עקוב אחר
Pierre LINDENBAUM
Pierre LINDENBAUM
Bioinformatician, UMR1087 INSERM Nantes France
כתובת אימייל מאומתת בדומיין univ-nantes.fr
כותרת
צוטט על ידי
צוטט על ידי
שנה
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
5772013
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
2182011
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
1782017
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
1482015
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
1301997
BioStar: An Online Question & Answer Resource for the Bioinformatics Community‏
IA aurence D. Parnell, Pierre Lindenbaum, Khader‏
PLoS Computational Biology 10, 2011‏
123*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
1102017
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
1062016
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
1042018
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
992010
JVarkit: java-based utilities for Bioinformatics‏
P Lindenbaum‏
figshare 10, m9, 2015‏
972015
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
932013
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
842015
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
742017
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
632016
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm‏
The American Journal of Human Genetics, 2018‏
582018
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
572012
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
572004
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
532019
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
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מאמרים 1–20