Detalhe da pesquisa
1.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell
; 161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959774
2.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
3.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
4.
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clin Genet
; 105(2): 140-149, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904618
5.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
6.
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.
Curr Issues Mol Biol
; 45(1): 465-478, 2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36661516
7.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
8.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121912
9.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Am J Med Genet A
; 191(1): 100-107, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308343
10.
Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis.
Pediatr Dev Pathol
; 26(2): 138-143, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515364
11.
NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported.
Int J Mol Sci
; 24(10)2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239988
12.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
13.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155282
14.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
15.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
16.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Am J Med Genet A
; 188(9): 2819-2824, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779070
17.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
18.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
19.
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.
Int J Mol Sci
; 23(8)2022 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457050
20.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci
; 23(22)2022 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430143