| Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane, GE Farmer, JM Lamiell, ... Nature 332 (6161), 268-269, 1988 | 791 | 1988 |
| Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis IMBH van de Laar, RA Oldenburg, G Pals, JW Roos-Hesselink, ... Nature genetics 43 (2), 121-126, 2011 | 717 | 2011 |
| A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) RMW Hofstra, J Osinga, G Tan-Sindhunata, Y Wu, EJ Kamsteeg, RP Stulp, ... Nature genetics 12 (4), 445-447, 1996 | 423 | 1996 |
| Genetic analysis of von Hippel‐Lindau disease M Nordstrom‐O'Brien, RB van der Luijt, E van Rooijen, ... Human mutation 31 (5), 521-537, 2010 | 347 | 2010 |
| The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions J Simón-Sánchez, EGP Dopper, PE Cohn-Hokke, RK Hukema, ... Brain 135 (3), 723-735, 2012 | 331 | 2012 |
| Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy JI van Waning, K Caliskan, YM Hoedemaekers, ... Journal of the American College of Cardiology 71 (7), 711-722, 2018 | 288 | 2018 |
| The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy YM Hoedemaekers, K Caliskan, M Michels, I Frohn-Mulder, ... Circulation: Cardiovascular Genetics 3 (3), 232-239, 2010 | 284 | 2010 |
| Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study EM Hoogerwaard, E Bakker, PF Ippel, JC Oosterwijk, DF Majoor-Krakauer, ... The Lancet 353 (9170), 2116-2119, 1999 | 277 | 1999 |
| Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs E Bakker, N Goor, K Wrogemann, LM Kunkel, WA Fenton, ... The Lancet 325 (8430), 655-658, 1985 | 259 | 1985 |
| Genetic epidemiology of amyotrophic lateral sclerosis D Majoor‐Krakauer, PJ Willems, A Hofman Clinical genetics 63 (2), 83-101, 2003 | 228 | 2003 |
| Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy EM Hoogerwaard, PA Van der Wouw, AAM Wilde, E Bakker, PF Ippel, ... Neuromuscular Disorders 9 (5), 347-351, 1999 | 217 | 1999 |
| Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies YM Hoedemaekers, K Caliskan, D Majoor-Krakauer, I van de Laar, ... European heart journal 28 (22), 2732-2737, 2007 | 180 | 2007 |
| Clinical spectrum of ataxia-telangiectasia in adulthood MMM Verhagen, WF Abdo, M Willemsen, FBL Hogervorst, D Smeets, ... Neurology 73 (6), 430-437, 2009 | 178 | 2009 |
| Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study MMM Verhagen, JI Last, FBL Hogervorst, DFCM Smeets, N Roeleveld, ... Human mutation 33 (3), 561-571, 2012 | 167 | 2012 |
| Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility D Majoor-Krakauer, R Ottman, WG Johnson, LP Rowland Neurology 44 (10), 1872-1872, 1994 | 136 | 1994 |
| LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ... The Lancet Neurology 17 (7), 597-608, 2018 | 122 | 2018 |
| TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations H Seelaar, H Jurgen Schelhaas, A Azmani, B Küsters, S Rosso, ... Brain 130 (5), 1375-1385, 2007 | 119 | 2007 |
| Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers M Michels, OII Soliman, J Phefferkorn, YM Hoedemaekers, MJ Kofflard, ... European heart journal 30 (21), 2593-2598, 2009 | 112 | 2009 |
| Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations M Michels, OII Soliman, MJ Kofflard, YM Hoedemaekers, D Dooijes, ... JACC: Cardiovascular Imaging 2 (1), 58-64, 2009 | 106 | 2009 |
| Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R E Van Herpen, SM Rosso, LA Serverijnen, H Yoshida, G Breedveld, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 104 | 2003 |
