Published on 03/03/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa Hamoud et al. The Journal of allergy and clinical immunology 2016 Feb
February 29th is Rare Disease Day: 4 Reasons You Should Care,
by Erica Barnes, Huffington Post Blog, February 26, 2016
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
van Rijt Willemijn J et al. Neonatology 2016 Feb 109(4) 297-302
Genotyping of Colorectal Cancer for Cancer Precision Medicine: Results from the IPH Center for Molecular Pathology.
Jesinghaus Moritz et al. Genes, chromosomes & cancer 2016 Feb
Implications of the Updated 2013 American Society of Clinical Oncology/College of American Pathologists Guideline Recommendations on Human Epidermal Growth Factor Receptor 2 Gene Testing Using Immunohistochemistry and Fluorescence In Situ Hybridization for Breast Cancer.
Lim Tse Hui et al. Archives of pathology & laboratory medicine 2016 Feb 140(2) 140-7
iPrevent(®): a tailored, web-based, decision support tool for breast cancer risk assessment and management.
Collins Ian M et al. Breast cancer research and treatment 2016 Feb
International survey of awareness of genetic risk in the clinical sarcoma community.
McBride Kate A et al. Asia-Pacific journal of clinical oncology 2016 Feb
Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?
Seymour Heather Jessica et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(3) 264-7
A cost analysis of a cancer genetic service model in the UK.
Slade Ingrid et al. Journal of community genetics 2016 Feb
What's in a name? A co-ordinated approach towards the correct use of a uniform nomenclature to improve patient reports and databases.
Tack Véronique et al. Human mutation 2016 Feb
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
van der Post Rachel S et al. Journal of medical genetics 2015 Jun 52(6) 361-74
Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: A survey of general practitioners in Johannesburg, South Africa.
Van Wyk Chantel et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(3) 268-71
Genomic Characterization of Primary Invasive Lobular Breast Cancer.
Desmedt Christine, et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 0 0. (16) 1872-81
Hereditary breast and gynecological tumors: italian legal issues.
DI Vella Giancarlo et al. Minerva ginecologica 2016 Feb
[French guidelines for the management of adult sickle cell disease: 2015 update].
Habibi A et al. La Revue de me´decine interne / fonde´e ... par la Socie´te´ nationale francaise de me´decine interne 2015 May 36(5 Suppl 1) 5S3-84
A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults.
Oram Richard A et al. Diabetes care 2016 Mar 39(3) 337-44
Quality of life utility values for hereditary haemochromatosis in Australia.
de Graaff Barbara et al. Health and quality of life outcomes 2016 14(1) 31
Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
Mori Takayasu et al. Clinical and experimental nephrology 2016 Feb
Pharmacogenomic Biomarkers: an FDA Perspective on Utilization in Biological Product Labeling.
Schuck Robert N et al. The AAPS journal 2016 Feb
Broad Consent for Genomic Research and Biobanking: Perspectives from Low- and Middle-Income Countries.
Tindana Paulina et al. Annual review of genomics and human genetics 2016 Feb
Genetic Epidemiology and Public Health: The Evolution From Theory to Technology.
Fallin M Daniele et al. American journal of epidemiology 2016 Feb
Using a Team-Based Learning Approach at National Meetings to Teach Residents Genomic Pathology.
Haspel Richard L et al. Journal of graduate medical education 2016 Feb 8(1) 80-4
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.
Deans Zandra et al. Human mutation 2016 Feb
Genomics in research and health care with Aboriginal and Torres Strait Islander peoples.
McWhirter Rebekah et al. Monash bioethics review 33(2-3) 203-9
Analyzing communication in genetic consultations--a systematic review.
Paul Jean et al. Patient education and counseling 2015 Jan 98(1) 15-33
Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.
Wiley Laura K et al. Journal of the American Medical Informatics Association : JAMIA 2016 Feb
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Xue Yuan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jun 17(6) 444-51
Patients get mixed reactions from docs over mail-ordered genetic tests,
by Andrew M. Seaman, Reuters, February 29, 2016
Heart, Lung, Blood and Sleep Diseases
The Impact of Clinical and Genetic Findings on The Management of Young Brugada Syndrome Patients.
Andorin Antoine et al. Heart rhythm : the official journal of the Heart Rhythm Society 2016 Feb
Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.
Madkaikar Manisha et al. Indian journal of pediatrics 2016 Feb
Examining perceptions of the usefulness and usability of a mobile-based system for pharmacogenomics clinical decision support: a mixed methods study.
Blagec Kathrin et al. PeerJ 2016 4e1671
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Leo Michael C et al. American journal of medical genetics. Part A 2016 Mar 170(3) 574-82
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Korngiebel Diane M et al. American journal of medical genetics. Part A 2016 Mar 170(3) 565-73
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa Koichiro et al. Journal of human genetics 2016 Feb
GeneGazer: A Toolkit Integrating Two Pipelines for Personalized Profiling and Biosignature Identification.
Luo Ji-Dung et al. Cancer genomics & proteomics 13(2) 141-150
Nurturing Nature-Exploring the Possible Role of Epigenetics in Dyslipidemia.
Sabatine Marc S, et al. JAMA cardiology 2016 0 0. (1) 36
Fight brews over promising genetic-sequencing technology,
by Erika Check Hayden, Nature News, February 25, 2016
New genetic switch clue to sustainable weight loss,
by Rebecca Bazeley, PHG Foundation, March 2, 2016
Whole-exome sequencing: A rational approach for 'diagnostic odyssey' patients,
Medical Xpress, March 1, 2016
Eight questions to ask before human genetic engineering goes mainstream,
by George Church, the Washington Post, February 25, 2016
Mothers high cholesterol linked to same problem in grown children,
by Lisa Rapaport, Reuters, March 3, 2016
Gene Therapy: The View from NCATS,
GEN, February 29, 2016
Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates.
Manrai Arjun K et al. JAMA 2016 Feb
What does the Mormon Church have to do with Bidens cancer moonshot?
By Dylan Scott, STAT, February 26, 2016
White House highlights Rare Disease Project at Precision Medicine Summit
EurekAlert, February 25, 2016
Rare disease patients share info on MyGene2 web tool to assist with gene discovery,
Medical Xpress, March 2, 2016
Progress in targeting tumour cells, avoiding healthy cells,
by Rebecca Bazeley, PHG Foundation, March 3, 2016
Deriving Drug Discovery Value from Large-Scale Genetic Bioresources: A Workshop
March 22 ~ Washington, DC