Detalhe da pesquisa
1.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827684
2.
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome.
Cell
; 178(6): 1421-1436.e24, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491386
3.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
4.
Regulation of RAF protein kinases in ERK signalling.
Nat Rev Mol Cell Biol
; 16(5): 281-98, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907612
5.
Recapitulating the human segmentation clock with pluripotent stem cells.
Nature
; 580(7801): 124-129, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32238941
6.
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Hum Mol Genet
; 32(13): 2251-2261, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043208
7.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462524
8.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Hum Mol Genet
; 32(17): 2681-2692, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364051
9.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet
; 32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440975
10.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Annu Rev Genomics Hum Genet
; 23: 301-329, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655331
11.
Telomeres and telomerase: three decades of progress.
Nat Rev Genet
; 20(5): 299-309, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760854
12.
The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
Nature
; 574(7777): 249-253, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578523
13.
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.
PLoS Genet
; 18(6): e1010278, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727845
14.
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
J Cell Physiol
; 239(4): e31189, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219074
15.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
16.
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
17.
Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome.
Hum Mol Genet
; 31(19): 3245-3265, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470378
18.
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
Hum Mol Genet
; 31(14): 2295-2306, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137054
19.
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Ann Hum Genet
; 88(1): 86-100, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921557
20.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302