Published on 12/15/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking Lynne J et al. European journal of human genetics : EJHG 2022 -
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
Forlanini Federica et al. Journal of clinical immunology 2022 -
Genome-wide analysis of copy number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lansdon Lisa A et al. American journal of human genetics 2022 -
Hereditary Rickets: A Quick Guide for the Pediatrician.
AlSubaihin Abdulmajeed et al. Current pediatric reviews 2022 -
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
Akbar Fizza et al. Epilepsy & behavior reports 2022 20100575 -
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.
Collins Bridget E et al. Neuropsychiatric disease and treatment 2022 182813-2835
Cancer Genomics
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Performance of a targeted methylation-based multi-cancer early detection test by race and ethnicity.
Tang W H Wilson et al. Preventive medicine 2022 107384 -
Clinical Utility of Dermoscopy and 31-Gene Expression Profiling by Dermatology Providers in Melanoma Management Care.
Witkowski Alexander et al. Journal of drugs in dermatology : JDD 2022 21(12) 1347-1352 -
A risk score for the prognosis prediction of the muscle-invasive bladder cancer patients who received gemcitabine plus cisplatin chemotherapy.
Guo Yupeng et al. Aging 2022 14 -
When to order genomic tests: development and external validation of a model to predict high-risk prostate cancer at the genotypic level.
Falagario Ugo Giovanni et al. World journal of urology 2022 -
Genomic Landscape of Circulating-Tumor DNA in a Diverse Cohort of Metastatic Breast Cancer Patients.
Cheng Shirley et al. Oncology research and treatment 2022 -
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen Edwin et al. JCO precision oncology 2022 6e2200245 -
Integrated Analysis of Altered lncRNA, circRNA, microRNA, and mRNA Expression in Hepatocellular Carcinoma Carrying TERT Promoter Mutations.
Zhang Haibin et al. Journal of hepatocellular carcinoma 2022 91201-1215
Hereditary Cancer
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PRState: Incorporating genetic ancestry in prostate cancer risk scores for men of African ancestry.
Pagadala Meghana S et al. BMC cancer 2022 22(1) 1289 -
CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.
Nyberg Tommy et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2201453 -
Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
Macklin-Mantia Sarah K et al. Journal of genetic counseling 2022 -
Patient-reported outcomes associated with reflex BRCA1/2 tumor and subsequent germline panel genetic testing for high-grade serous ovarian cancer.
McCuaig Jeanna M et al. Journal of genetic counseling 2022 -
BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
Sun Jie et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200833
Chronic Disease
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Identification of psychoeducation needs and an intervention response for pre-symptomatic Huntington's disease.
Gluyas Cathy et al. Journal of community genetics 2022 1-9 -
MicroRNAs Associated with Incident Diabetes in the Diabetes Prevention Program.
Flowers Elena et al. The Journal of clinical endocrinology and metabolism 2022
Ethics/Policy/Law
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Yes, We Can, But Should We? Ethical Considerations in Reporting Germline Findings From Paired Tumor-Normal Genomic Testing in Patients With Advanced Cancer.
Hunter Cynthia L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200796
Practice
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Faculty education to improve integration of genomics education in nursing curriculum.
Smania Mary Alison et al. Journal of professional nursing : official journal of the American Association of Colleges of Nursing 2022 4374-82 -
Bridging the genomic data gap in Africa: implications for global disease burdens.
Omotoso Olabode Ebenezer et al. Globalization and health 2022 18(1) 103 -
Familial load of psychiatric disorders and overall functioning in patients newly diagnosed with bipolar disorder and their unaffected first-degree relatives.
Sletved Kimie Stefanie Ormstrup et al. International journal of bipolar disorders 2022 10(1) 28 -
Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos.
Christensen Kurt D et al. HGG advances 2022 4(1) 100160 -
Different perspectives on translational genomics in personalized medicine.
Dogan Berkcan et al. Journal of the Turkish German Gynecological Association 2022 23(4) 314-321 -
A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network.
Spillmann Rebecca C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Donor and non-donor perspectives on receiving information from routine genomic testing of donor blood.
Thorpe Rachel et al. Transfusion 2022
Heart, Lung, Blood and Sleep Diseases
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Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia.
Tromp Tycho R et al. Atherosclerosis 2022 -
An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic.
Mohananey Akanksha et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Sex-related differences in premature cardiovascular disease in familial hypercholesterolemia.
Agarwala Anandita et al. Journal of clinical lipidology 2022 -
Gene therapy preferences and informed decision-making: Results from a National Hemophilia Foundation Community Voices in research survey.
Limjoco Jacqueline et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 -
Targeting PCSK9 with Antibodies and Gene Silencing to Reduce LDL-cholesterol.
Newman Connie B et al. The Journal of clinical endocrinology and metabolism 2022 -
Complementary role of evinacumab in combination with lipoprotein apheresis in patients with homozygous familial hypercholesterolemia.
Duell Paul Barton et al. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2022 -
A familial hypercholesterolemia registry as the main tool for adequate management of the disease.
Korneva Victoria Alekseevna et al. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2022 -
Knowledge to date on secondary malignancy following hematopoietic cell transplantation for sickle cell disease.
Fitzhugh Courtney D et al. Hematology. American Society of Hematology. Education Program 2022 2022(1) 266-271 -
Long-term health outcomes following curative therapies for sickle cell disease.
Chakravarthy Rohini et al. Hematology. American Society of Hematology. Education Program 2022 2022(1) 272-276 -
Haemochromatosis revisited.
Alvarenga Aline Morgan et al. World journal of hepatology 2022 14(11) 1931-1939 -
Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy.
Sonkawade Naresh Dattatraya et al. Ethiopian journal of health sciences 2022 32(6) 1203-1210
Newborn Screening
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Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.
Appelberg Kajsa et al. The Journal of pediatrics 2022 -
The modern face of newborn screening.
Chien Yin-Hsiu et al. Pediatrics and neonatology 2022
Pharmacogenomics
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Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate.
Nijenhuis Marga et al. European journal of human genetics : EJHG 2022 -
Establishing a Longitudinal Opioid Pharmacogenomic Registry for Cancer Patients: Feasibility and Acceptability.
Philip Jennifer et al. Journal of palliative medicine 2022 -
Effectiveness of pharmacogenomic tests including CYP2D6 and CYP2C19 genomic variants for guiding the treatment of depressive disorders: Systematic review and meta-analysis of randomized controlled trials.
Danilo Arnone et al. Neuroscience and biobehavioral reviews 2022 104965
Reproductive Health
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Atypicality index: avoiding false reassurance in prenatal screening.
Kristensen S E et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2022