| Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 11140 | 2021 |
| A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia T Borsello, PGH Clarke, L Hirt, A Vercelli, M Repici, DF Schorderet, ... Nature medicine 9 (9), 1180-1186, 2003 | 826 | 2003 |
| Cell-permeable peptide inhibitors of JNK: novel blockers of β-cell death C Bonny, A Oberson, S Negri, C Sauser, DF Schorderet Diabetes 50 (1), 77-82, 2001 | 699 | 2001 |
| Kerato-epithelin mutations in four 5q31-linked corneal dystrophies FL Munier, E Korvatska, A Djemaï, DL Paslier, L Zografos, G Pescia, ... Nature genetics 15 (3), 247-251, 1997 | 652 | 1997 |
| Mutations of keratinocyte transglutaminase in lamellar ichthyosis M Huber, I Rettler, K Bernasconi, E Frenk, SPM Lavrijsen, M Ponec, A Bon, ... Science 267 (5197), 525-528, 1995 | 597 | 1995 |
| A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ... Nature genetics 22 (2), 199-202, 1999 | 541 | 1999 |
| Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study E Nelis, C Van Broeckhoven, P De Jonghe, A Löfgren, A Vandenberghe, ... European Journal of Human Genetics 4 (1), 25-33, 1996 | 524 | 1996 |
| Zebrafish: Housing and husbandry recommendations P Aleström, L D’Angelo, PJ Midtlyng, DF Schorderet, S Schulte-Merker, ... Laboratory animals 54 (3), 213-224, 2020 | 485 | 2020 |
| Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy S Biswas, FL Munier, J Yardley, N Hart-Holden, R Perveen, P Cousin, ... Human molecular genetics 10 (21), 2415-2423, 2001 | 452 | 2001 |
| A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12. 3: the first 2,253 cases F Rousseau, D Heitz, J Tarleton, J MacPherson, H Malmgren, N Dahl, ... American journal of human genetics 55 (2), 225, 1994 | 372 | 1994 |
| The γ-crystallins and human cataracts: a puzzle made clearer E Héon, M Priston, DF Schorderet, GD Billingsley, PO Girard, N Lubsen, ... The American Journal of Human Genetics 65 (5), 1261-1267, 1999 | 322 | 1999 |
| Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice Z Yang, Y Chen, C Lillo, J Chien, Z Yu, M Michaelides, M Klein, ... The Journal of clinical investigation 118 (8), 2908-2916, 2008 | 300 | 2008 |
| Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 A Li, X Jiao, FL Munier, DF Schorderet, W Yao, F Iwata, M Hayakawa, ... The American Journal of Human Genetics 74 (5), 817-826, 2004 | 287 | 2004 |
| TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ... The American Journal of Human Genetics 85 (5), 720-729, 2009 | 275 | 2009 |
| Methylation silencing and mutations of the p14ARF and p16INK4a genes in colon cancer N Burri, P Shaw, H Bouzourene, I Sordat, B Sordat, M Gillet, D Schorderet, ... Laboratory investigation 81 (2), 217-229, 2001 | 254 | 2001 |
| The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter JC Fleming, E Tartaglini, MP Steinkamp, DF Schorderet, N Cohen, ... Nature genetics 22 (3), 305-308, 1999 | 254 | 1999 |
| BIGH3 mutation spectrum in corneal dystrophies FL Munier, BE Frueh, P Othenin-Girard, S Uffer, P Cousin, MX Wang, ... Investigative ophthalmology & visual science 43 (4), 949-954, 2002 | 248 | 2002 |
| Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration LY Marmorstein, FL Munier, Y Arsenijevic, DF Schorderet, PJ McLaughlin, ... Proceedings of the National Academy of Sciences 99 (20), 13067-13072, 2002 | 238 | 2002 |
| Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness C Zeitz, B Kloeckener-Gruissem, U Forster, S Kohl, I Magyar, B Wissinger, ... The American Journal of Human Genetics 79 (4), 657-667, 2006 | 207 | 2006 |
| Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis F Macari, M Landau, P Cousin, B Mevorah, S Brenner, R Panizzon, ... The American Journal of Human Genetics 67 (5), 1296-1301, 2000 | 189 | 2000 |
