Detalhe da pesquisa
1.
A framework for individualized splice-switching oligonucleotide therapy.
Nature
; 619(7971): 828-836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438524
2.
Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.
Am J Hum Genet
; 110(11): 1976-1982, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802069
3.
"It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs.
Genet Med
; : 101177, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38855852
4.
Data sharing to advance gene-targeted therapies in rare diseases.
Am J Med Genet C Semin Med Genet
; 193(1): 87-98, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36594517
5.
Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Am J Med Genet C Semin Med Genet
; 193(1): 19-29, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453229
6.
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Am J Med Genet C Semin Med Genet
; 193(1): 30-43, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738469
7.
Are we prepared to deliver gene-targeted therapies for rare diseases?
Am J Med Genet C Semin Med Genet
; 193(1): 7-12, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691939
8.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Am J Hum Genet
; 104(1): 76-93, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609409
9.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(2): 413-424, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327508
10.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597037
11.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(11): 2029-2037, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211152
12.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Genet Med
; 23(7): 1372-1375, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772220
13.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28630177
14.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31780822
15.
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
Am J Med Genet A
; 182(4): 780-784, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022391
16.
Rare variant association test in family-based sequencing studies.
Brief Bioinform
; 18(6): 954-961, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27677958
17.
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genet Med
; 21(3): 622-630, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209271
18.
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Hum Mutat
; 39(1): 23-39, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068161
19.
The BabySeq project: implementing genomic sequencing in newborns.
BMC Pediatr
; 18(1): 225, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986673
20.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(3): 672-674, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491411