Detalhe da pesquisa
1.
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Int J Mol Sci
; 22(3)2021 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498813
2.
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
3.
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Hum Mol Genet
; 25(24): 5483-5489, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798102
4.
A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population.
Dig Dis Sci
; 63(11): 3049-3057, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178286
5.
Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.
Gastroenterology
; 151(4): 698-709, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27373512
6.
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.
Gastroenterology
; 151(4): 710-723.e2, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27377463
7.
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.
Nat Commun
; 14(1): 2256, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37080976
8.
Variability of retinopathy consequent upon novel mutations in LAMA1.
Ophthalmic Genet
; 43(5): 671-678, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616092
9.
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Invest Ophthalmol Vis Sci
; 63(9): 14, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947379
10.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Nat Commun
; 13(1): 6595, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329026
11.
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Genes (Basel)
; 12(4)2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33808351
12.
Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.
Gastroenterol Rep (Oxf)
; 9(6): 521-532, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34925849
13.
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Ophthalmic Genet
; 42(6): 664-673, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34223797
14.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Mol Ther Nucleic Acids
; 21: 412-427, 2020 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653833
15.
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Sci Transl Med
; 10(423)2018 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321258