Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Authors: Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan

Source: Genome Medicine, Vol 17, Iss 1, Pp 1-11 (2025)

Subject Terms: Congenital hyperinsulinism, Non-coding, Hexokinase 1, Monogenic disease, Variable penetrance, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/48cbef84794840149430aa66e13db424

Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

Authors: Gareth Hawkes, Robin N. Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M. Albert, Donna K. Arnett, Allison E. Ashley-Koch, Aneel A. Ashrani, Kathleen C. Barnes, Eric Boerwinkle, Jennifer A. Brody, April P. Carson, Nathalie Chami, Yii-Der Ida Chen, Mina K. Chung, Joanne E. Curran, Dawood Darbar, Patrick T. Ellinor, Myrian Fornage, Victor R. Gordeuk, Xiuqing Guo, Jiang He, Chii-Min Hwu, Rita R. Kalyani, Robert Kaplan, Sharon L. R. Kardia, Charles Kooperberg, Ruth J. F. Loos, Steven A. Lubitz, Ryan L. Minster, Take Naseri, Satupa’itea Viali, Braxton D. Mitchell, Joanne M. Murabito, Nicholette D. Palmer, Bruce M. Psaty, Susan Redline, M. Benjamin Shoemaker, Edwin K. Silverman, Marilyn J. Telen, Scott T. Weiss, Lisa R. Yanek, Hufeng Zhou, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Ching-Ti Liu, Kari E. North, Anne E. Justice, Jonathan M. Locke, Nick Owens, Anna Murray, Kashyap Patel, Timothy M. Frayling, Caroline F. Wright, Andrew R. Wood, Xihong Lin, Alisa Manning, Michael N. Weedon

Source: Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/b2e3a91ecb614324b7f2fdd7370d5155

Accurate and cost-effective generation of a genetic risk score direct from blood lysates

Authors: Jonathan M. Locke, Benjamin Spurrier, Thomas W. Laver, Jayne A.L. Houghton, Kevin Colclough, Michael N. Weedon, Richard A. Oram

Source: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-3 (2024)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/ac7dc0679e094589b948c8158943f96a

Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records

Authors: Katherine S. Ruth, Robin N. Beaumont, Jonathan M. Locke, Jessica Tyrrell, Carolyn J. Crandall, Gareth Hawkes, Timothy M. Frayling, Julia K. Prague, Kashyap A. Patel, Andrew R. Wood, Michael N. Weedon, Anna Murray

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)

Subject Terms: Vasomotor symptoms, Menopause, Hormone replacement therapy, Genome-wide analyses, Genome-wide association study, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/145ca60b899e4205aab6ed58c64c7ff5