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| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 987 | 2015 |
| The human transcriptome map: clustering of highly expressed genes in chromosomal domains H Caron, B Schaik, M Mee, F Baas, G Riggins, P Sluis, MC Hermus, ... Science 291 (5507), 1289-1292, 2001 | 964 | 2001 |
| The human multidrug resistance-associated protein MRP is a plasma membrane drug-efflux pump GJ Zaman, MJ Flens, MR Van Leusden, M De Haas, HS Mülder, ... Proceedings of the National Academy of Sciences 91 (19), 8822-8826, 1994 | 887 | 1994 |
| MRP3, an organic anion transporter able to transport anti-cancer drugs M Kool, M Van Der Linden, M de Haas, GL Scheffer, JML De Vree, ... Proceedings of the National Academy of Sciences 96 (12), 6914-6919, 1999 | 823 | 1999 |
| Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) A Muchir, G Bonne, AJ van der Kooi, M van Meegen, F Baas, PA Bolhuis, ... Human molecular genetics 9 (9), 1453-1459, 2000 | 755 | 2000 |
| Duplication in chromosome 17p11. 2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) P Raeymaekers, V Timmerman, E Nelis, P De Jonghe, JE Hoogenduk, ... Neuromuscular disorders 1 (2), 93-97, 1991 | 741 | 1991 |
| A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin‐Johnson syndrome CC Paulusma, M Kool, PJ Bosma, GL Scheffer, F ter Borg, RJ Scheper, ... Hepatology 25 (6), 1539-1542, 1997 | 699 | 1997 |
| Mutations in ABCC6 cause pseudoxanthoma elasticum AAB Bergen, AS Plomp, EJ Schuurman, S Terry, M Breuning, ... Nature genetics 25 (2), 228, 2000 | 681 | 2000 |
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| The unfolded protein response is activated in Alzheimer’s disease JJM Hoozemans, R Veerhuis, ES Van Haastert, JM Rozemuller, F Baas, ... Acta neuropathologica 110, 165-172, 2005 | 629 | 2005 |
| Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism JC Moreno, H Bikker, MJE Kempers, ASP Van Trotsenburg, F Baas, ... New England Journal of Medicine 347 (2), 95-102, 2002 | 615 | 2002 |
| Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs J Wijnholds, CAAM Mol, L van Deemter, M de Haas, GL Scheffer, F Baas, ... Proceedings of the National Academy of Sciences 97 (13), 7476-7481, 2000 | 596 | 2000 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 577 | 2018 |
| Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor α1 L Wikström, C Johansson, C Saltó, C Barlow, AC Barros, F Baas, ... The EMBO journal 17 (2), 455-461, 1998 | 567 | 1998 |
| Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA. R Evers, M Kool, L van Deemter, H Janssen, J Calafat, LCJM Oomen, ... The Journal of clinical investigation 101 (7), 1310-1319, 1998 | 564 | 1998 |
| Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A LJ Valentijn, F Baas, RA Wolterman, JE Hoogendijk, NHA van den Bosch, ... Nature genetics 2 (4), 288-291, 1992 | 504 | 1992 |
| Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2–21.3 C Vance, A Al-Chalabi, D Ruddy, BN Smith, X Hu, J Sreedharan, ... Brain 129 (4), 868-876, 2006 | 495 | 2006 |
| Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells JCT Van Deutekom, M Bremmer-Bout, AAM Janson, IB Ginjaar, F Baas, ... Human molecular genetics 10 (15), 1547-1554, 2001 | 490 | 2001 |
| N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom L Kalaydjieva, D Gresham, R Gooding, L Heather, F Baas, R De Jonge, ... The American Journal of Human Genetics 67 (1), 47-58, 2000 | 478 | 2000 |
Antoine van KampenProfessor of Medical Bioinformatics, University of AmsterdamGeverifieerd e-mailadres voor amc.uva.nl
