| ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ... The American Journal of Human Genetics 93 (2), 211-223, 2013 | 153 | 2013 |
| Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy N Darin, E Reid, L Prunetti, L Samuelsson, RA Husain, M Wilson, ... The American Journal of Human Genetics 99 (6), 1325-1337, 2016 | 147 | 2016 |
| TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies CA Powell, R Kopajtich, AR D’Souza, J Rorbach, LS Kremer, RA Husain, ... The American Journal of Human Genetics 97 (2), 319-328, 2015 | 97 | 2015 |
| Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study C Weiß, A Ziegler, LL Becker, J Johannsen, H Brennenstuhl, G Schreiber, ... The Lancet Child & Adolescent Health 6 (1), 17-27, 2022 | 79 | 2022 |
| Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec—AVXS-101: Consensus paper of the German representatives of the Society for Pediatric … A Ziegler, E Wilichowski, U Schara, A Hahn, W Müller-Felber, ... Der Nervenarzt 91, 518-529, 2020 | 37* | 2020 |
| Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia RA Husain, M Grimmel, M Wagner, JC Hennings, C Marx, RG Feichtinger, ... The American Journal of Human Genetics 107 (2), 364-373, 2020 | 36 | 2020 |
| The genotypic and phenotypic spectrum of MTO1 deficiency JJ O'Byrne, M Tarailo-Graovac, A Ghani, M Champion, C Deshpande, ... Molecular genetics and metabolism 123 (1), 28-42, 2018 | 29 | 2018 |
| LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism S Becker, S Röhnike, S Empting, D Haas, K Mohnike, S Beblo, U Mütze, ... Analytical and bioanalytical chemistry 407, 5227-5233, 2015 | 28 | 2015 |
| German Pediatric Nephrology (GPN) Study Group and EARLY PRO-TECT Alport Investigators. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm … O Gross, B Tönshoff, LT Weber, L Pape, K Latta, H Fehrenbach, ... Kidney Int 97 (6), 1275-1286, 2020 | 27 | 2020 |
| Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 D Lenz, DEC Smith, E Crushell, RA Husain, GS Salomons, B Alhaddad, ... Genetics in Medicine 22 (11), 1863-1873, 2020 | 25 | 2020 |
| Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy A Pechmann, M Behrens, K Dörnbrack, A Tassoni, S Stein, S Vogt, ... Brain 146 (2), 668-677, 2023 | 22 | 2023 |
| Epilepsy in aicardi–goutières syndrome G Ramantani, LG Maillard, T Bast, RA Husain, P Niggemann, J Kohlhase, ... european journal of paediatric neurology 18 (1), 30-37, 2014 | 21 | 2014 |
| Natural history of Krabbe disease–a nationwide study in Germany using clinical and MRI data SI Krieg, I Krägeloh-Mann, S Groeschel, S Beck-Wödl, RA Husain, ... Orphanet Journal of Rare Diseases 15, 1-17, 2020 | 20 | 2020 |
| Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss EM Richard, S Bakhtiari, APL Marsh, R Kaiyrzhanov, M Wagner, S Shetty, ... The American Journal of Human Genetics 108 (10), 2006-2016, 2021 | 17 | 2021 |
| Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy DC Schorling, H Kölbel, A Hentschel, A Pechmann, N Meyer, B Wirth, ... European journal of neurology 29 (7), 2084-2096, 2022 | 13 | 2022 |
| Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome J Van der Spek, J Den Hoed, LS Blok, AJM Dingemans, D Schijven, ... Genetics in Medicine 24 (6), 1283-1296, 2022 | 11 | 2022 |
| Expanded phenotype of AARS1-related white matter disease G Helman, MI Mendes, F Nicita, L Darbelli, O Sherbini, T Moore, ... Genetics in Medicine 23 (12), 2352-2359, 2021 | 11 | 2021 |
| Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric … S Shai, R Perez-Becker, O Andres, S Bakhtiar, U Bauman, H von Bernuth, ... Journal of Clinical Immunology 40, 708-717, 2020 | 11 | 2020 |
| Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study A Pechmann, M Behrens, K Dörnbrack, A Tassoni, F Wenzel, S Stein, ... Orphanet Journal of Rare Diseases 17 (1), 384, 2022 | 10 | 2022 |
| The TLR‐chaperone CNPY3 is a critical regulator of NLRP3‐inflammasome activation M Ghait, RA Husain, SN Duduskar, TB Haack, M Rooney, B Göhrig, ... European Journal of Immunology 52 (6), 907-923, 2022 | 8 | 2022 |
