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
em Inglês
| MEDLINE | ID: mdl-35120629
2.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Hum Genet
; 143(5): 721-734, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691166
3.
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
em Inglês
| MEDLINE | ID: mdl-36524988
4.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Hum Genet
; 141(11): 1723-1738, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226187
5.
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Hum Mutat
; 42(12): 1521-1547, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34411390
6.
Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.
Ophthalmology
; 128(11): 1604-1617, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717343
7.
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
Hum Mol Genet
; 27(4): 614-624, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29272404
8.
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Hum Mutat
; 39(2): 177-186, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159838
9.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
10.
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
J Med Genet
; 54(9): 624-632, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28442542
11.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Hum Mol Genet
; 24(13): 3742-51, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25859010
12.
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Ophthalmology
; 124(7): 992-1003, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412069
13.
Validation of the multiplex ligation-dependent probe amplification assay and its application on the distribution study of the major alleles of 17 blood group systems in Chinese donors from Guangzhou.
Transfusion
; 57(2): 423-432, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27891625
14.
Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women.
Br J Haematol
; 173(3): 469-79, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018217
15.
Identification of a novel frequent RHCE*ce308T variant allele in Chinese D- individuals, resulting in a C+c- phenotype.
Transfusion
; 56(9): 2314-21, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338008
16.
Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population.
Transfusion
; 55(2): 413-21, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25156717
17.
Impact of genetic variation in the SMIM1 gene on Vel expression levels.
Transfusion
; 55(6 Pt 2): 1457-66, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25647324
18.
Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.
Transfusion
; 54(7): 1836-46, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24456066
19.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778080
20.
Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA.
Transfusion
; 53(11 Suppl 2): 3000-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23902153