Hendrik P. N. Scholl
University of Basel
282 Papers
1.3K Citations
Hendrik P. N. Scholl is an academic researcher from University of Basel. The author has contributed to research in topics: Medicine & Stargardt disease. The author has an hindex of 51, co-authored 237 publications. Previous affiliations of Hendrik P. N. Scholl include University of Würzburg & Johns Hopkins University.
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Papers
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Kamron N. Khan,Mohammed E El-Asrag,Cristy A. Ku,Ge Holder,Martin McKibbin,Gavin Arno,James A. Poulter,K. Carss,T Bommireddy,Saghar Bagheri,Benjamin Bakall,Hendrik P. N. Scholl,F L Raymond,Carmel Toomes,Chris F. Inglehearn,Mark E. Pennesi,Anthony T. Moore,Michel Michaelides,A. R. Webster,Manir Ali +19 more
TL;DR: This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsydromic widespread retinopathy, or (3) syndromic neurological disease.
The extracellular matrix composition of the optic nerve subarachnoid space
Jie Hao,Jie Hao,Corina Kohler,Hubrecht van den Dorpel,Hendrik P. N. Scholl,Peter Meyer,Hanspeter E. Killer,Albert Neutzner +7 more
TL;DR: A combined bioinformatics and immunohistological approach is used to describe the ECM composition of the optic nerve subarachnoid space and shows strong immunopositivity for collagen-typeI-α1 (COL1A1), lamininγ1 (LAMC1), and VCAN.
Surgical Outcome after Lamellar Macular Hole Associated with Epiretinal Membrane.
TL;DR: PPV with epireTinal membrane peeling in symptomatic patients with LH caused by epiretinal membrane is a safe treatment with favorable functional and anatomical short-term outcomes.
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche,Lars G. Fritsche,Wei Chen,Wei Chen,Matthew Schu,Brian L. Yaspan,Yi Yu,Gudmar Thorleifsson,Donald J. Zack,Donald J. Zack,Satoshi Arakawa,Valentina Cipriani,Valentina Cipriani,Stephan Ripke,Stephan Ripke,Robert P. Igo,Gabriëlle H.S. Buitendijk,Xueling Sim,Xueling Sim,Daniel E. Weeks,Robyn H. Guymer,Joanna E. Merriam,Peter J. Francis,Gregory Hannum,Anita Agarwal,Ana Maria Armbrecht,Isabelle Audo,Tin Aung,Tin Aung,Gaetano R. Barile,Mustapha Benchaboune,Alan C. Bird,Alan C. Bird,Paul N. Bishop,Kari Branham,Matthew Brooks,Alexander J. Brucker,William Cade,Melinda Cain,Peter A. Campochiaro,Chi-Chao Chan,Ching-Yu Cheng,Ching-Yu Cheng,Emily Y. Chew,Kimberly A Chin,Itay Chowers,David Clayton,Radu Cojocaru,Yvette P. Conley,Belinda K. Cornes,Mark J. Daly,Baljean Dhillon,Albert O. Edwards,Evangelos Evangelou,Jesen Fagerness,Jesen Fagerness,Henry Ferreyra,James S. Friedman,Asbjorg Geirsdottir,Ronnie George,Christian Gieger,Neel Gupta,Stephanie A. Hagstrom,Simon P. Harding,Christos Haritoglou,John R. Heckenlively,Frank G. Holz,Guy Hughes,John P. A. Ioannidis,Tatsuro Ishibashi,Peronne Joseph,Gyungah Jun,Yoichiro Kamatani,Nicholas Katsanis,Claudia N. Keilhauer,Jane C. Khan,Jane C. Khan,Jane C. Khan,Ivana K. Kim,Yutaka Kiyohara,Barbara E.K. Klein,Ronald Klein,Jaclyn L. Kovach,Igor Kozak,Clara Lee,Kristine E. Lee,Peter Lichtner,Andrew J. Lotery,Thomas Meitinger,Paul Mitchell,Saddek Mohand-Said,Anthony T. Moore,Anthony T. Moore,Denise J. Morgan,Margaux A. Morrison,Chelsea E. Myers,Adam C. Naj,Yusuke Nakamura,Yukinori Okada,Anton Orlin,M. Carolina Ortube,Mohammad Othman,Chris Pappas,Kyu Hyung Park,Gayle J.T. Pauer,Neal S. Peachey,Neal S. Peachey,Olivier Poch,Rinki Ratna Priya,Robyn Reynolds,Andrea J. Richardson,Raymond Ripp,G. Rudolph,Euijung Ryu,José-Alain Sahel,Debra A. Schaumberg,Hendrik P. N. Scholl,Hendrik P. N. Scholl,Stephen G. Schwartz,William K. Scott,Humma Shahid,Humma Shahid,Haraldur Sigurdsson,Giuliana Silvestri,Theru A. Sivakumaran,R. Theodore Smith,Lucia Sobrin,Eric H Souied,Dwight Stambolian,Hreinn Stefansson,Gwen M. Sturgill-Short,Atsushi Takahashi,Nirubol Tosakulwong,Barbara Truitt,Evangelia E. Tsironi,André G. Uitterlinden,Cornelia M. van Duijn,Lingam Vijaya,Johannes R. Vingerling,Eranga N. Vithana,Eranga N. Vithana,Andrew R. Webster,Andrew R. Webster,H.-Erich Wichmann,Thomas W. Winkler,Tien Yin Wong,Tien Yin Wong,Tien Yin Wong,Alan F. Wright,Diana Zelenika,Ming Zhang,Ming Zhang,Ling Zhao,Kang Zhang,Kang Zhang,Michael L. Klein,Gregory S. Hageman,Mark Lathrop,Kari Stefansson,Kari Stefansson,Rando Allikmets,Paul N. Baird,Michael B. Gorin,Jie Jin Wang,Jie Jin Wang,Caroline C W Klaver,Johanna M. Seddon,Margaret A. Pericak-Vance,Sudha K. Iyengar,John R.W. Yates,John R.W. Yates,John R.W. Yates,Anand Swaroop,Anand Swaroop,Bernhard H. F. Weber,Michiaki Kubo,Margaret M. DeAngelis,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Jonathan L. Haines,Lindsay A. Farrer,Iris M. Heid,Gonçalo R. Abecasis +185 more
TL;DR: A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.