Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
2.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
3.
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
N Engl J Med
; 389(7): 620-631, 2023 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585628
4.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
5.
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
J Lipid Res
; 65(3): 100517, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342436
6.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
7.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Am J Hum Genet
; 108(1): 100-114, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352116
8.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
9.
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Am J Med Genet A
; 194(5): e63517, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149346
10.
Gene therapies for mucopolysaccharidoses.
J Inherit Metab Dis
; 47(1): 135-144, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204267
11.
Liver-directed gene therapy for inherited metabolic diseases.
J Inherit Metab Dis
; 47(1): 9-21, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171926
12.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
13.
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
Mol Ther
; 31(9): 2651-2661, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37394797
14.
Up-regulation of miR-34b/c by JNK and FOXO3 protects from liver fibrosis.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33649241
15.
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock.
EMBO J
; 38(12)2019 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31126958
16.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genet Med
; 25(8): 100871, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120726
17.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
18.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
J Inherit Metab Dis
; 46(2): 335-347, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433920
19.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
20.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
; 190(1): 102-108, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488810