| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death V Connie R Bezzina, Julien Barc, Yuka Mizusawa Nature Genetics, 2013 | 570 | 2013 |
| Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis B Isidor, P Lindenbaum, O Pichon, S Bézieau, C Dina, S Jacquemont, ... Nature genetics 43 (4), 306-308, 2011 | 218 | 2011 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 169 | 2017 |
| Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome S Le Scouarnec, M Karakachoff, JB Gourraud, P Lindenbaum, S Bonnaud, ... Human molecular genetics 24 (10), 2757-2763, 2015 | 149 | 2015 |
| In vivo and in vitro phosphorylation of rotavirus NSP5 correlates with its localization in viroplasms D Poncet, P Lindenbaum, R L'Haridon, J Cohen Journal of Virology 71 (1), 34-41, 1997 | 129 | 1997 |
| BioStar: An Online Question & Answer Resource for the Bioinformatics Community IA aurence D. Parnell, Pierre Lindenbaum, Khader PLoS Computational Biology 10, 2011 | 124* | 2011 |
| Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians S Guey, M Kraemer, D Hervé, T Ludwig, M Kossorotoff, F Bergametti, ... European Journal of Human Genetics 25 (8), 995-1003, 2017 | 111 | 2017 |
| Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy E Colin, J Daniel, A Ziegler, J Wakim, A Scrivo, TB Haack, S Khiati, ... The American Journal of Human Genetics 99 (3), 695-703, 2016 | 105 | 2016 |
| 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 | 104 | 2018 |
| The Gene Wiki: community intelligence applied to human gene annotation JW Huss III, P Lindenbaum, M Martone, D Roberts, A Pizarro, F Valafar, ... Nucleic acids research 38 (suppl_1), D633-D639, 2010 | 100 | 2010 |
| JVarkit: java-based utilities for Bioinformatics P Lindenbaum figshare 10, m9, 2015 | 96 | 2015 |
| Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis S Mercier, S Küry, G Shaboodien, DT Houniet, NP Khumalo, ... The American Journal of Human Genetics 93 (6), 1100-1107, 2013 | 95 | 2013 |
| Advanced characterization of DNA molecules in rAAV vector preparations by single-stranded virus next-generation sequencing E Lecomte, B Tournaire, B Cogné, JB Dupont, P Lindenbaum, ... Molecular Therapy-Nucleic Acids 4, 2015 | 83 | 2015 |
| Accurate identification and quantification of DNA species by next-generation sequencing in adeno-associated viral vectors produced in insect cells M Penaud-Budloo, E Lecomte, A Guy-Duché, S Saleun, A Roulet, ... Human gene therapy methods 28 (3), 148-162, 2017 | 73 | 2017 |
| Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I X Daumy, MY Amarouch, P Lindenbaum, S Bonnaud, E Charpentier, ... International journal of cardiology 207, 349-358, 2016 | 63 | 2016 |
| MASS SPECTROMETRY-BASED IDENTIFICATION OF NATIVE CARDIAC Nav1. 5 CHANNEL ALPHA SUBUNIT PHOSPHORYLATION SITES C Marionneau, CF Lichti, P Lindenbaum, F Charpentier, JM Nerbonne, ... Journal of Proteome Research, 2012 | 59 | 2012 |
| Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm The American Journal of Human Genetics, 2018 | 58 | 2018 |
| RoXaN, a novel cellular protein containing TPR, LD, and zinc finger motifs, forms a ternary complex with eukaryotic initiation factor 4G and rotavirus NSP3 D Vitour, P Lindenbaum, P Vende, MM Becker, D Poncet Journal of virology 78 (8), 3851-3862, 2004 | 57 | 2004 |
| De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability B Isidor, S Küry, JA Rosenfeld, T Besnard, S Schmitt, S Joss, SJ Davies, ... Human Mutation 37 (4), 354-358, 2016 | 54 | 2016 |
| Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly A Kim, C Savary, C Dubourg, W Carré, C Mouden, H Hamdi-Roze, ... Brain 142 (1), 35-49, 2019 | 51 | 2019 |
Christian DinaVerified email at univ-nantes.fr
