Published on 10/31/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations.
Munung Nchangwi Syntia et al. Frontiers in genetics 2019 10943
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
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
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
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
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