| A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ... Nature 480 (7375), 94-98, 2011 | 597 | 2011 |
| High-dose ifosfamide: circumvention of resistance to standard-dose ifosfamide in advanced soft tissue sarcomas. A Le Cesne, E Antoine, M Spielmann, T Le Chevalier, E Brain, ... Journal of Clinical Oncology 13 (7), 1600-1608, 1995 | 276 | 1995 |
| A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 J Kaplan, S Gerber, D Larget-Piet, JM Rozet, H Dollfus, JL Dufier, S Odent, ... Nature genetics 5 (3), 308-311, 1993 | 226 | 1993 |
| Simple sequence repeat polymorphism within the p53 gene. V Lazar, F Hazard, F Bertin, N Janin, D Bellet, B Bressac Oncogene 8 (6), 1703-1705, 1993 | 224 | 1993 |
| Analysis of p53 antibodies in patients with various cancers define B-cell epitopes of human p53: distribution on primary structure and exposure on protein surface R Lubin, B Schlichtholz, D Bengoufa, G Zalcman, J Tredaniel, A Hirsch, ... Cancer research 53 (24), 5872-5876, 1993 | 218 | 1993 |
| Cancer risk in heterozygotes for ataxia‐telangiectasia B Geoffroy‐Perez, N Janin, K Ossian, A Laugé, MF Croquette, C Griscelli, ... International journal of cancer 93 (2), 288-293, 2001 | 205 | 2001 |
| The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript A Vega, B Campos, B Bressac‐de‐Paillerets, PM Bond, N Janin, ... Human mutation 17 (6), 520-521, 2001 | 142 | 2001 |
| Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families N Janin, N Andrieu, K Ossian, A Lauge, MF Croquette, C Griscelli, ... British journal of cancer 80 (7), 1042-1045, 1999 | 142 | 1999 |
| Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer D Torchard, C Blanchet-Bardon, O Serova, L Langbein, S Narod, N Janin, ... Nature genetics 6 (1), 106-110, 1994 | 130 | 1994 |
| Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma B Gardie, A Remenieras, D Kattygnarath, J Bombled, S Lefèvre, ... Journal of medical genetics 48 (4), 226-234, 2011 | 129 | 2011 |
| Primary proliferative T cell response to wild‐type p53 protein in patients with breast cancer AF Tilkin, R Lubin, T Soussi, V Lazar, N Janin, MC Mathieu, I Lefrère, ... European journal of immunology 25 (6), 1765-1769, 1995 | 125 | 1995 |
| Circulating anti-p53 antibodies in esophageal cancer patients are found predominantly in individuals with p53 core domain mutations in their tumors MC von Brevern, MC Hollstein, HM Cawley, VMG De Benedetti, ... Cancer research 56 (21), 4917-4921, 1996 | 102 | 1996 |
| Cancer predisposing missense and protein truncating BARD1 mutations in non‐BRCA1 or BRCA2 breast cancer families S De Brakeleer, J De Grève, R Loris, N Janin, W Lissens, E Sermijn, ... Human mutation 31 (3), E1175-E1185, 2010 | 100 | 2010 |
| Deregulated apoptosis in ataxia telangiectasia: association with clinical stigmata and radiosensitivity E Duchaud, A Ridet, D Stoppa-Lyonnet, N Janin, E Moustacchi, F Rosselli Cancer Research 56 (6), 1400-1404, 1996 | 99 | 1996 |
| Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease M Lenglet, F Robriquet, K Schwarz, C Camps, A Couturier, D Hoogewijs, ... Blood, The Journal of the American Society of Hematology 132 (5), 469-483, 2018 | 94 | 2018 |
| Truncation at conserved terminal regions of BRCA1 protein is associated with highly proliferating hereditary breast cancers H Sobol, D Stoppa-Lyonnet, B Bressac-de-Paillerets, JP Peyrat, ... Cancer research 56 (14), 3216-3219, 1996 | 86 | 1996 |
| Cancer risk according to type and location of ATM mutation in ataxia‐telangiectasia families E Cavaciuti, A Lauge, N Janin, K Ossian, J Hall, D Stoppa‐Lyonnet, ... Genes, Chromosomes and Cancer 42 (1), 1-9, 2005 | 75 | 2005 |
| The BRCA1 c. 5096G> A p. Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA … S Moghadasi, HD Meeks, MPG Vreeswijk, LAM Janssen, Å Borg, ... Journal of medical genetics 55 (1), 15-20, 2018 | 73 | 2018 |
| BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma C Monnerat, A Chompret, C Kannengiesser, MF Avril, N Janin, A Spatz, ... Familial cancer 6, 453-461, 2007 | 55 | 2007 |
| Novel SACS mutation in a Belgian family with sacsin-related ataxia Y Ouyang, K Segers, O Bouquiaux, FC Wang, N Janin, C Andris, ... Journal of the neurological sciences 264 (1-2), 73-76, 2008 | 50 | 2008 |
