Published on 07/14/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus.
de Blank Peter M K et al. Neuro-oncology 2022 -
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang Tong et al. Molecular genetics and metabolism 2022 -
Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?
Arslan Zainab et al. Pediatric nephrology (Berlin, Germany) 2022 -
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Li Marilyn M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24(7) 1392-1406 -
Experiences of genetic testing among individuals with retinitis pigmentosa.
Krauss Emily et al. Ophthalmic genetics 2022 1-8 -
Epidemiology, treatment and burden of Wilson Disease in France: a 10-year analysis of the National Health Insurance Database.
Daniel-Robin Thomas et al. Clinics and research in hepatology and gastroenterology 2022 101992 -
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.
Regier Debra S et al. Molecular genetics and metabolism reports 2022 31100855 -
Patients with Retinitis Pigmentosa May Have a Higher Risk of Developing Open-Angle Glaucoma.
Hung Man-Chen et al. Journal of ophthalmology 2022 20229719095 -
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Freire Bruna Lucheze et al. American journal of medical genetics. Part A 2022 -
Psychiatric polygenic risk scores: Child and adolescent psychiatrists' knowledge, attitudes, and experiences.
Pereira Stacey et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2022 -
Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting.
Bajaj Shruti et al. Indian journal of ophthalmology 2022 70(7) 2564-2569
Cancer Genomics
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Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia.
Matos Sónia et al. Cancers 2022 14(13) -
Challenges and Obstacles in Applying Therapeutical Indications Formulated in Molecular Tumor Boards.
Crimini Edoardo et al. Cancers 2022 14(13) -
The 21-Gene Recurrence Score in Clinically High-Risk Lobular and Ductal Breast Cancer: A National Cancer Database Study.
Abel Mary Kathryn et al. Annals of surgical oncology 2022 -
Return of comprehensive tumour genomic profiling results to advanced cancer patients: a qualitative study.
Best Megan C et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2022 -
Impact of Molecular Tumor Board on the Clinical Management of Patients With Cancer.
Behel Vichitra et al. JCO global oncology 2022 8e2200030 -
Evaluating the quality of the economic evidence in colorectal cancer genomics studies.
Chaudhari Vivek S et al. Personalized medicine 2022 -
Risk and benefit for umbrella trials in oncology: a systematic review and meta-analysis.
Strzebonska Karolina et al. BMC medicine 2022 20(1) 219 -
Rb tumor suppressor in small cell lung cancer: Combined genomic and immunohistochemical analysis with a description of a distinct Rb-proficient subset.
Febres Aldana Christopher A et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
Liquid First Is "Solid" in Naïve Non-Small Cell Lung Cancer Patients: Faster Turnaround Time With High Concordance to Solid Next-Generation Sequencing.
Sehayek Or et al. Frontiers in oncology 2022 12912801
Hereditary Cancer
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Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care.
Casolino Raffaella et al. Cancers 2022 14(13) -
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome.
Kang Yoon-Jung et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling.
Pfledderer Christopher D et al. Journal of genetic counseling 2022 -
Randomised trial of population based BRCA testing in Ashkenazi Jews: Long term secondary lifestyle behavioural outcomes.
Burnell Matthew et al. BJOG : an international journal of obstetrics and gynaecology 2022 -
The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
Atwal Amit et al. International journal of cancer 2022
Chronic Disease
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Gene Therapy in Amyotrophic Lateral Sclerosis.
Fang Ton et al. Cells 2022 11(13) -
Adherence to MIND Diet, Genetic Susceptibility, and Incident Dementia in Three US Cohorts.
Vu Thanh Huyen T et al. Nutrients 2022 14(13) -
Identification of Putative Causal Relationships Between Type 2 Diabetes and Blood-Based Biomarkers in East Asians by Mendelian Randomization.
Zhang Haoyang et al. American journal of epidemiology 2022 -
Associations Between DNA Methylation Age Acceleration, Depressive Symptoms, and Cardiometabolic Traits in African American Mothers From the InterGEN Study.
Perez Nicole Beaulieu et al. Epigenetics insights 2022 1525168657221109781
Practice
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Gene-Environment Interactions in Vitamin D Status and Sun Exposure: A Systematic Review with Recommendations for Future Research.
Shraim Rasha et al. Nutrients 2022 14(13) -
Digital health-enabled genomics: Opportunities and challenges.
Bombard Yvonne et al. American journal of human genetics 2022 109(7) 1190-1198 -
A mixed-method study exploring experiences, perceptions, and acceptability of using a safe delivery mHealth application in two district hospitals in Rwanda.
Nishimwe Aurore et al. BMC nursing 2022 21(1) 176 -
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller David T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24(7) 1407-1414 -
Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.
King Charlie et al. Journal of genetic counseling 2022 -
Recommendations to encourage participation of individuals from diverse backgrounds in psychiatric genetic studies.
MacDermod Casey et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2022 -
Cross-Platform Omics Prediction procedure: a statistical machine learning framework for wider implementation of precision medicine.
Wang Kevin Y X et al. NPJ digital medicine 2022 5(1) 85
Heart, Lung, Blood and Sleep Diseases
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Sickle Cell Disease: A Review.
Kavanagh Patricia L et al. JAMA 2022 328(1) 57-68 -
Inhaled nitric oxide for treating pain crises in people with sickle cell disease.
Aboursheid Tarek et al. The Cochrane database of systematic reviews 2022 7CD011808 -
Association Between Familial Hypercholesterolemia and Risk of Cardiovascular Events and Death in Different Cohorts: A Meta-Analysis of 1.1 Million Subjects.
Yu Yani et al. Frontiers in cardiovascular medicine 2022 9860196 -
The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-A systematic review and meta-analysis.
Cirino Allison L et al. Journal of genetic counseling 2022 -
Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.
Dikilitas Ozan et al. Current cardiology reports 2022 -
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Schmidlen Tara J et al. Frontiers in genetics 2022 13867226 -
Establishing the relationship between Familial Dysbetalipoproteinemia and genetic variants in the APOE gene.
Heidemann Britt E et al. Clinical genetics 2022
Newborn Screening
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Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.
Chen Hui-An et al. Molecular genetics and metabolism 2022
Pharmacogenomics
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The Impact of Pharmacogenetics on Pharmacokinetics and Pharmacodynamics in Neonates and Infants: A Systematic Review.
Yalçin Nadir et al. Pharmacogenomics and personalized medicine 2022 15675-696 -
Pharmacogenetics: A Precision Medicine Approach to Combatting the Opioid Epidemic.
Smith D Max et al. Journal of the American College of Clinical Pharmacy : JACCP 2022 5(2) 239-250
Reproductive Health
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Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.
Wang Wenli et al. Orphanet journal of rare diseases 2022 17(1) 253 -
Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.
Johnson Kylie et al. Journal of genetic counseling 2022 -
Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement.
Nakano Tatsuya et al. Reproductive medicine and biology 2022 21(1) e12476 -
Factors associated with US and Canadian genetic counselors' testing decisions during pregnancy.
Isaacs Alexandra E et al. Journal of genetic counseling 2022 -
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao Min et al. Frontiers in medicine 2022 9936578