Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet
; 15(5): e1008190, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145742
3.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet
; 14(5): e1007329, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29795570
4.
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
Int J Mol Sci
; 22(4)2021 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33671840
5.
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
6.
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
7.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Ophthalmology
; 127(10): 1384-1394, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32423767
8.
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
9.
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
10.
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
11.
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
12.
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Invest Ophthalmol Vis Sci
; 65(2): 38, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411969
13.
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.
Invest Ophthalmol Vis Sci
; 65(5): 9, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700873
14.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Ophthalmol Retina
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219857
15.
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
16.
Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes.
BMJ Open Ophthalmol
; 7(1)2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161854
17.
Variability of retinopathy consequent upon novel mutations in LAMA1.
Ophthalmic Genet
; 43(5): 671-678, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616092
18.
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.
Front Genet
; 13: 977806, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36072665
19.
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
20.
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