Detalhe da pesquisa
1.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
2.
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.
Genome Res
; 29(7): 1144-1151, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235655
3.
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.
Brain
; 143(4): 1099-1105, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32168371
4.
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Genet Med
; 20(4): 403-410, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837158
5.
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Epilepsia
; 59(5): 1062-1071, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29655203
6.
Promotion of bone morphogenetic protein signaling by tetraspanins and glycosphingolipids.
PLoS Genet
; 11(5): e1005221, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25978409
7.
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Am J Med Genet A
; 170(6): 1573-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27028100
8.
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Am J Med Genet A
; 164A(9): 2391-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24924585
9.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865205
10.
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
JCI Insight
; 7(5)2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104249
11.
Phenotypic continuum of NFU1-related disorders.
Ann Clin Transl Neurol
; 9(12): 2025-2035, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256512
12.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
13.
TRPV channel-mediated calcium transients in nociceptor neurons are dispensable for avoidance behaviour.
Nat Commun
; 5: 4734, 2014 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25178952
14.
A case of progressive quadriceps weakness and elevated creatine kinase level mimicking inclusion body myositis.
Arthritis Care Res (Hoboken)
; 66(2): 328-33, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24022920
15.
An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGFbeta signaling during mesodermal patterning.
Development
; 133(15): 2887-96, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16790477