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| New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey PL Beales, N Elcioglu, AS Woolf, D Parker, FA Flinter Journal of medical genetics 36 (6), 437-446, 1999 | 1154 | 1999 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 939 | 2017 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 772 | 2015 |
| X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males JP Jais, B Knebelmann, I Giatras, M De Marchi, G Rizzoni, A Renieri, ... Journal of the American Society of Nephrology 11 (4), 649-657, 2000 | 679 | 2000 |
| X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport Syndrome Concerted … JP Jais, B Knebelmann, I Giatras, M De Marchi, G Rizzoni, A Renieri, ... Journal of the American Society of Nephrology 14 (10), 2603-2610, 2003 | 559 | 2003 |
| Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy J Savige, M Gregory, O Gross, C Kashtan, J Ding, F Flinter Journal of the American Society of Nephrology 24 (3), 364-375, 2013 | 431 | 2013 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 430 | 2017 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 411 | 2021 |
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| CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin V Karamatic Crew, N Burton, A Kagan, CA Green, C Levene, F Flinter, ... Blood 104 (8), 2217-2223, 2004 | 311 | 2004 |
| Genetics of classic Alport's syndrome FA Flinter, C Chantler, JS Cameron, I Houston, M Bobrow The Lancet 332 (8618), 1005-1007, 1988 | 306 | 1988 |
| Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. PL Beales, AM Warner, GA Hitman, R Thakker, FA Flinter Journal of Medical Genetics 34 (2), 92-98, 1997 | 289 | 1997 |
| Robertsonian translocations—reproductive risks and indications for preimplantation genetic diagnosis PN Scriven, FA Flinter, PR Braude, CM Ogilvie Human Reproduction 16 (11), 2267-2273, 2001 | 218 | 2001 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 215 | 2018 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 189 | 2019 |
| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 181 | 2014 |
| Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height K Tatton-Brown, S Hanks, E Ruark, A Zachariou, SDV Duarte, E Ramsay, ... Oncotarget 2 (12), 1127, 2011 | 180 | 2011 |
| Evidence of digenic inheritance in Alport syndrome MA Mencarelli, L Heidet, H Storey, M van Geel, B Knebelmann, C Fallerini, ... Journal of medical genetics 52 (3), 163-174, 2015 | 176 | 2015 |
| Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1 SA Feather, S Malcolm, AS Woolf, V Wright, D Blaydon, CJD Reid, ... The American Journal of Human Genetics 66 (4), 1420-1425, 2000 | 171 | 2000 |
