檢索結果 - T Samocha
- Showing 1 - 18 results of 18
-
1
-
2
-
3
-
4
-
5
-
6
-
7
Segregation of a latent high adiposity phenotype in families with a history of type 2 diabetes mellitus implicates rare obesity-susceptibility genetic variants with large effects i... 由 Arthur B Jenkins, Marijka Batterham, Dorit Samocha-Bonet, Katherine Tonks, Jerry R Greenfield, Lesley V Campbell
發表在 PLoS ONE (2013-01-01)獲取全文
Article -
8
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery 由 Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, the SHaRe Investigators, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S. Ware
發表在 Genome Medicine (2024-07-01)獲取全文
Article -
9
-
10
Metabolomics and Lipidomics Signatures of Insulin Resistance and Abdominal Fat Depots in People Living with Obesity 由 Yen Chin Koay, Adelle C. F. Coster, Daniel L. Chen, Brad Milner, Amani Batarseh, John F. O’Sullivan, Jerry R. Greenfield, Dorit Samocha-Bonet
發表在 Metabolites (2022-12-01)獲取全文
Article -
11
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders 由 Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
發表在 Scientific Reports (2024-04-01)獲取全文
Article -
12
Glycemic effects and safety of L-Glutamine supplementation with or without sitagliptin in type 2 diabetes patients-a randomized study. 由 Dorit Samocha-Bonet, Donald J Chisholm, Fiona M Gribble, Adelle C F Coster, Kevin H Carpenter, Graham R D Jones, Jens J Holst, Jerry R Greenfield
發表在 PLoS ONE (2014-01-01)獲取全文
Article -
13
Rationale and design of a randomised controlled trial testing the effect of personalised diet in individuals with pre-diabetes or type 2 diabetes mellitus treated with metformin 由 Tien-Ming Hng, Jennifer R Snaith, Thaw D Htet, Anastasia Godneva, Zhixin Liu, Eliza Chalmers, Dmitry Kolobkov, Renee Richens, Krisztina Toth, Mark Danta, Eran Elinav, Eran Segal, Jerry R Greenfield, Dorit Samocha-Bonet
發表在 BMJ Open (2020-10-01)獲取全文
Article -
14
P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis 由 Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio, Cas Simons, Lynn Pais, Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier, Anne O'Donnell-Luria, Daniel MacArthur, Zornitza Stark, Heidi Rehm, Kaitlin Samocha
發表在 Genetics in Medicine Open (2025-01-01)獲取全文
Article -
15
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) 由 Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski
發表在 Genetics in Medicine Open (2024-01-01)獲取全文
Article -
16
O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function 由 Heidi Rehm, Julia Goodrich, Katherine Chao, Kristen Laricchia, Michael Wilson, Jack Fu, Grace Tiao, Qin He, Daniel Marten, Timothy Poterba, Christopher Vittal, Siwei Chen, Wenhan Lu, Samantha Baxter, Sinéad Chapman, Caroline Cusick, Philip Darnowsky, Laura Gauthier, Leonhard Gruenschloss, Riley Grant, Stephen Jahl, Matthew Solomonson, Christine Stevens, Daniel MacArthur, Michael Talkowski, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Konrad Karczewski, Mark Daly
發表在 Genetics in Medicine Open (2024-01-01)獲取全文
Article -
17
Yap regulates skeletal muscle fatty acid oxidation and adiposity in metabolic disease 由 K. I. Watt, D. C. Henstridge, M. Ziemann, C. B. Sim, M. K. Montgomery, D. Samocha-Bonet, B. L. Parker, G. T. Dodd, S. T. Bond, T. M. Salmi, R. S. Lee, R. E. Thomson, A. Hagg, J. R. Davey, H. Qian, R. Koopman, A. El-Osta, J. R. Greenfield, M. J. Watt, M. A. Febbraio, B. G. Drew, A. G. Cox, E. R. Porrello, K. F. Harvey, P. Gregorevic
發表在 Nature Communications (2021-05-01)獲取全文
Article -
18
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders 由 Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
發表在 Genome Medicine (2020-03-01)獲取全文
Article
