Publications

Selected Key Publications

Partial recovery of visual function in a blind patient after optogenetic therapy

Sahel JA, Boulanger-Scemama E, Pagot C, Arleo A, Galluppi F, Martel JN, Esposti SD, Delaux A, de Saint Aubert JB, de Montleau C, Gutman E, Audo I, Duebel J, Picaud S, Dalkara D, Blouin L, Taiel M, Roska B

Nat Med. 2021

Charting human development using a multi-endodermal organ atlas and organoid models

Yu Q, Kilik U, Holloway EM, Tsai YH, Harmel C, Wu A, Wu JH, Czerwinski M, Childs CJ, He Z, Capeling MM, Huang S, Glass IA, Higgins PDR, Treutlein B, Spence JR, Camp JG

Cell. 2021

The Progression of Stargardt Disease Using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15

Schönbach EM, Janeschitz-Kriegl L, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, Cideciyan AV, Sunness JS, Weleber RG, Ip MS, Sadda SR, Scholl HPN; ProgStar Study Group

Am J Ophthalmol. 2021

Unraveling the deep learning gearbox in optical coherence tomography image segmentation towards explainable artificial intelligence

Maloca PM, Müller PL, Lee AY, Tufail A, Balaskas K, Niklaus S, Kaiser P, Suter S, Zarranz-Ventura J, Egan C, Scholl HPN, Schnitzer TK, Singer T, Hasler PW, Denk N

Commun Biol. 2021

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Quinodoz M, Peter VG, Bedoni N, Royer Bertrand B, Cisarova K, Salmaninejad A, Sepahi N, Rodrigues R, Piran M, Mojarrad M, Pasdar A, Ghanbari Asad A, Sousa AB, Coutinho Santos L, Superti-Furga A, Rivolta C

Nat Commun. 2021

Cell Types of the Human Retina and its Organoids at Single-Cell Resolution

Cameron S. Cowan, Magdalena Renner, Martina De Gennaro, Brigitte Gross-Scherf, David Goldblum, Yanyan Hou, Martin Munz, Tiago M. Rodrigues, Jacek Krol, Tamas Szikra, Rachel Cuttat, Annick Waldt, Panagiotis Papasaikas, Roland Diggelmann, Claudia P. Patino-Alvarez, Patricia Galliker, Stefan E. Spirig, Dinko Pavlinic, Nadine Gerber-Hollbach, Sven Schuierer, Aldin Srdanovic, Marton Balogh, Riccardo Panero, Akos Kusnyerik, Arnold Szabo, Michael B. Stadler, Selim Orgül, Simone Picelli, Pascal W. Hasler, Andreas Hierlemann, Hendrik P.N. Scholl, Guglielmo Roma, Florian Nigsch, Botond Roska

Cell. 2020

Restoring light sensitivity using tunable near-infrared sensors

Dasha Nelidova, Rei K. Morikawa, Cameron S. Cowan, Zoltan Raics, David Goldblum, Hendrik P. N. Scholl, Tamas Szikra, Arnold Szabo, Daniel Hillier, Botond Roska

Science. 2020

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

Hanany M, Rivolta C, Sharon D

Proc Natl Acad Sci USA. 2020

Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months: ProgStar Report No. 13

Schönbach EM, Strauss RW, Muñoz B, Wolfson Y, Ibrahim MA, Birch DG, Zrenner E, Sunness JS, Ip MS, Sadda SR, West SK, Scholl HPN; ProgStar Study Group

JAMA Ophthalmol. 2020

Validation of virtual reality orbitometry bridges digital and physical worlds

Maloca PM, Faludi B, Zelechowski M, Jud C, Vollmar T, Hug S, Müller PL, de Carvalho ER, Zarranz-Ventura J, Reich M, Lange C, Egan C, Tufail A, Hasler PW, Scholl HPN, Cattin PC

Nature Sci Rep. 2020

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

György B, Nist-Lund C, Pan B, Asai Y, Karavitaki KD, Kleinstiver BP, Garcia SP, Zaborowski MP, Solanes P, Spataro S, Schneider BL, Joung JK, Géléoc GSG, Holt JR, Corey DP

Nat Med. 2019

Targeting neuronal and glial cell types with synthetic promoter AAVs in mice, non-human primates and humans

Jüttner J, Szabo A, Gross-Scherf B, Morikawa R, Rompani S, Hantz P, Szikra T, Esposti E, Cowan C, Bharioke A, Patino-Alvarez C, Keles Ö, Kusnyerik A, Azoulay T, Hartl D, Krebs A, Schübeler D, Hajdu R, Lukats A, Nemeth J, Nagy Z, Wu KC, Wu RH, Xiang L, Fang XL, Jin ZB, Goldblum D, Hasler P, Scholl H, Krol J, Roska B

Nat Neurosci. 2019

Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11

Strauss RW, Kong X, Ho A, Jha A, West S, Ip M, Bernstein PS, Birch DG, Cideciyan AV, Michaelides M, Sahel JA, Sunness JS, Traboulsi EI, Zrenner E, Pitetta S, Jenkins D, Hariri AH, Sadda S, Scholl HPN; ProgStar Study Group

JAMA Ophthalmol. 2019

Validation of automated artificial intelligence segmentation of optical coherence tomography images

Maloca PM, Lee AY, de Carvalho ER, Okada M, Fasler K, Leung I, Hörmann B, Kaiser P, Suter S, Hasler PW, Zarranz-Ventura J, Egan C, Heeren TFC, Balaskas K, Tufail A, Scholl HPN

PLoS One. 2019

Organoid single-cell genomic atlas uncovers human-specific features of brain development

Kanton S, Boyle MJ, He Z, Santel M, Weigert A, Sanchís-Calleja F, Guijarro P, Sidow L, Fleck JS, Han D, Qian Z, Heide M, Huttner WB, Khaitovich P, Pääbo S, Treutlein B, Camp JG

Nature. 2019

Restoring vision

Roska B, Sahel JA

Nature. 2018

Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10

Kong X, Fujinami K, Strauss RW, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E, Cheetham JK, Scholl HPN; ProgStar Study Group

JAMA Ophthalmol. 2018

How Diverse Retinal Functions Arise from Feedback at the First Visual Synapse

Drinnenberg A, Franke F, Morikawa RK, Jüttner J, Hillier D, Hantz P, Hierlemann A, Azeredo da Silveira R, Roska B

Neuron. 2018

High-Performance Virtual Reality Volume Rendering of Original Optical Coherence Tomography Point-Cloud Data Enhanced With Real-Time Ray Casting

Maloca PM, de Carvalho JER, Heeren T, Hasler PW, Mushtaq F, Mon-Williams M, Scholl HPN, Balaskas K, Egan C, Tufail A, Witthauer L, Cattin PC

Transl Vis Sci Technol. 2018

Safety and Feasibility of a Novel Sparse Optical Coherence Tomography Device for Patient-Delivered Retina Home Monitoring

Maloca P, Hasler PW, Barthelmes D, Arnold P, Matthias M, Scholl HPN, Gerding H, Garweg J, Heeren T, Balaskas K, de Carvalho JER, Egan C, Tufail A, Zweifel SA

Transl Vis Sci Technol. 2018