Detalhe da pesquisa
1.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet
; 109(11): 2068-2079, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283405
2.
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
Diabetologia
; 67(1): 113-123, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897565
3.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459438
4.
SavvyCNV: Genome-wide CNV calling from off-target reads.
PLoS Comput Biol
; 18(3): e1009940, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294448
5.
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
6.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain
; 144(12): 3597-3610, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415310
7.
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Clin Endocrinol (Oxf)
; 89(5): 621-627, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238501
8.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605124
9.
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
J Exp Med
; 221(6)2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634869
10.
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.
EMBO Mol Med
; 15(3): e16491, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36704923
11.
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.
Diabetes
; 72(11): 1729-1734, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639628
12.
Primate-specific ZNF808 is essential for pancreatic development in humans.
Nat Genet
; 55(12): 2075-2081, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973953
13.
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
Diabetes
; 71(5): 1128-1136, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108381
14.
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Nat Genet
; 54(11): 1615-1620, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333503
15.
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
Diabetes
; 69(3): 477-483, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31882561
16.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
J Clin Invest
; 130(12): 6338-6353, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33164986
17.
Misannotation of multiple-nucleotide variants risks misdiagnosis.
Wellcome Open Res
; 4: 145, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31976378
18.
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
Diabetes
; 68(7): 1528-1535, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962220
19.
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.
Wellcome Open Res
; 4: 149, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32832699