Published on 03/10/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha Shruti et al. Genome medicine 2022 14(1) 23 -
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.
Jegathisawaran Jathishinie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
Goetz Violette et al. Molecular genetics and metabolism 2022 -
Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study.
Sager Gunes et al. Epilepsy & behavior : E&B 2022 129108626 -
Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network.
Quinn Jessica et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 19 -
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo María et al. NPJ genomic medicine 2022 7(1) 17 -
Exploring polygenic contributors to subgroups of comorbid conditions in autism spectrum disorder.
Klein Louis et al. Scientific reports 2022 12(1) 3416 -
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
Barua Subit et al. Molecular cytogenetics 2022 15(1) 7
Cancer Genomics
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Nontumor related risk score: A new tool to improve prediction of prognosis after hepatectomy for colorectal liver metastases.
Sasaki Kazunari et al. Surgery 2022 -
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Hol Janna A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2102510 -
Association Between a 22-feature Genomic Classifier and Biopsy Gleason Upgrade During Active Surveillance for Prostate Cancer.
Press Benjamin H et al. European urology open science 2022 37113-119 -
Complementing Tissue Testing With Plasma Mutation Profiling Improves Therapeutic Decision-Making for Patients With Lung Cancer.
Choudhury Yukti et al. Frontiers in medicine 2022 9758464 -
A prediction model integrated genomic alterations and immune signatures of tumor immune microenvironment for early recurrence of stage I NSCLC after curative resection.
Hu Chunhong et al. Translational lung cancer research 2022 11(1) 24-42 -
Concordance between core needle biopsy and surgical excision for breast cancer tumor grade and biomarkers.
Shanmugalingam Aswin et al. Breast cancer research and treatment 2022
Hereditary Cancer
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Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
Guzauskas Gregory F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Racial Disparities in Prostate Cancer: Evaluation of Diet, Lifestyle, Family History, and Screening Patterns.
Hansen Megan et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 -
Toward a better understanding of the experience of patients with moderate penetrance breast cancer gene pathogenic/likely pathogenic variants: A focus on ATM and CHEK2.
McCormick Shelley et al. Journal of genetic counseling 2022 -
Hereditary cancer risk assessment and genetic testing in the community urology practice setting.
Shore Neal D et al. The Prostate 2022 -
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis.
Leite Rocha Débora et al. Expert review of molecular diagnostics 2022 -
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
Castillo-Guardiola Verónica et al. European journal of medical genetics 2022 104468 -
Room for improvement in capturing cancer family history in a gynecologic oncology outpatient setting.
Lin Jenny et al. Gynecologic oncology reports 2022 40100941 -
Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength.
Fanale Daniele et al. Frontiers in oncology 2022 12827822
Chronic Disease
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Effects of Testing and Disclosing Ancestry-Specific Genetic Risk for Kidney Failure on Patients and Health Care Professionals: A Randomized Clinical Trial.
Nadkarni Girish N et al. JAMA network open 2022 5(3) e221048
Ethics/Policy/Law
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Sociotechnical safeguards for genomic data privacy.
Wan Zhiyu et al. Nature reviews. Genetics 2022 -
Anti-Selection & Genetic Testing in Insurance: An Interdisciplinary Perspective.
Golinghorst Dexter et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2022 50(1) 139-154
Practice
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Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
O'Daniel Julianne M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Re-imagining 'the patient': Linked lives and lessons from genomic medicine.
Weller Susie et al. Social science & medicine (1982) 2022 297114806 -
Predicting eating disorder and anxiety symptoms using disorder-specific and transdiagnostic polygenic scores for anorexia nervosa and obsessive-compulsive disorder.
Yilmaz Zeynep et al. Psychological medicine 2022 1-15 -
Putting Genetics to Work in the Psychiatric Clinic.
McMahon Francis J et al. The American journal of psychiatry 2022 179(3) 182-188 -
Finding the broken helix: The mainstreaming of genomic medicine into clinical biochemistry.
Sodi Ravinder et al. Annals of clinical biochemistry 2022 45632221080044 -
Gene Therapy Evidence Generation and Economic Analysis: Pragmatic Considerations to Facilitate Fit-for-Purpose Health Technology Assessment.
Qiu Tingting et al. Frontiers in public health 2022 10773629
Heart, Lung, Blood and Sleep Diseases
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Evinacumab for the treatment of homozygous familial hypercholesterolemia.
Gao Yanli et al. Expert review of clinical pharmacology 2022 1-7 -
Changes in Serum Lipid Profiles in Patients with Familial Hypercholesterolemia Who Smoke: A Pilot Study.
Wang Yaodong et al. Discovery medicine 2022 32(166) 79-86 -
Mipomersen in Familial Hypercholesterolemia: An Update on Health-Related Quality of Life and Patient-Reported Outcomes.
Chambergo-Michilot Diego et al. Vascular health and risk management 2022 1873-80 -
Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning.
Németh Ákos et al. Frontiers in genetics 2022 13849197 -
Familial risk of atrioventricular block in first-degree relatives.
Dyssekilde Johnni Resdal et al. Heart (British Cardiac Society) 2022 -
Homozygous Familial Hypercholesterolaemia International Clinical Collaboration (HICC) registry: Levelling up access to treatment urgently needed.
Stock Jane K et al. Atherosclerosis 2022 -
Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.
Chahine Mohamed et al. Journal of the American Heart Association 2022 e023446 -
Hereditary hemochromatosis and liver transplantation: a survey of symptoms, lifestyle, and physician counseling pre- and post-transplant.
Zaver Himesh B et al. Clinics and research in hepatology and gastroenterology 2022 101898 -
Elevated Lipoprotein(a) Level Influences Familial Hypercholesterolemia Diagnosis.
Chubykina Uliana V et al. Diseases (Basel, Switzerland) 2022 10(1) -
Advances in the diagnosis and treatment of sickle cell disease.
Brandow A M et al. Journal of hematology & oncology 2022 15(1) 20 -
Estimating the risk of child mortality attributable to sickle cell anaemia in sub-Saharan Africa: a retrospective, multicentre, case-control study.
Ranque Brigitte et al. The Lancet. Haematology 2022 9(3) e208-e216 -
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.
Portilla-Fernandez Eliana et al. Human molecular genetics 2022
Newborn Screening
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Making Decisions About Krabbe Disease Newborn Screening.
Schrier Vergano Samantha A et al. Pediatrics 2022 -
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.
Moser Ann B et al. International journal of neonatal screening 2022 8(1) -
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Held Patrice K et al. International journal of neonatal screening 2022 8(1) -
Genomics and Newborn Screening: Perspectives of Public Health Programs.
Goldenberg Aaron J et al. International journal of neonatal screening 2022 8(1)
Pharmacogenomics
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Genetic-Guided Pharmacotherapy for Atrial Fibrillation: A Systematic and Critical Review of Economic Evaluations.
Kamil Ahmad Amir et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2022 25(3) 461-472 -
Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach.
Cearns Micah et al. The British journal of psychiatry : the journal of mental science 2022 1-10
Reproductive Health
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Non-invasive preimplantation genetic testing: a literature review.
Sousa Larissa Nogueira et al. JBRA assisted reproduction 2022 -
Factors Affecting the Willingness to Undertake Premarital Screening Test Among Prospective Marital Individuals.
Alkalbani Ali et al. SAGE open nursing 2022 823779608221078156