Detalhe da pesquisa
1.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Brain;
146(11): 4766-4783, 2023 11 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37437211
2.
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
3.
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Clin Genet;
102(4): 350-351, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35791803
4.
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
J Med Genet;
57(1): 23-30, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31494578
5.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Hum Mutat;
41(5): 1042-1050, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32097528
6.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet;
100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28343630
7.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J;
225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32480058
8.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet;
26(24): 4849-4860, 2017 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29036646
9.
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
10.
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
11.
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Muscle Nerve;
59(3): 357-362, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30412272
12.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Am J Hum Genet;
97(3): 493-500, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26340335
13.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Genet Med;
20(11): 1374-1386, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29517769
14.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A;
167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25604898
15.
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.
JACC Heart Fail;
12(1): 134-147, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37565978
16.
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Hum Mutat;
34(1): 255-65, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22949387
17.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet;
66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36414205
18.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
medRxiv;
2023 Jun 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37398376
19.
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
Circ Genom Precis Med;
15(5): e002981, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36178741
20.
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.
PLoS One;
16(8): e0255402, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34379666