Detalhe da pesquisa
1.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
N Engl J Med
; 390(12): 1092-1104, 2024 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507752
2.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 147(6): 2085-2097, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
3.
Single-cell-resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity.
Proc Natl Acad Sci U S A
; 119(19): e2117553119, 2022 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35522714
4.
GM1 gangliosidosis type II: Results of a 10-year prospective study.
Genet Med
; 26(7): 101144, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641994
5.
Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy.
Retina
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478753
6.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Ophthalmology
; 130(4): 423-432, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332842
7.
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Adv Exp Med Biol
; 1415: 289-295, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440047
8.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868845
9.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS Genet
; 15(5): e1008130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048900
10.
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Am J Hum Genet
; 103(6): 976-983, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449416
11.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007002
12.
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Am J Med Genet C Semin Med Genet
; 184(3): 618-630, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32866347
13.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Am J Med Genet C Semin Med Genet
; 184(3): 631-643, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770643
14.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949312
15.
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Am J Med Genet A
; 182(3): 493-497, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022389
16.
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.
Ophthalmology
; 126(2): 296-304, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339877
17.
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Am J Med Genet A
; 176(12): 2819-2823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30369044
18.
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Ophthalmology
; 127(12): 1772-1774, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32434002
19.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
medRxiv
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38313286
20.
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Br J Ophthalmol
; 107(10): 1554-1559, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760456