Detalhe da pesquisa
1.
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Hum Mol Genet
; 31(14): 2386-2395, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179199
2.
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Neuropediatrics
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38547905
3.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
4.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
5.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189577
6.
Interplay of cell-cell contacts and RhoA/MRTF-A signaling regulates cardiomyocyte identity.
EMBO J
; 37(12)2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764980
7.
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Epilepsia
; 63(4): e35-e41, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35152403
8.
Disseminating legislative debates: How legislators communicate the parliamentary agenda.
Party Politics
; 28(2): 365-376, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281722
9.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
10.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
11.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clin Genet
; 100(1): 14-28, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619735
12.
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
J Med Genet
; 57(9): 624-633, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32086284
13.
Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.
Am J Physiol Endocrinol Metab
; 316(5): E866-E879, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620635
14.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Am J Hum Genet
; 98(2): 358-62, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805782
15.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545679
16.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
17.
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Clin Genet
; 95(5): 582-589, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868567
18.
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
J Inherit Metab Dis
; 42(5): 909-917, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059585
19.
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Nature
; 504(7480): 432-6, 2013 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24213632
20.
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Am J Hum Genet
; 96(5): 826-31, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913036