| High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency SE Calvo, EJ Tucker, AG Compton, DM Kirby, G Crawford, NP Burtt, ... Nature genetics 42 (10), 851-858, 2010 | 444 | 2010 |
| The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter E Siintola, M Topcu, N Aula, H Lohi, BA Minassian, AD Paterson, XQ Liu, ... The American Journal of Human Genetics 81 (1), 136-146, 2007 | 274 | 2007 |
| Mutations of the mitochondrial ND1 gene as a cause of MELAS DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, ... Journal of medical genetics 41 (10), 784-789, 2004 | 227 | 2004 |
| New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN P Hogarth, A Gregory, MC Kruer, L Sanford, W Wagoner, MR Natowicz, ... Neurology 80 (3), 268-275, 2013 | 213 | 2013 |
| Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase … B Burwinkel, JW Scott, C Bührer, FKH Van Landeghem, GF Cox, ... The American Journal of Human Genetics 76 (6), 1034-1049, 2005 | 198 | 2005 |
| Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma AT Pagnamenta, JW Taanman, CJ Wilson, NE Anderson, R Marotta, ... Human Reproduction 21 (10), 2467-2473, 2006 | 197 | 2006 |
| Autosomal recessive osteopetrosis: diagnosis, management, and outcome CJ Wilson, A Vellodi Archives of disease in childhood 83 (5), 449-452, 2000 | 190 | 2000 |
| Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis CJ Wilson, MP Champion, JE Collins, PT Clayton, JV Leonard Archives of disease in childhood 80 (5), 459-462, 1999 | 150 | 1999 |
| 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 | 117 | 2020 |
| Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin P Huppke, C Brendel, V Kalscheuer, GC Korenke, I Marquardt, ... The American Journal of Human Genetics 90 (1), 61-68, 2012 | 117 | 2012 |
| A SURF1 gene mutation presenting as isolated leukodystrophy S Rahman, RM Brown, WK Chong, CJ Wilson, GK Brown Annals of Neurology: Official Journal of the American Neurological …, 2001 | 100 | 2001 |
| Megalencephalic leukoencephalopathy with cysts without MLC1 defect MS van der Knaap, V Lai, W Köhler, MA Salih, MJ Fonseca, TA Benke, ... Annals of neurology 67 (6), 834-837, 2010 | 90 | 2010 |
| Can untreated PKU patients escape from intellectual disability? A systematic review D Van Vliet, AMJ Van Wegberg, K Ahring, M Bik-Multanowski, N Blau, ... Orphanet journal of rare diseases 13 (1), 149, 2018 | 86 | 2018 |
| Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase P Huppke, C Brendel, GC Korenke, I Marquardt, A Donsante, L Yi, ... Human mutation 33 (8), 1207-1215, 2012 | 55 | 2012 |
| NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect F Baertling, L Sánchez-Caballero, MAM Van Den Brand, LT Wintjes, ... European Journal of Human Genetics 25 (11), 1273-1277, 2017 | 50 | 2017 |
| Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies C Wilson, S Aftimos, A Pereira, R McKay American journal of medical genetics 78 (3), 286-290, 1998 | 47 | 1998 |
| Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder JC Jacobsen, C Wilson, V Cunningham, E Glamuzina, DO Prosser, ... Journal of inherited metabolic disease 39 (2), 305-308, 2016 | 46 | 2016 |
| Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: a case series A Selvanathan, C Ellaway, C Wilson, P Owens, PJ Shaw, K Bhattacharya JIMD Reports, Volume 41: Focus Issue: Adults and Metabolism, 81-89, 2018 | 45 | 2018 |
| Apolipoprotein C‐II deficiency presenting as a lipid encephalopathy in infancy CJ Wilson, CP Oliva, F Maggi, AL Catapano, S Calandra Annals of neurology 53 (6), 807-810, 2003 | 45 | 2003 |
| Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency S Puusepp, R Kovacs-Nagy, B Alhaddad, M Braunisch, GF Hoffmann, ... European Journal of Human Genetics 26 (3), 407-419, 2018 | 44 | 2018 |
