Detalhe da pesquisa
1.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272031
2.
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
em Inglês
| MEDLINE | ID: mdl-35120629
3.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243009
4.
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Mol Ther
; 32(3): 837-851, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243599
5.
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clin Genet
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468396
6.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
7.
HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.
Clin Genet
; 103(6): 709-713, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896710
8.
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.
Proc Natl Acad Sci U S A
; 117(16): 9001-9012, 2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32265282
9.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
10.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
J Clin Immunol
; 42(5): 962-974, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320431
11.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology
; 129(2): 191-202, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34624300
12.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
13.
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).
Mol Vis
; 27: 518-527, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526759
14.
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
J Med Genet
; 57(9): 581-589, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303604
15.
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Retina
; 41(6): 1346-1355, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001834
16.
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Retina
; 41(1): 213-223, 2021 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32301896
17.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
18.
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
Br J Haematol
; 188(5): 768-773, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31710708
19.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307445
20.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721179