Published on 03/28/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
How much further do we need to decrease LDL cholesterol levels in heterozygous familial hypercholesterolemia?
Harada-Shiba Mariko et al. Atherosclerosis 2019 Mar
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
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
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