Detalhe da pesquisa
1.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
2.
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
3.
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
4.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(9): 2159-2164, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
5.
Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(5): 1074-1082, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924
6.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
7.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
8.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
9.
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Nat Med
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38745008
10.
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Nat Genet
; 55(8): 1400-1412, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37500730
11.
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Nat Genet
; 55(9): 1598-1607, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37550531
12.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047860
13.
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
Genes (Basel)
; 12(8)2021 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440449