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Lindenbaum, Pierre
259  results:
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1

Spontaneous Akt2 deficiency in a colony of NOD mice exhibit..:

Hervé, Julie ; Haurogné, Karine ; Allard, Marie...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

TAD boundary deletion causes PITX2-related cardiac electric..:

Baudic, Manon ; Murata, Hiroshige ; Bosada, Fernanda M....
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

How local reference panels improve imputation in French pop..:

Herzig, Anthony F. ; Velo‐Suárez, Lourdes ; Campion, Dominique...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

Generation of a patient-specific induced pluripotent stem c..:

Geryk, Michelle ; Canac, Robin ; Forest, Virginie...
Stem Cell Research.  77 (2024)  - p. 103396 , 2024
Link: https://doi.org/10.1016/..
 
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5

Variations in the poly-histidine repeat motif of HOXA1 cont..:

Odelin, Gaëlle ; Faucherre, Adèle ; Marchese, Damien...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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6

Non-coding deletion induces 3D chromatin remodelling and PI..:

Baudic, Manon ; Murata, Hiroshigue ; Bosada, Fernanda...
Archives of Cardiovascular Diseases Supplements.  14 (2022)  2 - p. 209 , 2022
Link: https://doi.org/10.1016/..
 
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7

Identification of a Gain-of-FunctionLIPCVariant as a Novel ..:

Dijk, Wieneke ; Di Filippo, Mathilde ; Kooijman, Sander...
Circulation.  146 (2022)  10 - p. 724-739 , 2022
Link: https://doi.org/10.1161/..
 
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8

Burden of rare variants in arrhythmogenic cardiomyopathy wi..:

Goudal, Adeline ; Karakachoff, Matilde ; Lindenbaum, Pierre...
Human Mutation.  43 (2022)  9 - p. 1333-1342 , 2022
Link: https://doi.org/10.1002/..
 
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9

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A ..:

Vanhoye, Xavier ; Janin, Alexandre ; Caillaud, Amandine...
International Journal of Molecular Sciences.  23 (2022)  8 - p. 4281 , 2022
Link: https://doi.org/10.3390/..
 
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10

Moment estimators of relatedness from low-depth whole-genom..:

Herzig, Anthony F. ; Ciullo, M. ; Deleuze, Jean-François...
BMC Bioinformatics.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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11

Identification of mobile retrocopies during genetic testing..:

Chatron, Nicolas ; Cassinari, Kevin ; Quenez, Olivier...
Human Mutation.  40 (2019)  11 - p. 1993-2000 , 2019
Link: https://doi.org/10.1002/..
 
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12

Fryns type mesomelic dysplasia of the upper limbs caused by..:

Le Caignec, Cédric ; Pichon, Olivier ; Briand, Annaig...
European Journal of Human Genetics.  28 (2019)  3 - p. 324-332 , 2019
Link: https://doi.org/10.1038/..
 
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13

Integrated clinical and omics approach to rare diseases: no..:

Kim, Artem ; Savary, Clara ; Dubourg, Christèle...
Brain.  142 (2018)  1 - p. 35-49 , 2018
Link: https://doi.org/10.1093/..
 
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14

bioalcidae, samjs and vcffilterjs: object-oriented formatte..:

Lindenbaum, Pierre ; Redon, Richard ; Hancock, John
Bioinformatics.  34 (2017)  7 - p. 1224-1225 , 2017
Link: https://doi.org/10.1093/..
 
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15

De Novo Truncating Mutations in the Kinetochore-Microtubule..:

Isidor, Bertrand ; Küry, Sébastien ; Rosenfeld, Jill A....
Human Mutation.  37 (2016)  4 - p. 354-358 , 2016
Link: https://doi.org/10.1002/..
 
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