Published on 10/31/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care.
Avery Robert A et al. Ophthalmology 2017 124(1) 123-132 -
Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know?
Bijarnia-Mahay Sunita et al. Indian pediatrics 2019 Sep 56(9) 757-766 -
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing.
Pope Marita Knudsen et al. Genetic testing and molecular biomarkers 2019 Oct -
DiGeorge Syndrome Chromosome Region Deletion and Duplication: Prenatal Genotype-Phenotype Variability in Fetal Ultrasound and MRI.
Tramontana Allessandra et al. Prenatal diagnosis 2019 Oct
Cancer
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Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.
Pantaleao Ashley et al. Family process 2019 Oct -
A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions.
Sim Yirong et al. BMC medical genomics 2019 Oct 12(1) 142 -
Outcomes of women at high familial risk for breast cancer: An 8-year single-center experience.
Lammert Jacqueline et al. Asia-Pacific journal of clinical oncology 2019 Oct -
Machine Learning by Ultrasonography for Genetic Risk Stratification of Thyroid Nodules.
Daniels Kelly et al. JAMA otolaryngology-- head & neck surgery 2019 Oct 1-6 -
Identification of a New Eight-Long Noncoding RNA Molecular Signature for Breast Cancer Survival Prediction.
Zhang Yaqiong et al. DNA and cell biology 2019 Oct -
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo Xi et al. Blood advances 2019 Oct 3(20) 2962-2979 -
Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?
Kotsopoulos Joanne et al. Menopause (New York, N.Y.) 2019 Oct -
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam Rachid et al. JAMA network open 2019 Oct 2(10) e1913900 -
Circulating tumor cell free DNA from plasma and urine in the clinical management of colorectal cancer.
Yu Haiying et al. Cancer biomarkers : section A of Disease markers 2019 Oct -
Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.
Breit Caroline et al. American journal of surgery 2019 Oct -
Whole genome sequencing of apparently mutation-negative MEN1 patients.
Backman Samuel et al. European journal of endocrinology 2019 Oct -
A comprehensive understanding of ovarian carcinoma survival prognosis by novel biomarkers.
Wang Y et al. European review for medical and pharmacological sciences 2019 Oct 23(19) 8257-8264 -
Cost-Effectiveness Analysis of Upfront SBRT for Oligometastatic Stage IV Non-Small Cell Lung Cancer Based on Mutational Status.
Kim Hayeon et al. American journal of clinical oncology 2019 Nov 42(11) 837-844 -
Alaska Native Patient and Provider Perspectives on the Multitarget Stool DNA Test Compared With Colonoscopy for Colorectal Cancer Screening.
Redwood Diana G et al. Journal of primary care & community health 102150132719884295 -
Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases.
Katsidzira Leolin et al. PloS one 2019 14(10) e0224023 -
Cost-comparison analysis of a multiplatform tumour profiling service to guide advanced cancer treatment.
Spizzo Gilbert et al. Cost effectiveness and resource allocation : C/E 2019 1723
Chronic Disease
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Clinical implications of recent advances in primary open-angle glaucoma genetics.
Choquet Hélène et al. Eye (London, England) 2019 Oct -
Cognitive Screening Tests in Huntington Gene Mutation Carriers: Examining the Validity of the Mini-Mental State Examination and the Montreal Cognitive Assessment.
Ringkøbing Signe Pertou et al. Journal of Huntington's disease 2019 Oct -
Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.
Boursier Guilaine et al. Journal of clinical medicine 2019 Oct 8(10) -
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst Lotte et al. European journal of endocrinology 2019 Oct
Ethics/Policy/Law
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Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations.
Munung Nchangwi Syntia et al. Frontiers in genetics 2019 10943
Practice
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Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees.
Al Bakir Ibrahim et al. BMJ open 2019 Oct 9(10) e030505 -
Awareness of family health history in a predominantly young adult population.
Madhavan Sarina et al. PloS one 2019 14(10) e0224283 -
Cost-effectiveness of precision medicine: a scoping review.
Kasztura Miriam et al. International journal of public health 2019 Oct
Heart, Lung, Blood and Sleep Diseases
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Biomarkers in cardiovascular medicine: towards precision medicine.
Menosi Gualandro Danielle et al. Swiss medical weekly 2019 Oct 149w20125 -
A consensus statement on lipid management after acute coronary syndrome.
Schiele Fran?ois et al. European heart journal. Acute cardiovascular care 2018 Sep 7(6) 532-543 -
Veno-occlusive disease/sinusoidal obstruction syndrome after haematopoietic stem cell transplantation: Middle East/North Africa regional consensus on prevention, diagnosis and management.
Al Jefri A H et al. Bone marrow transplantation 2017 Apr 52(4) 588-591 -
Mothers' intentions and behaviours regarding providing risk communication to their daughters about their possibility of being haemophilia carriers: A qualitative study.
Fujii Tomie et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Oct -
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation.
Goodyer William R et al. Circulation. Genomic and precision medicine 2019 Oct -
'Well, I knew this already' - explaining personal genetic risk information through narrative meaning-making.
Snell Karoliina et al. Sociology of health & illness 2019 Oct -
Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
Ooi Chee Y et al. BMC pediatrics 2019 Oct 19(1) 369 -
Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa.
Bailly C et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2019 Aug 109(9) 673-678 -
[ECS guidelines 2016 - dyslipidaemias].
Sinning D et al. Herz 2016 Dec 41(8) 671-676
Newborn Screening
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Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Lee Hyunjoo et al. Yonsei medical journal 2019 Nov 60(11) 1061-1066 -
Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner Katharina et al. Molecular genetics and metabolism reports 2019 Dec 21100514
Pharmacogenomics
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Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.
Caudle Kelly E et al. Clinical and translational science 2019 Oct -
The future of pharmacogenetics in the treatment of migraine.
Borro Marina et al. Pharmacogenomics 2019 Oct -
Pharmacogenomics as a tool to prevent drug-related hospitalization of elderly cardiology-oncology patients receiving chemotherapeutic agents and multiple symptomatic treatments: a pilot study planned for the Italian health system.
Di Francia R et al. European review for medical and pharmacological sciences 2019 Oct 23(19) 8695-8701
Reproductive Health
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Commentary: Expanded carrier screening: how much is too much?
Wapner Ronald J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(9) 1927-1930