Detalhe da pesquisa
1.
Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Cell
; 184(7): 1651, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798434
2.
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Hum Mol Genet
; 33(5): 465-474, 2024 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37988592
3.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Am J Hum Genet
; 109(11): 2018-2028, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36257325
4.
Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young.
BMC Med Res Methodol
; 24(1): 128, 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38834992
5.
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes.
Diabetologia
; 66(2): 310-320, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36355183
6.
SavvyCNV: Genome-wide CNV calling from off-target reads.
PLoS Comput Biol
; 18(3): e1009940, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294448
7.
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Diabetologia
; 65(7): 1179-1184, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501400
8.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Diabetologia
; 65(2): 336-342, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686905
9.
DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life.
Diabetologia
; 64(10): 2258-2265, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272580
10.
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Diabetologia
; 63(12): 2605-2615, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029656
11.
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
Clin Endocrinol (Oxf)
; 90(2): 328-333, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372544
12.
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Diabetologia
; 61(12): 2520-2527, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30229274
13.
A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.
Diabetologia
; 61(4): 862-869, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29417186
14.
Precision diabetes: learning from monogenic diabetes.
Diabetologia
; 60(5): 769-777, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28314945
15.
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Diabetologia
; 65(1): 246-249, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618178
16.
Correction to: DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life.
Diabetologia
; 65(1): 258, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34698873
17.
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
medRxiv
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633783
18.
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
J Clin Res Pediatr Endocrinol
; 15(1): 90-96, 2023 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541035
19.
Systematic review of genotype-stratified treatment for monogenic insulin resistance.
medRxiv
; 2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205502
20.
Genotype-stratified treatment for monogenic insulin resistance: a systematic review.
Commun Med (Lond)
; 3(1): 134, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794082