Detalhe da pesquisa
1.
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.
Cell
; 174(3): 536-548.e21, 2018 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961578
2.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
3.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
4.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
5.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Hum Mol Genet
; 27(5): 780-798, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293958
6.
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Hum Mutat
; 40(2): 162-176, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30461122
7.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520571
8.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303587
9.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Am J Hum Genet
; 98(2): 331-8, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805784
10.
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Am J Hum Genet
; 94(1): 144-52, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387994
11.
Genetic causes of moderate to severe hearing loss point to modifiers.
Clin Genet
; 91(4): 589-598, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27573290
12.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Hum Mutat
; 37(10): 991-1003, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375115
13.
Recessive mutations of TMC1 associated with moderate to severe hearing loss.
Neurogenetics
; 17(2): 115-123, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26879195
14.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541340
15.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Circ Genom Precis Med
; 16(5): 415-420, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37417234
16.
Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
Kidney Int Rep
; 8(8): 1638-1647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547535
17.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993157
18.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838
19.
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
Hum Genet
; 130(6): 759-65, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21660509
20.
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.
Eur J Hum Genet
; 28(5): 674-678, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804630