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Pierre LINDENBAUM
Pierre LINDENBAUM
Bioinformatician, UMR1087 INSERM Nantes France
Geverifieerd e-mailadres voor univ-nantes.fr
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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
5202013
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
2072011
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
1382017
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
1332015
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
1281997
BioStar: An Online Question & Answer Resource for the Bioinformatics Community
IA aurence D. Parnell, Pierre Lindenbaum, Khader
PLoS Computational Biology 10, 2011
111*2011
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
972010
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
882016
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
872018
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
872013
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
832017
JVarkit: java-based utilities for Bioinformatics
P Lindenbaum
figshare 10, m9, 2015
822015
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
712015
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
572017
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
552016
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
552012
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
The American Journal of Human Genetics, 2018
532018
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
522004
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
512016
The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologies
T Katayama, MD Wilkinson, G Micklem, S Kawashima, A Yamaguchi, ...
Journal of biomedical semantics 4, 1-17, 2013
472013
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Artikelen 1–20