| Association of intravenous immunoglobulins plus methylprednisolone vs immunoglobulins alone with course of fever in multisystem inflammatory syndrome in children N Ouldali, J Toubiana, D Antona, E Javouhey, F Madhi, M Lorrot, ... Jama 325 (9), 855-864, 2021 | 386 | 2021 |
| Factors associated with severe SARS-CoV-2 infection N Ouldali, DD Yang, F Madhi, M Levy, J Gaschignard, I Craiu, T Guiddir, ... Pediatrics 147 (3), 2021 | 104 | 2021 |
| Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function GI Rice, S Park, F Gavazzi, LA Adang, LA Ayuk, L Van Eyck, L Seabra, ... Human mutation 41 (4), 837-849, 2020 | 95 | 2020 |
| Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? A Molin, A Wiedemann, N Demers, M Kaufmann, J Do Cao, L Mainard, ... Journal of Bone and Mineral Research 32 (9), 1893-1899, 2017 | 79 | 2017 |
| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients C Staufner, B Peters, M Wagner, S Alameer, I Barić, P Broué, D Bulut, ... Genetics in Medicine 22 (3), 610-621, 2020 | 65 | 2020 |
| Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare … T Besnard, N Sloboda, A Goldenberg, S Küry, B Cogné, F Breheret, ... Genetics in Medicine 21 (9), 2025-2035, 2019 | 63 | 2019 |
| Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect CM Bérat, S Montealegre, A Wiedemann, MLC Nuzum, A Blondel, ... Journal of Inherited Metabolic Disease 44 (2), 415-425, 2021 | 46 | 2021 |
| Treatment of ARS deficiencies with specific amino acids G Kok, L Tseng, IF Schene, ME Dijsselhof, G Salomons, MI Mendes, ... Genetics in Medicine 23 (11), 2202-2207, 2021 | 31 | 2021 |
| 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case J Do Cao, A Wiedemann, T Quinaux, SF Battaglia-Hsu, L Mainard, ... Molecular genetics and metabolism reports 9, 42-45, 2016 | 31 | 2016 |
| SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders R Ghemrawi, C Arnold, SF Battaglia-Hsu, G Pourié, I Trinh, C Bassila, ... Metabolism 101, 153992, 2019 | 30 | 2019 |
| Efficacy of low dose nitisinone in the management of alkaptonuria N Sloboda, A Wiedemann, M Merten, A Alqahtani, E Jeannesson, A Blum, ... Molecular Genetics and Metabolism 127 (3), 184-190, 2019 | 26 | 2019 |
| La phénylcétonurie A Wiedemann, A Oussalah, É Jeannesson, JL Guéant, F François Med. Sci 36, 725-734, 2020 | 21 | 2020 |
| French Covid-19 paediatric inflammation consortium. association of intravenous immunoglobulins plus methylprednisolone vs immunoglobulins alone with course of fever in … N Ouldali, J Toubiana, D Antona, E Javouhey, F Madhi, M Lorrot, ... Jama 325 (9), 855-864, 2021 | 20 | 2021 |
| Annual injection of zoledronic acid improves bone status in children with cerebral palsy and Rett syndrome A Wiedemann, E Renard, M Hernandez, B Dousset, F Brezin, L Lambert, ... Calcified Tissue International 104, 355-363, 2019 | 17 | 2019 |
| Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study JP Mergnac, A Wiedemann, C Chery, JM Ravel, F Namour, JL Guéant, ... Human genetics, 1-10, 2022 | 16 | 2022 |
| Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis A Wiedemann, A Oussalah, N Lamireau, M Theron, M Julien, JP Mergnac, ... Cell Reports Medicine 3 (7), 2022 | 12 | 2022 |
| Menstrual toxic shock syndrome: a French nationwide multicenter retrospective study D Contou, G Colin, B Travert, S Jochmans, M Conrad, JB Lascarrou, ... Clinical Infectious Diseases 74 (2), 246-253, 2022 | 12 | 2022 |
| Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications C Castiglioni, F Feillet, C Barnerias, A Wiedemann, J Muchart, F Cortes, ... Human mutation 42 (2), 142-149, 2021 | 12 | 2021 |
| Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? A Wiedemann, B Leheup, SF Battaglia-Hsu, P Jonveaux, E Jeannesson, ... Molecular Genetics and Metabolism 110, S62-S65, 2013 | 10 | 2013 |
| Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis A Wiedemann, C Chery, D Coelho, J Flayac, N Gueguen, ... Journal of human genetics 65 (2), 91-98, 2020 | 9 | 2020 |
