| Mitochondrial double-stranded RNA triggers antiviral signalling in humans A Dhir, S Dhir, LS Borowski, L Jimenez, M Teitell, A Rötig, YJ Crow, ... Nature 560 (7717), 238-242, 2018 | 446 | 2018 |
| Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency M Huemer, D Diodato, B Schwahn, M Schiff, A Bandeira, JF Benoist, ... Journal of inherited metabolic disease 40, 21-48, 2017 | 253 | 2017 |
| Mitochondrial cytochrome c oxidase deficiency M Rak, P Bénit, D Chrétien, J Bouchereau, M Schiff, R El-Khoury, ... Clinical science 130 (6), 393-407, 2016 | 168 | 2016 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 161 | 2021 |
| Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ... The American Journal of Human Genetics 100 (2), 257-266, 2017 | 149 | 2017 |
| Electron transfer flavoprotein deficiency: functional and molecular aspects M Schiff, R Froissart, RKJ Olsen, C Acquaviva, C Vianey-Saban Molecular genetics and metabolism 88 (2), 153-158, 2006 | 135 | 2006 |
| Riboflavin-responsive and-non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency RKJ Olsen, E Koňaříková, TA Giancaspero, S Mosegaard, V Boczonadi, ... The American journal of human genetics 98 (6), 1130-1145, 2016 | 128 | 2016 |
| Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder HO de Baulny, M Schiff, C Dionisi-Vici Molecular genetics and metabolism 106 (1), 12-17, 2012 | 116 | 2012 |
| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 108 | 2019 |
| Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and … M Schiff, C Roda, ML Monin, A Arion, M Barth, N Bednarek, M Bidet, ... Journal of medical genetics 54 (12), 843-851, 2017 | 106 | 2017 |
| Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations S Rudnik-Schöneborn, J Senderek, JC Jen, G Houge, P Seeman, ... Neurology 80 (5), 438-446, 2013 | 100 | 2013 |
| Impact of age at onset and newborn screening on outcome in organic acidurias J Heringer, V Valayannopoulos, AM Lund, FA Wijburg, P Freisinger, ... Journal of inherited metabolic disease 39, 341-353, 2016 | 93 | 2016 |
| Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and … D Cassiman, S Packman, B Bembi, HB Turkia, M Al-Sayed, M Schiff, ... Molecular genetics and metabolism 118 (3), 206-213, 2016 | 92 | 2016 |
| SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance M Schiff, A Veauville-Merllié, CH Su, A Tzagoloff, M Rak, ... New England Journal of Medicine 374 (8), 795-797, 2016 | 86 | 2016 |
| Isolated remethylation disorders: do our treatments benefit patients? M Schiff, JF Benoist, B Tilea, N Royer, S Giraudier, H Ogier de Baulny Journal of inherited metabolic disease 34, 137-145, 2011 | 86 | 2011 |
| Update on transcobalamin deficiency: clinical presentation, treatment and outcome YJ Trakadis, A Alfares, OA Bodamer, M Buyukavci, J Christodoulou, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2014 | 84 | 2014 |
| Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia P Gaignard, M Menezes, M Schiff, A Bayot, M Rak, HO de Baulny, CH Su, ... The American Journal of Human Genetics 93 (2), 384-389, 2013 | 79 | 2013 |
| Identification of novel mutations in the SLC25A15 gene in hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome: A clinical, molecular, and … A Tessa, G Fiermonte, C Dionisi‐Vici, E Paradies, MR Baumgartner, ... Human mutation 30 (5), 741-748, 2009 | 77 | 2009 |
| Treatment of inherited homocystinurias M Schiff, HJ Blom Neuropediatrics, 295-304, 2012 | 76 | 2012 |
| Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? BM Repp, E Mastantuono, CL Alston, M Schiff, TB Haack, A Rötig, ... Orphanet journal of rare diseases 13, 1-10, 2018 | 73 | 2018 |
