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Calpena, E
198
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Online (198)
Mediatypes
Articles (Online) (41)
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1
The EGR2 gene is involved in axonal Charcot−Marie−Tooth dis..:
Sevilla, T.
;
Sivera, R.
;
Martínez‐Rubio, D.
...
European Journal of Neurology. 22 (2015) 12 - p. 1548-1555 , 2015
Link:
https://doi.org/10.1111/..
?
2
A novel locus for a hereditary recurrent neuropathy on chro..:
Calpena, E.
;
Martínez-Rubio, D.
;
Arpa, J.
...
Neuromuscular Disorders. 24 (2014) 8 - p. 660-665 , 2014
Link:
https://doi.org/10.1016/..
?
3
Pathogenic variants in the paired-related homeobox 1 gene (..:
Tooze, R. S
;
Miller, K. A
;
Swagemakers, S. M. A
...
10.1016/j.gim.2023.100883. , 2024
Link:
https://hdl.handle.net/2..
?
4
Recurrent de novo missense variants across multiple histone..:
Tessadori, F
;
Duran, K
;
Knapp, K
...
10.1016/j.ajhg.2022.02.003. , 2024
Link:
https://hdl.handle.net/2..
?
5
The impact of inversions across 33,924 families with rare d..:
Pagnamenta, A.T
;
Yu, J
;
Walker, S
...
https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdf. , 2024
Link:
https://eprints.whiteros..
?
6
Structural and non-coding variants increase the diagnostic ..:
Pagnamenta, AT
;
Camps, C
;
Giacopuzzi, E
...
doi:10.1186/s13073-023-01240-0. , 2023
Link:
https://doi.org/10.1186/..
?
7
Dissection of contiguous gene effects for deletions around ..:
Calpena, E
;
Mcgowan, S. J
;
Kelly, F. B
...
10.1002/humu.24213. , 2023
Link:
https://hdl.handle.net/2..
?
8
Structural and non-coding variants increase the diagnostic ..:
Pagnamenta, AT
;
Camps, C
;
Giacopuzzi, E
...
https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdf. , 2023
Link:
https://discovery.ucl.ac..
?
9
Case report: A third variant in the 5′ UTR of TWIST1 create..:
Diaz-Gonzalez, F
;
Sacedo-Gutiérrez, JM
;
Twigg, SRF
...
doi:10.3389/fgene.2022.1089417. , 2023
Link:
https://doi.org/10.3389/..
?
10
Structural and non-coding variants increase the diagnostic ..:
Pagnamenta, AT
;
Camps, C
;
Giacopuzzi, E
...
https://openaccess.sgul.ac.uk/id/eprint/116180/1/s13073-023-01240-0.pdf. , 2023
Link:
https://openaccess.sgul...
?
11
Pathogenic variants in the paired-related homeobox 1 gene (..:
Tooze, RS
;
Miller, KA
;
Swagemakers, SMA
...
doi:10.1016/j.gim.2023.100883. , 2023
Link:
https://doi.org/10.1016/..
?
12
Review of recurrently mutated genes in craniosynostosis sup..:
Tooze, RS
;
Calpena, E
;
Weber, A
...
doi:10.3390/genes14030615. , 2023
Link:
https://doi.org/10.3390/..
?
13
Pathogenic variants in the paired-related homeobox 1 gene (..:
Tooze, R. S
;
Miller, K. A
;
Swagemakers, S. M. A
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100883. , 2023
Link:
https://hal.univ-lille.f..
?
14
Craniosynostosis, inner ear, and renal anomalies in a child..:
Tooze, RS
;
Calpena, E
;
Twigg, SRF
...
doi:10.1136/jmg-2022-108946. , 2022
Link:
https://doi.org/10.1136/..
?
15
Recurrent de novo missense variants across multiple histone..:
Tessadori, F
;
Duran, K
;
Knapp, K
...
doi:10.1016/j.ajhg.2022.02.003. , 2022
Link:
https://doi.org/10.1016/..
1-15