Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37541188
2.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
Inglês
| MEDLINE | ID: mdl-34508595
3.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33186545
4.
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Hum Genet
; 141(3-4): 387-400, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34811589
5.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
; 188(9): 2783-2789, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35616428
6.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30245030
7.
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Bioinformatics
; 35(22): 4754-4756, 2019 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31134279
8.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Genet Med
; 22(5): 945-953, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32066871
9.
Hawaiian monk seals exhibit behavioral flexibility when targeting prey of different size and shape.
J Exp Biol
; 222(Pt 5)2019 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30679244
10.
Swimming and diving energetics in dolphins: a stroke-by-stroke analysis for predicting the cost of flight responses in wild odontocetes.
J Exp Biol
; 220(Pt 6): 1135-1145, 2017 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28298467
11.
Arboretum: reconstruction and analysis of the evolutionary history of condition-specific transcriptional modules.
Genome Res
; 23(6): 1039-50, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23640720
12.
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals.
Nature
; 458(7235): 223-7, 2009 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-19182780
13.
Gene duplication and the evolution of ribosomal protein gene regulation in yeast.
Proc Natl Acad Sci U S A
; 107(12): 5505-10, 2010 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-20212107
14.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37471090
15.
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
JAMA Neurol
; 79(4): 405-413, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35254387
16.
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
HGG Adv
; 3(3): 100113, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35586607
17.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35484142
18.
Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.
Sci Adv
; 7(51): eabi7629, 2021 Dec 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34910522
19.
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
Sci Rep
; 11(1): 2515, 2021 01 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33510257
20.
Risk Factors Associated with a Second Primary Lung Cancer in Patients with an Initial Primary Lung Cancer.
Clin Lung Cancer
; 22(6): e842-e850, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34053862