Precision diabetes: learning from monogenic diabetes

ανά Hattersley, Andrew T., Patel, Kashyap A.
Τόπος έκδοσης Diabetologia (2017)

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

ανά Ellard, Sian, Colclough, Kevin, Patel, Kashyap A., Hattersley, Andrew T.
Τόπος έκδοσης J Clin Invest (2019)

Zinc Transporter 8 autoantibodies (ZnT8A) and a Type 1 diabetes-genetic risk score can exclude individuals with type 1 diabetes from inappropriate genetic testing for monogenic dia...

ανά Patel, Kashyap A, Weedon, Michael N, Shields, Beverley M., Pearson, Ewan R, Hattersley, Andrew T., McDonald, Timothy J.
Τόπος έκδοσης Diabetes Care (2019)

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metfor...

ανά Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.
Τόπος έκδοσης Diabetologia (2018)

Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy

ανά Patel, Kashyap A., Knight, Bridget, Aziz, Aftab, Babiker, Tarig, Tamar, Avades, Findlay, Joanna, Cox, Sue, Dimitropoulos, Ioannis, Tysoe, Carolyn, Panicker, Vijay, Vaidya, Bijay
Τόπος έκδοσης Clin Endocrinol (Oxf) (2018)

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

ανά Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Τόπος έκδοσης Can J Diabetes (2020)

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes

ανά Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Houghton, Jayne A. L., McDonald, Timothy J., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Τόπος έκδοσης Diabetologia (2018)

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

ανά Hewat, Thomas I., Yau, Daphne, Jerome, Joseph C. S., Laver, Thomas W., Houghton, Jayne A. L., Shields, Beverley M., Flanagan, Sarah E., Patel, Kashyap A.
Τόπος έκδοσης Eur J Endocrinol (2021)

Type 2 Diabetes and COVID-19–Related Mortality in the Critical Care Setting: A National Cohort Study in England, March–July 2020

ανά Dennis, John M., Mateen, Bilal A., Sonabend, Raphael, Thomas, Nicholas J., Patel, Kashyap A., Hattersley, Andrew T., Denaxas, Spiros, McGovern, Andrew P., Vollmer, Sebastian J.
Τόπος έκδοσης Diabetes Care (2021)

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

ανά Laver, Thomas W, Patel, Kashyap A, Colclough, Kevin, Curran, Jacqueline, Dale, Jane, Davis, Nikki, Savage, David B, Flanagan, Sarah E, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N
Τόπος έκδοσης J Clin Endocrinol Metab (2018)

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

ανά Johnson, Matthew B., De Franco, Elisa, Greeley, Siri Atma W., Letourneau, Lisa R., Gillespie, Kathleen M., Wakeling, Matthew N., Ellard, Sian, Flanagan, Sarah E., Patel, Kashyap A., Hattersley, Andrew T.
Τόπος έκδοσης Diabetes (2019)

Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India

ανά Harrison, James W., Tallapragada, Divya Sri Priyanka, Baptist, Alma, Sharp, Seth A., Bhaskar, Seema, Jog, Kalpana S., Patel, Kashyap A., Weedon, Michael N., Chandak, Giriraj R., Yajnik, Chittaranjan S., Oram, Richard A.
Τόπος έκδοσης Sci Rep (2020)

All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

ανά Hughes, Alice E., Hayes, M. Geoffrey, Egan, Aoife M., Patel, Kashyap A., Scholtens, Denise M., Lowe, Lynn P., Lowe Jr, William L., Dunne, Fidelma P., Hattersley, Andrew T., Freathy, Rachel M.
Τόπος έκδοσης Wellcome Open Res (2021)

The common HNF1A variant I27L is a modifier of age at diabetes diagnosis in HNF1A-MODY individuals

ανά Locke, Jonathan M, Saint-Martin, Cécile, Laver, Thomas W, Patel, Kashyap A, Wood, Andrew R, Sharp, Seth A, Ellard, Sian, Bellanné-Chantelot, Christine, Hattersley, Andrew T, Harries, Lorna W, Weedon, Michael N
Τόπος έκδοσης Diabetes (2018)

Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-K(ATP)-channel pathways

ανά Bowman, Pamela, McDonald, Timothy J, Knight, Bridget A, Flanagan, Sarah E, Leveridge, Maria, Spaull, Steve R, Shields, Beverley M, Hammersley, Suzanne, Shepherd, Maggie H, Andrews, Robert C, Patel, Kashyap A, Hattersley, Andrew T
Τόπος έκδοσης BMJ Open Diabetes Res Care (2019)

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

ανά Montaser, Hossam, Patel, Kashyap A., Balboa, Diego, Ibrahim, Hazem, Lithovius, Väinö, Näätänen, Anna, Chandra, Vikash, Demir, Korcan, Acar, Sezer, Ben-Omran, Tawfeg, Colclough, Kevin, Locke, Jonathan M., Wakeling, Matthew, Lindahl, Maria, Hattersley, Andrew T., Saarimäki-Vire, Jonna, Otonkoski, Timo
Τόπος έκδοσης Diabetes (2021)

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

ανά Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Hagopian, William, Killian, Michael, McDonald, Timothy J., Tree, Timothy I. M., Domingo-Vila, Clara, Hudson, Michelle, Hammersley, Suzanne, Dobbs, Rebecca, Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T., Oram, Richard A.
Τόπος έκδοσης Diabetologia (2020)

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

ανά Patel, Kashyap A., Kettunen, Jarno, Laakso, Markku, Stančáková, Alena, Laver, Thomas W., Colclough, Kevin, Johnson, Matthew B., Abramowicz, Marc, Groop, Leif, Miettinen, Päivi J., Shepherd, Maggie H., Flanagan, Sarah E., Ellard, Sian, Inagaki, Nobuya, Hattersley, Andrew T., Tuomi, Tiinamaija, Cnop, Miriam, Weedon, Michael N.
Τόπος έκδοσης Nat Commun (2017)

Prospective functional classification of all possible missense variants in PPARG

ανά Majithia, Amit R., Tsuda, Ben, Agostini, Maura, Gnanapradeepan, Keerthana, Rice, Robert, Peloso, Gina, Patel, Kashyap A., Zhang, Xiaolan, Broekema, Marjoleine F., Patterson, Nick, Duby, Marc, Sharpe, Ted, Kalkhoven, Eric, Rosen, Evan D., Barroso, Inês, Ellard, Sian, Kathiresan, Sekar, O’Rahilly, Stephen, Chatterjee, Krishna, Florez, Jose C., Mikkelsen, Tarjei, Savage, David B., Altshuler, David
Τόπος έκδοσης Nat Genet (2016)

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

ανά Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A.L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.
Τόπος έκδοσης Nat Genet (2022)