| Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis JM Kaplan, S H Kim, KN North, H Rennke, L A Correia, HQ Tong, ... Nature genetics 24 (3), 251-256, 2000 | 1599 | 2000 |
| ACTN3 genotype is associated with human elite athletic performance N Yang, DG MacArthur, JP Gulbin, AG Hahn, AH Beggs, S Easteal, ... The American Journal of human genetics 73 (3), 627-631, 2003 | 1258 | 2003 |
| The nature and frequency of cognitive deficits in children with neurofibromatosis type 1 SL Hyman, A Shores, KN North Neurology 65 (7), 1037-1044, 2005 | 685 | 2005 |
| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), eaal5209, 2017 | 657 | 2017 |
| Distinctive patterns of microRNA expression in primary muscular disorders I Eisenberg, A Eran, I Nishino, M Moggio, C Lamperti, AA Amato, ... Proceedings of the National Academy of Sciences 104 (43), 17016-17021, 2007 | 603 | 2007 |
| A common nonsense mutation results in α-actinin-3 deficiency in the general population KN North, N Yang, D Wattanasirichaigoon, M Mills, S Easteal, AH Beggs Nature genetics 21 (4), 353-354, 1999 | 585 | 1999 |
| Differential expression of the actin-binding proteins, α-actinin-2 and-3, in different species: implications for the evolution of functional redundancy M Mills, N Yang, R Weinberger, DL Vander Woude, AH Beggs, S Easteal, ... Human molecular genetics 10 (13), 1335-1346, 2001 | 568 | 2001 |
| A brief history of human disease genetics M Claussnitzer, JH Cho, R Collins, NJ Cox, ET Dermitzakis, ME Hurles, ... Nature 577 (7789), 179-189, 2020 | 565 | 2020 |
| Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ... Nature genetics 23 (2), 208-212, 1999 | 461 | 1999 |
| Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ... Brain 130 (10), 2725-2735, 2007 | 455 | 2007 |
| Genes and human elite athletic performance DG MacArthur, KN North East African Running, 241-257, 2007 | 418 | 2007 |
| Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans DG MacArthur, JT Seto, JM Raftery, KG Quinlan, GA Huttley, JW Hook, ... Nature genetics 39 (10), 1261-1265, 2007 | 386 | 2007 |
| A gene for speed? The evolution and function of α‐actinin‐3 DG MacArthur, KN North Bioessays 26 (7), 786-795, 2004 | 372 | 2004 |
| An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance DG MacArthur, JT Seto, S Chan, KGR Quinlan, JM Raftery, N Turner, ... Human molecular genetics 17 (8), 1076-1086, 2008 | 355 | 2008 |
| Diagnostic approach to the congenital muscular dystrophies CG Bönnemann, CH Wang, S Quijano-Roy, N Deconinck, E Bertini, ... Neuromuscular disorders 24 (4), 289-311, 2014 | 343 | 2014 |
| Cognitive function and academic performance in neurofibrornatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force KN North, V Riccardi, C Samango-Sprouse, R Ferner, B Moore, E Legius, ... Neurology 48 (4), 1121-1127, 1997 | 340 | 1997 |
| MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes M Bastiani, L Liu, MM Hill, MP Jedrychowski, SJ Nixon, HP Lo, ... Journal of Cell Biology 185 (7), 1259-1273, 2009 | 335 | 2009 |
| Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ... American journal of preventive medicine 20 (2), 16-66, 2001 | 335 | 2001 |
| Nemaline myopathy: a clinical study of 143 cases MM Ryan, C Schnell, CD Strickland, LK Shield, G Morgan, ST Iannaccone, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 324 | 2001 |
| Approach to the diagnosis of congenital myopathies KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ... Neuromuscular Disorders 24 (2), 97-116, 2014 | 323 | 2014 |
