Detalhe da pesquisa
1.
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
2.
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
3.
Phenotype-based targeted treatment of SGLT2 inhibitors and GLP-1 receptor agonists in type 2 diabetes.
Diabetologia
; 67(5): 822-836, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388753
4.
Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight.
Hum Mol Genet
; 31(11): 1762-1775, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897462
5.
Integrating multiple lines of evidence to assess the effects of maternal BMI on pregnancy and perinatal outcomes.
BMC Med
; 22(1): 32, 2024 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281920
6.
Recurrent 17q12 microduplications contribute to renal disease but not diabetes.
J Med Genet
; 60(5): 491-497, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109160
7.
The impact of population-level HbA1c screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis.
Diabetologia
; 66(2): 300-309, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411396
8.
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
Diabetologia
; 66(11): 1997-2006, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37653058
9.
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
10.
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
J Clin Immunol
; 43(3): 662-669, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600150
11.
Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies.
PLoS Genet
; 16(12): e1009191, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33284794
12.
Comparison of causal forest and regression-based approaches to evaluate treatment effect heterogeneity: an application for type 2 diabetes precision medicine.
BMC Med Inform Decis Mak
; 23(1): 110, 2023 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37328784
13.
Understanding the pathogenesis of lean non-autoimmune diabetes in an African population with newly diagnosed diabetes.
Diabetologia
; 65(4): 675-683, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138411
14.
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
15.
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
16.
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Am J Hum Genet
; 104(2): 275-286, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665703
17.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet
; 104(5): 985-989, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006513
18.
Variants influencing age at diagnosis of HNF1A-MODY.
Mol Med
; 28(1): 113, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104811
19.
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly.
Clin Genet
; 102(5): 457-458, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35856135
20.
Patient-led rapid titration of basal insulin in gestational diabetes is associated with improved glycaemic control and lower birthweight.
Diabet Med
; 39(10): e14926, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900879