P565: Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers

Autor: Karyn Roberts, Eileen Chaves, Adolfo Ariza, Vidhu Thaker, Chi Cho, Helen Binns

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101464- (2024)

Externí odkaz: https://doaj.org/article/b19ac215ad194481b3245057f7742260

Corrigendum to 'Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity' [Stem Cell Res 54 (2021) 102432]

Autor: Grazia Iannello, Achchhe Patel, Dario Sirabella, Barbara Corneo, Vidhu Thaker

Publikováno v: Stem Cell Research, Vol 61, Iss , Pp 102778- (2022)

Externí odkaz: https://doaj.org/article/1d3cb6ca2f7a45a9afc2b166ce67fb3f

Efficient Cas9-based Genome Editing Using CRISPR Analysis Webtools in Severe Early-onset-obesity Patient-derived iPSCs

Autor: Achchhe Patel, Grazia Iannello, Alejandro Garcia Diaz, Dario Sirabella, Vidhu Thaker, Barbara Corneo

Publikováno v: Current protocols. 2(8)

The CRISPR system is an adaptive defense mechanism used by bacteria and archaea against viruses and plasmids. The discovery of the CRISPR-associated protein Cas9 and its RNA-guided cleavage mechanism marked the beginning of a new era in genomic engin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5173fd71cc5ee91da4e3923f34c361d2
https://pubmed.ncbi.nlm.nih.gov/35950852

LBSUN161 Relationship Of Shape Of Glucose OGTT Curves With Measures Of Cardiometabolic Health In African American Adolescents

Autor: Vidhu Thaker, Samuel Gidding, Scott Keith, Bonita Falkner

Publikováno v: Journal of the Endocrine Society. 6:A282-A282

Background and Aims Studies in youth and adults have shown that the shape of oral glucose tolerance test (OGTT) response curve may be a biomarker for insulin secretion and insulin sensitivity (IS). Individuals with monophasic (MPh) glucose response c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dd9b700171e4f8c0f2a77d744027f0ff
https://doi.org/10.1210/jendso/bvac150.581

Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Autor: Kenneth D. Mandl, Tracy Glauser, Ian D. Krantz, Paul Avillach, Anna Bartels, Alan H. Beggs, Sawona Biswas, Florence T. Bourgeois, Jeremy Corsmo, Andrew Dauber, Batsal Devkota, Gary R. Fleisher, Allison P. Heath, Ingo Helbig, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Susan Kornetsky, Joseph A. Majzoub, Keith Marsolo, Lisa J. Martin, Jeremy Nix, Amy Schwarzhoff, Jason Stedman, Arnold Strauss, Kristen L. Sund, Deanne M. Taylor, Peter S. White, Eric Marsh, Adda Grimberg, Colin Hawkes, Darlene Barkman, Erin M. Borglund, Ramkrishna Chakrabarty, Alka Chandel, Anil Kumar Degala, Thomas DeSain, Philip Dexheimer, Parth Divekar, Alyssa Ellis, Mike Furgason, Christopher Geehan, Andrew Joseph Guidetti, Alba Gutierrez, Barbara Hallinan, Becca Harper, Niloofar Jalali, Jaspreet Khanna, Christopher Kirby, Gabor Korodi, Michal Kouril, Amy Kratchman, Ranjay Kumar, Guillaume Labilloy, In-Hee Lee, Bria Morgan, James Morgan, Louis J Muglia, Aleksandr Nikitin, Mike Pistone, Anna Poduri, Andrew Rupert, Kristen Safier, Piotr Sliz, Gelvina Stevenson, Joseph St. Geme, Vidhu Thaker, Simone Temporal, Prakash Velayutham, Julie Wijesooriya, Bryan Wolf, Andrew Wooten, Alan Yen, Yu Zhang

Publikováno v: Genetics in Medicine

Clinicians and researchers must contextualize a patient's genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for sharing biosamples and associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617a6b179ff0f7046943ca4b8c1baaf9
https://doi.org/10.1038/s41436-019-0711-y