Precision diabetes: learning from monogenic diabetes

Por Hattersley, Andrew T., Patel, Kashyap A.
Publicado no Diabetologia (2017)

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

Por Ellard, Sian, Colclough, Kevin, Patel, Kashyap A., Hattersley, Andrew T.
Publicado no 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...

Por Patel, Kashyap A, Weedon, Michael N, Shields, Beverley M., Pearson, Ewan R, Hattersley, Andrew T., McDonald, Timothy J.
Publicado no 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...

Por Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.
Publicado no Diabetologia (2018)

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

Por Patel, Kashyap A., Knight, Bridget, Aziz, Aftab, Babiker, Tarig, Tamar, Avades, Findlay, Joanna, Cox, Sue, Dimitropoulos, Ioannis, Tysoe, Carolyn, Panicker, Vijay, Vaidya, Bijay
Publicado no Clin Endocrinol (Oxf) (2018)

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

Por Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Publicado no 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

Por Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Houghton, Jayne A. L., McDonald, Timothy J., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Publicado no Diabetologia (2018)

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

Por 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.
Publicado no 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

Por 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.
Publicado no Diabetes Care (2021)

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

Por 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
Publicado no J Clin Endocrinol Metab (2018)

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

Por 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.
Publicado no Diabetes (2019)

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

Por 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.
Publicado no Sci Rep (2020)

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

Por 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
Publicado no Diabetes (2018)

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

Por 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
Publicado no BMJ Open Diabetes Res Care (2019)

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

Por 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
Publicado no Diabetes (2021)

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

Por 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.
Publicado no Diabetologia (2020)

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

Por 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.
Publicado no Nat Commun (2017)

Prospective functional classification of all possible missense variants in PPARG

Por 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
Publicado no Nat Genet (2016)

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

Por 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.
Publicado no Nat Genet (2022)