Detalhe da pesquisa
1.
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Am J Hum Genet
; 109(3): 498-507, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35120629
2.
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.
Curr Issues Mol Biol
; 46(3): 2566-2575, 2024 Mar 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38534779
3.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; : 101106, 2024 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38420906
4.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33022222
5.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36524988
6.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Mol Vis
; 29: 1-12, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37287645
7.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33910932
8.
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hum Mutat
; 43(12): 2234-2250, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36259723
9.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 465-484, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34410491
10.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Hum Genet
; 141(11): 1723-1738, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35226187
11.
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Genet Med
; 24(7): 1523-1535, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35486108
12.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32817297
13.
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Int J Mol Sci
; 23(21)2022 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36362125
14.
Benchmarking deep learning splice prediction tools using functional splice assays.
Hum Mutat
; 42(7): 799-810, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33942434
15.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
J Med Genet
; 2020 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32631815
16.
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
Int J Mol Sci
; 22(6)2021 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33799353
17.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34203967
18.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28823706
19.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28965847
20.
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Hum Mutat
; 40(12): 2365-2376, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31397521