Detalhe da pesquisa
1.
GM1 gangliosidosis type II: Results of a 10-year prospective study.
Genet Med
; 26(7): 101144, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38641994
2.
Clinical, Biomarker, and Research Tests Among US Government Personnel and Their Family Members Involved in Anomalous Health Incidents.
JAMA
; 331(13): 1109-1121, 2024 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38497797
3.
Neuroimaging Findings in US Government Personnel and Their Family Members Involved in Anomalous Health Incidents.
JAMA
; 331(13): 1122-1134, 2024 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38497822
4.
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Hum Genet
; 142(10): 1499-1517, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37668839
5.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
; 103(6): 699-703, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36807241
6.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat
; 43(5): 613-624, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35266249
7.
Genetic hearing loss: the audiologist's perspective.
Hum Genet
; 141(3-4): 311-314, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34480642
8.
The audiogram: Detection of pure-tone stimuli in ototoxicity monitoring and assessments of investigational medicines for the inner ear.
J Acoust Soc Am
; 152(1): 470, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35931504
9.
Outcomes in Previously Healthy Cryptococcal Meningoencephalitis Patients Treated With Pulse Taper Corticosteroids for Post-infectious Inflammatory Syndrome.
Clin Infect Dis
; 73(9): e2789-e2798, 2021 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33383587
10.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34652576
11.
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Clin Genet
; 99(2): 226-235, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33089500
12.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 185(4): 1131-1141, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33529473
13.
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Am J Med Genet A
; 185(12): 3717-3727, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34331386
14.
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
BMC Neurol
; 21(1): 393, 2021 Oct 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34627174
15.
Stability of Early Auditory Evoked Potential Components Over Extended Test-Retest Intervals in Young Adults.
Ear Hear
; 41(6): 1461-1469, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33136623
16.
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Proc Natl Acad Sci U S A
; 114(37): E7766-E7775, 2017 09 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28847925
17.
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
Inglês
| MEDLINE | ID: mdl-30461122
18.
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
BMC Med Genet
; 20(1): 118, 2019 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31266487
19.
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Am J Hum Genet
; 97(5): 715-25, 2015 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26544806
20.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Am J Hum Genet
; 96(6): 913-25, 2015 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26046366