, England) 2023 1-6 -
Pregnant Latinas' perspectives on pursuing expanded carrier screening: "It is better to know than not".
Melodie Tedross et al. Journal of genetic counseling 2023