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Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species
Author / Creator:Calpena, Eduardo ; Palau, Francesc ; Espinós, Carmen ; Galindo, Máximo Ibo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-07, Vol.10 (7), p.e0134106
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The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway
Author / Creator:Calpena, Eduardo ; López del Amo, Víctor ; Chakraborty, Mouli ; Llamusí, Beatriz ; Artero, Rubén ; Espinós, Carmen ; Galindo, Máximo I.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2018-01, Vol.11 (1)
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Membrane Organization and Cell Fusion During Mating in Fission Yeast Requires Multipass Membrane Protein Prm1
Author / Creator:Curto, M-Ángeles ; Sharifmoghadam, Mohammad Reza ; Calpena, Eduardo ; De León, Nagore ; Hoya, Marta ; Doncel, Cristina ; Leatherwood, Janet ; Valdivieso, M-Henar
Publisher:United States: Genetics Society of America
Journal title:Genetics (Austin), 2014-04, Vol.196 (4), p.1059-1076
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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Author / Creator:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1567-1567
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CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca 2+ entry-stimulated respiration
Author / Creator:González-Sánchez, Paloma ; Pla-Martín, David ; Martínez-Valero, Paula ; Rueda, Carlos B ; Calpena, Eduardo ; Del Arco, Araceli ; Palau, Francesc ; Satrústegui, Jorgina
Publisher:England
Journal title:Scientific reports, 2017-02, Vol.7, p.42993
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Author / Creator:Pagnamenta, Alistair T. ; Camps, Carme ; Giacopuzzi, Edoardo ; Taylor, John M. ; Hashim, Mona ; Calpena, Eduardo ; Kaisaki, Pamela J. ; Hashimoto, Akiko ; Yu, Jing ; Sanders, Edward ; Schwessinger, Ron ; Hughes, Jim R. ; Lunter, Gerton ; Dreau, Helene ; Ferla, Matteo ; Lange, Lukas ; Kesim, Yesim ; Ragoussis, Vassilis ; Vavoulis, Dimitrios V. ; Allroggen, Holger ; Ansorge, Olaf ; Babbs, Christian ; Banka, Siddharth ; Baños-Piñero, Benito ; Beeson, David ; Ben-Ami, Tal ; Bennett, David L. ; Bento, Celeste ; Blair, Edward ; Brasch-Andersen, Charlotte ; Bull, Katherine R. ; Cario, Holger ; Cilliers, Deirdre ; Conti, Valerio ; Davies, E. Graham ; Dhalla, Fatima ; Dacal, Beatriz Diez ; Dong, Yin ; Dunford, James E. ; Guerrini, Renzo ; Harris, Adrian L. ; Hartley, Jane ; Hollander, Georg ; Javaid, Kassim ; Kane, Maureen ; Kelly, Deirdre ; Kelly, Dominic ; Knight, Samantha J. L. ; Kreins, Alexandra Y. ; Kvikstad, Erika M. ; Langman, Craig B. ; Lester, Tracy ; Lines, Kate E. ; Lord, Simon R. ; Lu, Xin ; Mansour, Sahar ; Manzur, Adnan ; Maroofian, Reza ; Marsden, Brian ; Mason, Joanne ; McGowan, Simon J. ; Mei, Davide ; Mlcochova, Hana ; Murakami, Yoshiko ; Németh, Andrea H. ; Okoli, Steven ; Ormondroyd, Elizabeth ; Ousager, Lilian Bomme ; Palace, Jacqueline ; Patel, Smita Y. ; Pentony, Melissa M. ; Pugh, Chris ; Rad, Aboulfazl ; Ramesh, Archana ; Riva, Simone G. ; Roberts, Irene ; Roy, Noémi ; Salminen, Outi ; Schilling, Kyleen D. ; Scott, Caroline ; Sen, Arjune ; Smith, Conrad ; Stevenson, Mark ; Thakker, Rajesh V. ; Twigg, Stephen R. F. ; Uhlig, Holm H. ; van Wijk, Richard ; Vona, Barbara ; Wall, Steven ; Wang, Jing ; Watkins, Hugh ; Zak, Jaroslav ; Schuh, Anna H. ; Kini, Usha ; Wilkie, Andrew O. M. ; Popitsch, Niko ; Taylor, Jenny C.
Publisher:England: Springer Science and Business Media LLC
Journal title:Genome Medicine, 2023-11, Vol.15 (1), p.94-25, Article 94
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ArticlesPeer ReviewedFull Text
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration
Author / Creator:González-Sánchez, Paloma ; Pla-Martín, David ; Martínez-Valero, Paula ; Rueda, Carlos B. ; Calpena, Eduardo ; del Arco, Araceli ; Palau, Francesc ; Satrústegui, Jorgina
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-02, Vol.7 (1), p.42993, Article 42993
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ArticlesPeer ReviewedFull Text
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Author / Creator:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Author / Creator:Hyder, Zerin ; Calpena, Eduardo ; Pei, Yang ; Tooze, Rebecca S. ; Brittain, Helen ; Twigg, Stephen R. F. ; Cilliers, Deirdre ; Morton, Jenny E. V. ; McCann, Emma ; Weber, Astrid ; Wilson, Louise C. ; Douglas, Andrew G. L. ; McGowan, Ruth ; Need, Anna ; Bond, Andrew ; Tavares, Ana Lisa Taylor ; Thomas, Ellen R. A. ; Hill, Susan L. ; Deans, Zandra C. ; Boardman-Pretty, Freya ; Caulfield, Mark ; Scott, Richard H. ; Wilkie, Andrew O. M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368
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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
Author / Creator:Calpena, Eduardo ; Wurmser, Maud ; McGowan, Simon J ; Atique, Rodrigo ; Bertola, Débora R ; Cunningham, Michael L ; Gustafson, Jonas A ; Johnson, David ; Morton, Jenny E V ; Passos-Bueno, Maria Rita ; Timberlake, Andrew T ; Lifton, Richard P ; Wall, Steven A ; Twigg, Stephen R F ; Maire, Pascal ; Wilkie, Andrew O M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-02, Vol.59 (2), p.165-169
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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
Author / Creator:Tooze, Rebecca S ; Calpena, Eduardo ; Twigg, Stephen R F ; D’Arco, Felice ; Wakeling, Emma L ; Wilkie, Andrew O M ; Ambrose, J C ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, CR ; Brittain, H ; Brown, M A ; Caulfield, M J ; Chan, G C ; Giess, A ; Griffin, J N ; Hamblin, A ; Henderson, S ; Hubbard, T J P ; Jackson, R ; Jones, L J ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, S E ; Leong, I U S ; Lopez, F J ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Mitchell, J ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, A C ; O‘Donovan, P ; Odhams, C A ; Patch, C ; Perez-Gil, D ; Pereira, M B ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, R H ; Siddiq, A ; Sieghart, A ; Smith, S C ; Sosinsky, A ; Stuckey, A ; Tanguy, M ; Taylor Tavares, A L ; Thomas, E R A ; Thompson, S R ; Tucci, A ; Welland, M J ; Williams, E ; Witkowska, K ; Wood, S M ; Zarowiecki, M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-07, Vol.60 (7), p.712-716
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Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Author / Creator:Tooze, Rebecca S. ; Calpena, Eduardo ; Weber, Astrid ; Wilson, Louise C. ; Twigg, Stephen R. F. ; Wilkie, Andrew O. M.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-02, Vol.14 (3), p.615
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SMAD6 variants incraniosynostosis: genotype and phenotype evaluation
Author / Creator:Calpena Eduardo ; Cuellar Araceli ; Bala Krithi ; Swagemakers Sigrid M A ; Koelling Nils ; McGowan, Simon J ; Phipps, Julie M ; Balasubramanian Meena ; Cunningham, Michael L ; Douzgou Sofia ; Lattanzi Wanda ; Morton, Jenny E ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A ; Twigg Stephen R F ; Mathijssen Irene M J ; Boardman-Pretty Freya ; Boardman-Pretty, F ; Boyadjiev, Simeon A ; Wilkie Andrew O M
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
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New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition
Author / Creator:Calpena, Eduardo ; Deshpande, Anup Arunrao ; Yap, Sufin ; Kumar, Akhilesh ; Manning, Nigel J. ; Bachhawat, Anand K. ; Espinós, Carmen
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2015-03, Vol.174 (3), p.407-411
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Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species: e0134106
Author / Creator:Calpena, Eduardo ; Palau, Francesc ; Espinos, Carmen ; Galindo, Maximo Ibo
Journal title:PloS one, 2015-07, Vol.10 (7)
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Mechanistic and Therapeutic Advances in Rare Skeletal Diseases Meeting, September 26–27, 2018: A Meeting in Affiliation With the American Society for Bone and Mineral Research (ASBMR)
Author / Creator:Lee, Brendan ; Pacifici, Maurizio
Publisher:Hoboken: Oxford University Press
Journal title:JBMR plus, 2019-03, Vol.3 (S2), p.S1-S11
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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
Author / Creator:Chatron, Nicolas ; Giannuzzi, Giuliana ; Rollat-Farnier, Pierre-Antoine ; Diguet, Flavie ; Porcu, Eleonora ; Yammine, Tony ; Uguen, Kevin ; Bellil, Zohra-Lydia ; Zillhardt, Julia Lauer ; Sorlin, Arthur ; Ader, Flavie ; Afenjar, Alexandra ; Andrieux, Joris ; Bardel, Claire ; Calpena, Eduardo ; Chantot-Bastaraud, Sandra ; Callier, Patrick ; Chelloug, Nora ; Chopin, Emilie ; Cordier, Marie-Pierre ; Dubourg, Christèle ; Faivre, Laurence ; Girard, Françoise ; Heide, Solveig ; Herenger, Yvan ; Jaillard, Sylvie ; Keren, Boris ; Knight, Samantha J. L. ; Lespinasse, James ; Lohmann, Laurence ; Marle, Nathalie ; Maroofian, Reza ; Masurel-Paulet, Alice ; Mathieu-Dramard, Michèle ; Metay, Corinne ; Pagnamenta, Alistair T. ; Portnoï, Marie-France ; Prieur, Fabienne ; Rio, Marlène ; Siffroi, Jean-Pierre ; Valence, Stéphanie ; Taylor, Jenny C. ; Wilkie, Andrew O. M. ; Edery, Patrick ; Reymond, Alexandre ; Sanlaville, Damien ; Schluth-Bolard, Caroline
Publisher:Cold Spring Harbor Laboratory
Journal title:bioRxiv, 2020-07
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Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

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The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

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Membrane Organization and Cell Fusion During Mating in Fission Yeast Requires Multipass Membrane Protein Prm1

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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

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CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca 2+ entry-stimulated respiration

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

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CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

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Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

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SMAD6 variants incraniosynostosis: genotype and phenotype evaluation

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New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

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Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species: e0134106

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Mechanistic and Therapeutic Advances in Rare Skeletal Diseases Meeting, September 26–27, 2018: A Meeting in Affiliation With the American Society for Bone and Mineral Research (ASBMR)

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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

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