Published on 02/10/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Kang Eungu et al. Orphanet journal of rare diseases 2022 17(1) 24 -
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia Belen et al. Journal of medical genetics 2022 -
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.
Shamriz Oded et al. European journal of pediatrics 2022 -
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Palmquist Rachel et al. Pediatric research 2022 -
Prediction of More Severe MEFV Gene Mutations in Childhood.
Günes-Yilmaz Seviye et al. Turkish archives of pediatrics 2022 56(6) 610-617 -
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.
Neubauer Jacqueline et al. Pediatric research 2022 -
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum Juliana M F et al. Advances in therapy 2022 -
The changing therapeutic landscape of spinal muscular atrophy.
Davidson Joanne E et al. Australian journal of general practice 2022 51(1-2) 38-42
Cancer Genomics
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Clinical Significance and Potential Role of LSM4 Overexpression in Hepatocellular Carcinoma: An Integrated Analysis Based on Multiple Databases.
Chen Liang et al. Frontiers in genetics 2022 12804916 -
Randomized Trial of First-Line Tyrosine Kinase Inhibitor With or Without Radiotherapy for Synchronous Oligometastatic EGFR-Mutated NSCLC.
Wang Xiao-Shan et al. Journal of the National Cancer Institute 2022 -
Alignment of health plan coverage policies for somatic multigene panel testing with clinical guidelines in select solid tumors.
Wong William B et al. Personalized medicine 2022 -
TTN/TP53 mutation might act as the predictor for chemotherapy response in lung adenocarcinoma and lung squamous carcinoma patients.
Xue Dan et al. Translational cancer research 2022 10(3) 1284-1294 -
High expression of TXNDC11 indicated unfavorable prognosis of glioma.
Peng Peng et al. Translational cancer research 2022 10(12) 5040-5051 -
Plasma Cell-Free DNA Testing of Patients With EGFR Mutant Non-Small-Cell Lung Cancer: Droplet Digital PCR Versus Next-Generation Sequencing Compared With Tissue-Based Results.
Steendam Christi M J et al. JCO precision oncology 2022 31-9 -
Outcomes in Patients With Pancreatic Adenocarcinoma With Genetic Mutations in DNA Damage Response Pathways: Results From the Know Your Tumor Program.
Pishvaian Michael J et al. JCO precision oncology 2022 31-10 -
Atypical RAS Mutations in Metastatic Colorectal Cancer.
Pietrantonio Filippo et al. JCO precision oncology 2022 31-11 -
Palbociclib in Patients With Pancreatic and Biliary Cancer With CDKN2A Alterations: Results From the Targeted Agent and Profiling Utilization Registry Study.
Al Baghdadi Tareq et al. JCO precision oncology 2022 31-8 -
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE Study.
Kondrashova Olga et al. JCO precision oncology 2022 31-18 -
Comutation of PIK3CA and TP53 in Residual Disease After Preoperative Anti-HER2 Therapy in ERBB2 (HER2)-Amplified Early Breast Cancer.
Holmes Frankie Ann et al. JCO precision oncology 2022 31-26 -
Economic Impact of Next-Generation Sequencing Versus Single-Gene Testing to Detect Genomic Alterations in Metastatic Non-Small-Cell Lung Cancer Using a Decision Analytic Model.
Pennell Nathan A et al. JCO precision oncology 2022 31-9 -
Experiences of a Multidisciplinary Genomic Tumor Board Interpreting Risk for Underlying Germline Variants in Tumor-Only Sequencing Results.
Fishler Kristen P et al. JCO precision oncology 2022 31-8 -
Development and validation of a deep-learning model for detecting brain metastases on 3D post-contrast MRI: a multi-center multi-reader evaluation study.
Yin Shaohan et al. Neuro-oncology 2022 -
Tumor mutational burden predicts the efficacy of pembrolizumab monotherapy: a pan-tumor retrospective analysis of participants with advanced solid tumors.
Cristescu Razvan et al. Journal for immunotherapy of cancer 2022 10(1) -
Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.
Garmezy Benjamin et al. JCO precision oncology 2022 6e2100267 -
Distinct Genomic Landscapes in Early-Onset and Late-Onset Endometrial Cancer.
Choi Jungyoon et al. JCO precision oncology 2022 6e2100401 -
A Predictor Combining Clinical and Genetic Factors for AML1-ETO Leukemia Patients.
Yang Min et al. Frontiers in oncology 2022 11783114
Hereditary Cancer
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Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description.
Ritchie Jordon B et al. JMIR cancer 2022 8(1) e29289 -
Challenges and opportunities in the establishment of a hereditary breast cancer clinic at an academic medical center in a low-middle income country.
Ehsan Lubaina et al. Journal of genetic counseling 2022 -
Evaluation of a mainstream genetic testing program for women with ovarian or breast cancer.
Ip Emilia et al. Asia-Pacific journal of clinical oncology 2022 -
Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.
Uson P L S et al. Digestive diseases and sciences 2022 -
Screening and identification of Lynch syndrome: a systematic review of the frequency of Lynch syndrome-associated clinicopathologic and molecular characteristics in Lynch syndrome gynecologic cancers.
Yang Zihui et al. Translational cancer research 2022 10(10) 4523-4531 -
Parents', Health Care Professionals', and Scientists' Experiences of a Precision Medicine Pilot Trial for Patients With High-Risk Childhood Cancer: A Qualitative Study.
Vetsch Janine et al. JCO precision oncology 2022 31-11 -
Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes.
Moody Emily W et al. JCO precision oncology 2022 31-8
Chronic Disease
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Differences in genetic risk score profiles for drug use disorder, major depression, and ADHD as a function of sex, age at onset, recurrence, mode of ascertainment, and treatment.
Kendler Kenneth S et al. Psychological medicine 2022 1-13 -
Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.
Pagnon de la Vega María et al. BMC genomics 2022 23(1) 99 -
Aerobic Exercise Training-Induced Changes on DNA Methylation in Mild Cognitively Impaired Elderly African Americans: Gene, Exercise, and Memory Study - GEMS-I.
Ngwa Julius S et al. Frontiers in molecular neuroscience 2022 14752403 -
Association of rs13429458 and rs12478601 Single Nucleotide Polymorphisms of THADA Gene with Polycystic Ovary Syndrome.
Naserpoor Leila et al. International journal of fertility & sterility 2022 16(1) 36-41
Ethics/Policy/Law
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Informed consent, genomic research and mental health: A integrative review.
Kilkku Nina et al. Nursing ethics 2022 9697330211066573
Practice
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The stepwise process of integrating a genetic counsellor into primary care.
Slomp Caitlin et al. European journal of human genetics : EJHG 2022 -
A Model for Design and Implementation of a Laboratory Information Management System Specific for Molecular Pathology Laboratory Operations.
Tomlinson Eban et al. The Journal of molecular diagnostics : JMD 2022
Heart, Lung, Blood and Sleep Diseases
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American Heart Association's Life's Simple 7: Lifestyle Recommendations, Polygenic Risk, and Lifetime Risk of Coronary Heart Disease.
Hasbani Natalie R et al. Circulation 2022 -
Process and strategies for patient engagement and outreach in the Sickle Cell Disease (SCD) community to promote clinical trial participation.
Byrnes C et al. Journal of the National Medical Association 2022 -
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Tromp Tycho R et al. Lancet (London, England) 2022 -
Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy.
Huggins Gordon S et al. JAMA 2022 327(5) 454-463
Newborn Screening
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Newborn screening for spinal muscular atrophy: The Wisconsin first year experience.
Baker Mei W et al. Neuromuscular disorders : NMD 2022
Pharmacogenomics
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Impact of CYP2C19 metaboliser status on SSRI response: a retrospective study of 9500 participants of the Australian Genetics of Depression Study.
Campos Adrian I et al. The pharmacogenomics journal 2022 -
The Value of Pharmacogenetics to Reduce Drug-Related Toxicity in Cancer Patients.
Mhandire Doreen Z et al. Molecular diagnosis & therapy 2022
Reproductive Health
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Preimplantation genetic testing for aneuploidy (PGT-A)-a single-center experience.
Nair Jiny et al. Journal of assisted reproduction and genetics 2022 -
Is Cell-free fetal DNA testing a safe option for women in a high-risk population after combined first-trimester testing?
Dap Matthieu et al. Journal of gynecology obstetrics and human reproduction 2022 102329 -
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies.
Chen Yisheng et al. American journal of medical genetics. Part A 2022