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ARVO Annual Meeting Abstract June 2020

Inherited Retinal Disease (IRD): Online medical education can significantly improve knowledge and confidence for detection in general ophthalmology practice and referral for gene therapy assessment

Siggi Trier; Deborah Middleton; Peter Schoonheim; Jason Comander; Helene Dollfus; Stephen R Russell; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3020. doi:

ARVO Annual Meeting Abstract June 2020

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Ine Strubbe; Jacque L Duncan; Arlene V Drack; Andrea L Vincent; Tomas Aleman; Caroline Van Cauwenbergh; Elfride De Baere; Helene Dollfus; Nathalie Goetz; Bart Peter Leroy; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4463. doi:

ARVO Annual Meeting Abstract July 2019

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

Isabelle S Audo; Maria Solaguren-Beascoa; Kinga Bujakowska; Cécile Méjécase; Lisa Emmengger; Saddek Mohand-Said; Thierry D Leveillard; Eric A Pierce; Helene Dollfus; Jose Alain Sahel; Shomi Bhattacharya; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):381. doi:

ARVO Annual Meeting Abstract July 2019

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Claire-Marie DHAENENS; Mubeen Khan; Aurore Devos; Charlene Piriou; Duaa ELMELIK; Eline Manders; Emeline Goreki; Yaumara Perdomo; Helene Dollfus; Xavier Zanlonghi; Béatrice Bocquet; Isabelle Anne Meunier; Bernard Puech; Sabine defoort; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4930. doi:

ARVO Annual Meeting Abstract June 2017

A mutation in VPS15 (PIK3R4) affects IFT20 cilia trafficking and causes a ciliopathy with early onset retinitis pigmentosa

Helene J Dollfus; Corinne Stoetzel; Séverine Bär; Philippe Hammann; Christelle Etard; Sylvie Friant

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4514. doi:

ARVO Annual Meeting Abstract September 2016

Survey of ophthalmic and systemic features in patients with PNPLA6 -related disorders

Robert B Hufnagel; Sarah Hull; Jose Luiz Pedroso; Shuan Dai; Andrea Nemeth; Helene Dollfus; Brian Patrick Brooks; Robert Sisk; Michel Michaelides; Anthony T Moore; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6564. doi:

ARVO Annual Meeting Abstract April 2014

Is C8orf37 the eighteenth BBS gene? A case report

Elise Heon; Sophie Qin; Helene Dollfus; Val Sheffield; Edwin M Stone; Gail Billingsley; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3271. doi:

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659. doi:

ARVO Annual Meeting Abstract April 2011

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Jean-Michel Rozet; Remi Salomon; Nathalie Delphin; Eduardo D. Silva; Helene Dollfus; Christian P. Hamel; Arnold Munnich; Sophie Saunier; Josseline Kaplan; Isabelle Perrault

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5368. doi:

ARVO Annual Meeting Abstract April 2011

Bardet Biedl Syndrome Chaperonin-like Proteins Depletion Induces Photoreceptor Cells Death Due To Endoplasmic Reticulum Stress

Helene Dollfus; Anais Mockel; Dominique Schlicht; Nadia Messaddeq; Vincent Marion

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5414. doi:

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