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Cohen, Enzo
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1

Genome-wide variant calling in reanalysis of exome sequenci..:

de Boer, Elke ; Yaldiz, Burcu ; Denommé-Pichon, Anne-Sophie...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104402 , 2022
Link: https://doi.org/10.1016/..
 
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2

The 2022 version of the gene table of neuromuscular disorde..:

Cohen, Enzo ; Bonne, Gisèle ; Rivier, François.
Neuromuscular Disorders.  31 (2021)  12 - p. 1313-1357 , 2021
Link: https://doi.org/10.1016/..
 
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3

Neuropathie motrice et expansion ancestrale dans le gène VW..:

Cohen, Enzo
Les Cahiers de Myologie.  , 2021
Link: https://doi.org/10.1051/..
 
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4

Preclinical Advances of Therapies for Laminopathies:

Benarroch, Louise ; Cohen, Enzo ; Atalaia, Antonio...
Journal of Clinical Medicine.  10 (2021)  21 - p. 4834 , 2021
Link: https://doi.org/10.3390/..
 
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5

Correction to: Solving patients with rare diseases through ..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
European Journal of Human Genetics.  29 (2021)  9 - p. 1466-1469 , 2021
Link: https://doi.org/10.1038/..
 
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6

Correction: A MT-TL1 variant identified by whole exome sequ..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics.  29 (2021)  9 - p. 1470-1471 , 2021
Link: https://doi.org/10.1038/..
 
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7

A MT-TL1 variant identified by whole exome sequencing in an..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics.  29 (2021)  9 - p. 1359-1368 , 2021
Link: https://doi.org/10.1038/..
 
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8

Solving patients with rare diseases through programmatic re..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
European Journal of Human Genetics.  29 (2021)  9 - p. 1337-1347 , 2021
Link: https://doi.org/10.1038/..
 
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9

Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, Ana ; Pyle, Angela ; Griffin, Helen...
European Journal of Human Genetics.  29 (2021)  9 - p. 1348-1353 , 2021
Link: https://doi.org/10.1038/..
 
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10

Contribution of LHX4 Mutations to Pituitary Deficits in a C..:

Cohen, Enzo ; Maghnie, Mohamad ; Collot, Nathalie...
The Journal of Clinical Endocrinology & Metabolism.  102 (2016)  1 - p. 290-301 , 2016
Link: https://doi.org/10.1210/..
 
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11

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018.  , 2023
Link: http://orbilu.uni.lu/han..
 
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12

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5.  , 2023
Link: http://orbilu.uni.lu/han..
 
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13

The 2022 version of the gene table of neuromuscular disorde..:

Cohen, Enzo ; Bonne, Gisèle ; Rivier, Francois.
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.nmd.2021.11.004.  , 2021
Link: https://hal.science/hal-..
 
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14

Solve-RD: systematic pan-European data sharing and collabor..:

Zurek, Birte ; Ellwanger, Kornelia ; Ossowski, Stephan...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34075208.  , 2021
Link: https://pub.dzne.de/reco..
 
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15

Solving unsolved rare neurological diseases—a Solve-RD view..:

Timmann, Dagmar ; Erasmus, Corrie E ; Reichbauer, Jennifer...
https://repository.publisso.de/resource/frl:6442786.  , 2021
Link: https://repository.publi..
 
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