Published on 03/28/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano Marina T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar -
Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study.
Ronicke Simon et al. Orphanet journal of rare diseases 2019 Mar 14(1) 69 -
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.
Karaceper Maria D et al. Orphanet journal of rare diseases 2019 Mar 14(1) 70 -
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.
Sun Yan et al. Medicine 2019 Mar 98(12) e14860 -
A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873 -
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
Li Jinliang et al. Gene 2019 Mar -
Parent Perspectives Towards Genetic and Epigenetic Testing for Autism Spectrum Disorder.
Wagner Kayla E et al. Journal of autism and developmental disorders 2019 Mar
Cancer
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Total abdominal colectomy is cost-effective in treating colorectal cancer in patients with genetically diagnosed Lynch Syndrome.
Jiang Boxiang et al. American journal of surgery 2019 Mar -
Should women with a BRCA1/2 mutation aged 60 and older be offered intensified breast cancer screening? - A cost-effectiveness analysis.
Phi Xuan-Anh et al. Breast (Edinburgh, Scotland) 2019 Mar 4582-88 -
American Society of Breast Surgeons Recommends Genetic Testing for Newly Diagnosed Patients With Breast Cancer,
by Caroline Helwick, The ASCO Post, March 25, 2019 -
Machine learning and its potential applications to the genomic study of head and neck cancer - a systematic review.
Patil Shankargouda et al. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2019 Mar -
Diet assessment among men undergoing genetic counseling and genetic testing for inherited prostate cancer: Exploring a teachable moment to support diet intervention.
Milliron Brandy-Joe et al. The Prostate 2019 Mar -
A combinatorial biomarker predicts pathologic complete response to neoadjuvant lapatinib and trastuzumab without chemotherapy in patients with HER2+ breast cancer.
Veeraraghavan J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 Mar -
Measurable residual disease monitoring using Wilms tumor gene 1 expression in childhood acute myeloid leukemia based on child-specific reference values.
Løvvik Juul-Dam Kristian et al. Pediatric blood & cancer 2019 Mar e27671 -
Process evaluation of a behaviour change approach to improving clinical practice for detecting hereditary cancer.
Long Janet C et al. BMC health services research 2019 Mar 19(1) 180 -
Pathologic Features and Clinical Implications of Breast Cancer With HER2 Intratumoral Genetic Heterogeneity.
Muller Kristen E et al. American journal of clinical pathology 2019 Mar -
A dedicated high quality service for the management of patients with an inherited risk for colorectal cancer.
Adams Laura K et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2019 Mar -
Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2-visit consent model.
Johnson Liza-Marie et al. Cancer 2019 Mar -
Fully automated real-time PCR for EGFR testing in non-small cell lung carcinoma.
Colling Richard et al. Virchows Archiv : an international journal of pathology 2019 Feb 474(2) 187-192 -
Factors associated with intentions for breast cancer risk management: Does risk group matter?
Conley Claire C et al. Psycho-oncology 2019 Mar -
NCCN Prostate Cancer Update Emphasizes Germline Testing,
by Mary Caffrey, AJMC, March 22, 2019
Chronic Disease
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Accurate and rapid screening model for potential diabetes mellitus.
Pei Dongmei et al. BMC medical informatics and decision making 2019 Mar 19(1) 41 -
The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.
Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Mar 1-7 -
Introducing routine genetic testing for patients with CKD.
Vivante Asaf et al. Nature reviews. Nephrology 2019 Mar
Ethics/Policy/Law
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Disability inclusion in precision medicine research: a first national survey.
Sabatello Maya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar -
Genomic Research Through an Indigenous Lens: Understanding the Expectations.
Garrison Nanibaa' A et al. Annual review of genomics and human genetics 2019 Mar -
The continuing saga of patents and non-invasive prenatal testing.
Hawkins Naomi et al. Prenatal diagnosis 2019 Mar
Practice
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Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.
Zion Tricia N et al. Molecular genetics & genomic medicine 2019 Mar e630 -
Challenges in the Integration of Omics and Non-Omics Data.
López de Maturana Evangelina et al. Genes 2019 Mar 10(3) -
IGNITE network: Response of patients to genomic medicine interventions.
Orlando Lori A et al. Molecular genetics & genomic medicine 2019 Mar e636 -
Population-scale genomics-Enabling precision public health.
Sivadas Ambily et al. Advances in genetics 2019 103119-161 -
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Smith Erica D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar -
Personalized Medicine and the Power of Electronic Health Records.
Abul-Husn Noura S et al. Cell 2019 Mar 177(1) 58-69
Heart, Lung, Blood and Sleep Diseases
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How much further do we need to decrease LDL cholesterol levels in heterozygous familial hypercholesterolemia?
Harada-Shiba Mariko et al. Atherosclerosis 2019 Mar
Newborn Screening
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Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy.
Ke Qing et al. World journal of pediatrics : WJP 2019 Mar
Pharmacogenomics
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Current Progress in Pharmacogenetics of Second-Line Antidiabetic Medications: Towards Precision Medicine for Type 2 Diabetes.
Heo Chan Uk et al. Journal of clinical medicine 2019 Mar 8(3) -
Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.
Cavallari Larisa H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar -
Commercial Pharmacogenetic Tests in Psychiatry: Do they Facilitate the Implementation of Pharmacogenetic Dosing Guidelines?
Fan Mikayla et al. Pharmacopsychiatry 2019 Mar
Reproductive Health
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Expanded Preconception Carrier Screening in Clinical Practice: Review of Technology, Guidelines, Implementation Challenges, and Ethical Quandaries.
Zhang Ting et al. Clinical obstetrics and gynecology 2019 Mar -
Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell-free DNA.
Holzer Iris et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2019 Mar -
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar