| Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ... Nature genetics 44 (11), 1243-1248, 2012 | 903 | 2012 |
| Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 813 | 2009 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 490 | 2007 |
| Inborn metabolic diseases JM Saudubray Springer, 2012 | 453 | 2012 |
| Diagnosis and management of glutaric aciduria type I–revised recommendations S Kölker, E Christensen, JV Leonard, CR Greenberg, A Boneh, ... Journal of inherited metabolic disease 34, 677-694, 2011 | 388 | 2011 |
| A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins A Navarro-Sastre, F Tort, O Stehling, MA Uzarska, JA Arranz, M Del Toro, ... The American Journal of Human Genetics 89 (5), 656-667, 2011 | 305 | 2011 |
| 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 | 284 | 2017 |
| The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 277 | 2015 |
| The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ... Journal of inherited metabolic disease 38, 1059-1074, 2015 | 255 | 2015 |
| Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ... Orphanet journal of rare diseases 12, 1-21, 2017 | 224 | 2017 |
| 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 | 219 | 2021 |
| Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management JM Saudubray, À Garcia-Cazorla Pediatric Clinics 65 (2), 179-208, 2018 | 213 | 2018 |
| GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction R Montero, D Yubero, J Villarroya, D Henares, C Jou, MA Rodríguez, ... PloS one 11 (2), e0148709, 2016 | 181 | 2016 |
| Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice LC Lopez, HO Akman, Á García-Cazorla, B Dorado, R Martí, I Nishino, ... Human molecular genetics 18 (4), 714-722, 2009 | 164 | 2009 |
| Clinical and molecular genetic features of ARC syndrome P Gissen, L Tee, CA Johnson, E Genin, A Caliebe, D Chitayat, ... Human genetics 120, 396-409, 2006 | 147 | 2006 |
| Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1 RN Rosenberg, JM Pascual Academic press, 2020 | 131 | 2020 |
| Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ... Human mutation 34 (5), 686-696, 2013 | 128 | 2013 |
| Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance HO Akman, B Dorado, LC Lopez, Á García-Cazorla, MR Vila, LM Tanabe, ... Human molecular genetics 17 (16), 2433-2440, 2008 | 127 | 2008 |
| Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains A Alonso, P Merchán, JE Sandoval, L Sánchez-Arrones, A Garcia-Cazorla, ... Brain structure and function 218, 1229-1277, 2013 | 123 | 2013 |
| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ... Orphanet journal of rare diseases 15, 1-30, 2020 | 120 | 2020 |
