Results 11 to 20 of about 1,216,010 (297)

Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]

, 2017
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull, A Schwartz, AO Berg, CA Bellcross, CA Bellcross, CE Franz, CS Skinner, D Kegelaers, DK Sokol, EJ Houwink, EJ Houwink, Erik Lehman, Frank C. Day, FS Collins, Haley McDermott, HJ Baer, J Mancini, JC Carroll, KF Trivers, M Paneque, M Srinivasan, MD Schwartz, Michael J. Green, Michael S. Wilkes, MJ Green, MJ Novak, ML Rinke, NA Mikat-Stevens, PO Ozuah, R Grol, RA Bell, RM Epstein, RM Hoffman, Robert A. Bell, S Appleton, T Pal, TJ Leonarczyk, Tonya L. Fancher, V Rahimzadeh, VA Moyer, W Burke, W Burke, YR Cukier   +42 more
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A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
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Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +16 more sources

Federated generalized linear mixed models for collaborative genome-wide association studies

iScience, 2023
Summary: Federated association testing is a powerful approach to conduct large-scale association studies where sites share intermediate statistics through a central server. There are, however, several standing challenges.
Wentao Li, Han Chen, Xiaoqian Jiang, Arif Harmanci   +3 more
doaj   +1 more source

Bringing genetics into primary care: findings from a national evaluation of pilots in England [PDF]

, 2009
Objectives: Developments in genetic knowledge and clinical applications are seen as rendering traditional modes of organizing genetics provision increasingly inappropriate.
Checkland K, Currie G, Eisenhardt KM, Graeme Currie, Graham Martin, Martin GP, Paton C, Rachael Finn, Secretary of State for Health.   +8 more
core   +1 more source

Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency

iScience, 2022
Summary: Premature atrial contractions (PACs) are frequently observed on electrocardiograms and are associated with increased risks of atrial fibrillation (AF), stroke, and mortality.
Sébastien Thériault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen   +19 more
doaj   +1 more source

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +1 more source

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen, Crockett, Cameron D, Gonzalez, Michael A, Grider, Tiffany, Jerath, Nivedita U, Moore, Steven A, Shy, Michael E, Swenson, Andrea, Weihl, Conrad C, Zuchner, Stephan   +9 more
core   +8 more sources

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service [PDF]

, 2015
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic ...
A Norris, A Trepanier, Astrid Weber, ATM Dierick-van Daele, B Zellerino, C Barnes, C Cordier, Caroline Benjamin, Catherine Houghton, Chris Edgar, CL Bennett, Claire Foo, D Evans, DH Peters, E McCann, G Martin, G Richardson, Gail Mannion, H Burton, H Skirton, H Skirton, Heather Skirton, Ian Ellis, Jan Birch, JGR Kromberg, JGR Kromberg, L Goldsmith, M Kirk, M McAllister, M McAllister, MD Schwartz, P Craig, R Iredale, RN Battista, S Cohen, SA Cohen, T Rigter, Türem Delikurt, V Hannig   +38 more
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