Published on 10/10/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Delays in diagnosis of Duchenne muscular dystrophy: an evaluation of genotypic and sociodemographic factors.
Counterman Kevin J et al. Muscle & nerve 2019 Oct -
Implementation of Epilepsy Multi-gene Panel Testing in Ontario, Canada.
Dyment David A et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2019 Oct 1-22 -
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.
Akers Amy et al. Neurosurgery 2017 May 80(5) 665-680 -
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Jang Se Song et al. Frontiers in neurology 2019 10988 -
Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.
McGlynn Julie A et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi Berardo et al. Orphanet journal of rare diseases 2017 12(1) 69 -
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower Alexandra et al. Scientific reports 2019 Oct 9(1) 14098 -
A pediatric perspective on genomics and prevention in the twenty-first century.
Chaudhari Bimal P et al. Pediatric research 2019 Oct
Cancer
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BRCA1/2 somatic mutation detection in formalin-fixed paraffin embedded tissue by next-generation sequencing in Korean ovarian cancer patients.
Lee Ahwon et al. Pathology, research and practice 2019 Aug 152595 -
Prostate Cancer Risk Stratification in Men With a Clinical Suspicion of Prostate Cancer Using a Unique Biparametric MRI and Expression of 11 Genes in Apparently Benign Tissue: Evaluation Using Machine-Learning Techniques.
Montoya Perez Ileana et al. Journal of magnetic resonance imaging : JMRI 2019 Oct -
BRCA testing in unaffected young women in the United States, 2006-2017.
Guo Fangjian et al. Cancer 2019 Sep -
Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.
Ikenoue Tsuneo et al. Journal of human genetics 2019 Oct -
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.
McNulty Samantha N et al. American journal of human genetics 2019 Oct 105(4) 734-746 -
Fit-For-Purpose PD-L1 Biomarker Testing For Patient Selection in Immuno-Oncology: Guidelines For Clinical Laboratories From the Canadian Association of Pathologists-Association Canadienne Des Pathologistes (CAP-ACP).
Cheung Carol C et al. Applied immunohistochemistry & molecular morphology : AIMM 2019 Oct -
Whole genome and biomarker analysis of patients with recurrent glioblastoma on bevacizumab: A subset analysis of the CABARET trial.
Olafson Lauren R et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Sep -
The "Psychosocial Aspects in Hereditary Cancer" questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French-, German- and Spanish-language versions.
Br?dart Anne et al. European journal of cancer care 2019 Sep e13173 -
Oncotype DX recurrence score implications for disparities in chemotherapy and breast cancer mortality in Georgia.
Collin Lindsay J et al. NPJ breast cancer 2019 532 -
Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
Slavin Thomas P et al. Journal of geriatric oncology 2019 Sep -
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
Wu Bohua et al. International journal of molecular sciences 2019 Sep 20(19) -
[Interpretation of the updates of NCCN 2017 version 1.0 guideline for colorectal cancer].
Chen Gong et al. Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2017 Jan 20(1) 28-33 -
Genetic testing in ovarian cancer - clinical impact and current practices.
Knabben Laura et al. Hormone molecular biology and clinical investigation 2019 Oct -
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos Elisabeth et al. Clinical genetics 2019 Oct
Chronic Disease
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Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003 -
Approach to Assessment of Parkinson Disease with Emphasis on Genetic Testing.
Payne Katelyn et al. The Medical clinics of North America 2019 Nov 103(6) 1055-1075 -
European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2019.
Husby Steffen et al. Journal of pediatric gastroenterology and nutrition 2019 Sep
Ethics/Policy/Law
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Genetic Testing: Consent and Result Disclosure for Primary Care Providers.
Faucett W Andrew et al. The Medical clinics of North America 2019 Nov 103(6) 967-976 -
How is the trade-off between adverse selection and discrimination risk affected by genetic testing? Theory and experiment.
Bardey David et al. Journal of health economics 2019 Sep 68102223 -
How does emerging patent case law in the US and Europe affect precision medicine?
Aboy Mateo et al. Nature biotechnology 2019 Oct 37(10) 1118-1125
Practice
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Family Health History: The First Genetic Test in Precision Medicine.
Bennett Robin L et al. The Medical clinics of North America 2019 Nov 103(6) 957-966 -
Family Screening and Genetic Counseling.
Perge Pál et al. Experientia supplementum (2012) 2019 11129-32 -
Evolving Roles of Genetic Counselors in the Clinical Laboratory.
Cho Megan T et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Genetic Counseling and the Central Tenets of Practice.
Biesecker Barbara et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Evaluating Empowerment in Genetic Counseling Using Patient Reported Outcomes.
Yuen Jeanette et al. Clinical genetics 2019 Sep -
Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.
Crellin Erin et al. Frontiers in genetics 2019 10789
Heart, Lung, Blood and Sleep Diseases
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Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Demo Erin et al. The Medical clinics of North America 2019 Nov 103(6) 1005-1019 -
A Person-Centered Approach to Cardiovascular Genetic Testing.
Platt Julia et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment.
Ellis Katrina L et al. Clinical genetics 2019 Sep -
Thalassemia and Hemoglobinopathies in an Ethnic Minority Group in Northern Vietnam.
Anh Tuan Mai et al. Hemoglobin 2019 Oct 1-5 -
How to implement clinical guidelines to optimise familial hypercholesterolaemia diagnosis and treatment.
Farnier Michel et al. Atherosclerosis. Supplements 2017 Apr 2625-35 -
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE.
Jellinger Paul S et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017 Apr 23(Suppl 2) 1-87 -
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE - EXECUTIVE SUMMARY Complete Appendix to Guidelines available at http://journals.aace.com .
Jellinger Paul S et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017 Apr 23(4) 479-497 -
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.
Dietz Andrew C et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Sep 23(9) 1422-1428 -
Genetics and pharmacogenetics in the diagnosis and therapy of cardiovascular diseases.
Krasi Geraldo et al. Acta bio-medica : Atenei Parmensis 2019 Sep 90(10-S) 7-19 -
Knowledge and Beliefs Regarding Thalassemia in an Urban Population.
Ebrahim Sidra et al. Cureus 2019 Jul 11(7) e5268 -
Role of Biomarkers for the Prevention, Assessment, and Management of Heart Failure: A Scientific Statement From the American Heart Association.
Chow Sheryl L et al. Circulation 2017 May 135(22) e1054-e1091 -
Universal screening for social determinants of health in pediatric sickle cell disease: A quality-improvement initiative.
Power-Hays Alexandra et al. Pediatric blood & cancer 2019 Oct e28006 -
Clinical application of chromosome 9p21.3 genotyping in patients with coronary artery disease.
Nikulina Svetlana et al. Experimental and therapeutic medicine 2019 Oct 18(4) 3100-3108 -
Molecular and Genetic Testing in Thrombosis and Hemostasis.
Rabbolini David John et al. Seminars in thrombosis and hemostasis 2019 Oct 45(7) 657-660 -
Evaluation of Outcomes and Quality of Care in Children with Sickle Cell Disease Diagnosed by Newborn Screening: A Real-World Nation-Wide Study in France.
Brousse Valentine et al. Journal of clinical medicine 2019 Oct 8(10)
Newborn Screening
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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Fleige Tobias et al. European journal of human genetics : EJHG 2019 Sep -
Priorities for Newborn Screening of Genetic Epilepsy.
Hess-Homeier David L et al. Pediatric neurology 2019 Jul
Pharmacogenomics
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Pharmacogenomics: Prescribing Precisely.
Wake Dyson T et al. The Medical clinics of North America 2019 Nov 103(6) 977-990 -
A stepwise approach to implementing pharmacogenetic testing in the primary care setting.
Weitzel Kristin Wiisanen et al. Pharmacogenomics 2019 Oct 20(15) 1103-1112 -
Pharmacogenetics and the treatment of epilepsy: what do we know?
Božina Nada et al. Pharmacogenomics 2019 Oct 20(15) 1093-1101
Reproductive Health
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Impact of Emerging Technologies in Prenatal Genetic Counseling.
Stevens Blair et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Southeast Asian Pharmacogenomics Research Network (SEAPharm): Current Status and Perspectives.
Chumnumwat Supatat et al. Public health genomics 2019 Oct 1-8 -
GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
Schuurmans Juliette et al. European journal of human genetics : EJHG 2019 Sep -
Genetic Counseling and Assisted Reproductive Technologies.
Lilienthal Debra et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Genetic Causes of Female Infertility.
Beke Artur et al. Experientia supplementum (2012) 2019 111367-383 -
Monogenic Forms of Male Infertility.
Krausz Csilla et al. Experientia supplementum (2012) 2019 111341-366 -
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo Antonio et al. PLoS genetics 2019 Oct 15(10) e1008409 -
Update on Prenatal Laboratory Screening: Joint Commission Required Elements.
Tepper Jared L et al. NeoReviews 2019 Oct 20(10) e584-e591