Detalhe da pesquisa
1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37207645
2.
Ocular Biomarkers of Riboflavin Transporter Deficiency.
J Neuroophthalmol
; 43(1): 110-115, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35921603
3.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33811546
4.
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Am J Med Genet A
; 182(12): 2926-2938, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33043588
5.
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Am J Med Genet A
; 176(9): 1890-1896, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30152016
6.
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genet Med
; 19(6): 643-651, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27735924
7.
The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
Mol Vis
; 23: 695-706, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29062221
8.
A human case of SLC35A3-related skeletal dysplasia.
Am J Med Genet A
; 173(10): 2758-2762, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28777481
9.
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
Am J Med Genet A
; 170(10): 2523-30, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27480936
10.
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.
Mol Syndromol
; 14(4): 303-309, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37589028
11.
RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.
Ophthalmic Genet
; 43(4): 555-560, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35484846
12.
NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.
Retin Cases Brief Rep
; 16(3): 385-392, 2022 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32150116
13.
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.
Ophthalmic Genet
; 43(6): 824-833, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36469661
14.
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.
JAMA Ophthalmol
; 140(9): 889-893, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35951321
15.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
; 24(3): 274-286, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35065284
16.
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Mol Genet Genomic Med
; 9(2): e1574, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33443819
17.
A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy.
Clin Ophthalmol
; 15: 939-952, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33688162
18.
ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY.
Retin Cases Brief Rep
; 15(6): 694-701, 2021 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31306293
19.
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
Brain Sci
; 11(7)2021 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34356165
20.
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Brain Commun
; 3(3): fcab162, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34466801