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Giulia Ascari

Prijzen & Erkenningen

21 Resultaten

2022

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeGavin ArnoJulie JacobDavid CreytensJo Van Dorpe et al.

2021

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMiriam BauwensMattias Van HeetveldeGavin ArnoJulie JacobDavid Creytens et al.

A1 Artikel in een tijdschrift in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia AscariNanna D RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

2020

CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases

Giulia AscariElfride De BaereFrauke CoppietersKris Vleminckx

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsKirsten A. WunderlichMatias WagnerKonstantinos NikopoulosPernille MartensIrina Balikova et al.

A1 Artikel in een tijdschrift in HUMAN MUTATION

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing

Giulia AscariNanna D. RendtorffJulie JacobJulie De ZaeytijdValerie BaumontMarieke De BruyneToon RosseelMattias Van HeetveldeTim De PooterWouter De Coster et al.

2019

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsIrina BalikovaLara DeryckeGabriële HoltappelsOlga KryskoThalia Van Laethem et al.

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanNina LambrechtsThalia Van LaethemToon RosseelPietro FarinelliDavid CreytensIrina BalikovaJan GerrisClaus Bachert et al.

2018

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

Giulia AscariThomas NaertTom Van NieuwenhuysenMarjolein CarronSuzan DemuynckChris GuerinFrauke CoppietersKris VleminckxElfride De Baere

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

Giulia AscariThomas NaertTom Van NieuwenhuysenSuzan DemuynckChris GuerinFrauke CoppietersKris VleminckxElfride De Baere

2017

Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility

Giulia AscariStijn Van de SompeleLara DeryckeGabriële HoltappelsOlga KryskoJo Van DorpeDavid CreytensThalia Van LaethemIrina BalikovaJan Gerris et al.

Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.

Giulia AscariStijn Van de SompeleLara DeryckeGabriële HoltappelsOlga KryskoJo Van DorpeDavid CreytensThalia Van LaethemIrina BalikovaJan Gerris et al.

2016

Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke CoppietersGiulia AscariKatharina DannhausenKonstantinos NikopoulosFrank PeelmanMarcus KarlstetterMingchu XuCécile BrachetIsabelle MeunierMiltiadis K Tsilimbaris et al.

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

2014

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Paola BenaglioPatricia Fernandez San JoseAlmudena Avila-FernandezGiulia AscariShyana HarperGaël ManesCarmen AyusoChristian HamelEliot L BersonCarlo Rivolta

A1 Artikel in een tijdschrift in MOLECULAR VISION

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

CJ HoggartG VenturiniM ManginoF GomezGiulia AscariJH ZhaoA TeumerTW WinklerN TsernikovaJ Luan et al.

A1 Artikel in een tijdschrift in PLOS GENETICS