Detalhe da pesquisa
1.
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
Am J Hum Genet
; 110(3): 427-441, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787739
2.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
; 140(1): 74-87, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20074521
3.
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
4.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512351
5.
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.
Hum Mol Genet
; 31(20): 3566-3579, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234888
6.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
7.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
8.
Circulating metabolites modulated by diet are associated with depression.
Mol Psychiatry
; 28(9): 3874-3887, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495887
9.
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
10.
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
; 106(2): 246-255, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004447
11.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
12.
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
13.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Brain
; 145(2): 644-654, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590685
14.
Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity.
Nature
; 541(7635): 81-86, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002404
15.
MicroRNA-21-Dependent Macrophage-to-Fibroblast Signaling Determines the Cardiac Response to Pressure Overload.
Circulation
; 143(15): 1513-1525, 2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550817
16.
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Circulation
; 144(17): 1409-1428, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694888
17.
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
18.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Brain
; 144(2): 411-419, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313762
19.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Brain
; 144(2): 574-583, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459760
20.
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
Eur J Public Health
; 32(3): 422-428, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165720