Хайлтын үр дүнгүүд - Eduardo Calpena

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  1. 1
    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling -н Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, Luca Bartesaghi, Fanny Schüpfer, Jean‐Jacques Médard, Fabienne Maurer, J. Beckmann, Jan Senderek, Francesc Palau, Carmen Espinós, Roman Chrast

    Хэвлэсэн 2013
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    Artigo
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  2. 2
    Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disorders

    Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disorders -н Eduardo Calpena, Maud Wurmser, Simon J. McGowan, Rodrigo Atique, Débora Romeo Bertola, Michael L. Cunningham, Jonas A. Gustafson, David Johnson, Jenny E.V. Morton, Maria Rita Passos‐Bueno, Andrew T. Timberlake, Richard P. Lifton, Steven A. Wall, Stephen R.F. Twigg, Pascal Maire, Andrew O.M. Wilkie

    Хэвлэсэн 2021
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  3. 3
    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome -н Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B. Ekici, Marion Gérard, Nuria C. Bramswig, Beate Albrecht, Jill Clayton‐Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T. Cho, Christian T. Thiel, Hermann‐Josef Lüdecke, Tim M. Strom, Eduardo Calpena, Andrew O.M. Wilkie, Dagmar Wieczorek, Felix B. Engel, André Reis

    Хэвлэсэн 2018
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  4. 4
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation -н Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    Хэвлэсэн 2020
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  5. 5
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder -н Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    Хэвлэсэн 2019
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    Artigo
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  6. 6
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder -н Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Хэвлэсэн 2018
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  7. 7
    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development -н Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika Erwin, Karen W. Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna Geus, Louisa Kalsner, Arthur Sorlin, Ange‐Line Bruel, David A. Koolen, Melissa K. Gabriel, Mari Rossi, David Fitzpatrick, Andrew O.M. Wilkie, Eduardo Calpena, David Johnson, Alice S. Brooks, Marjon A. van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A. Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G. Langley, Aida Telegrafi, Amy Blevins, Jessica F. Hoffman, María J. Guillen Sacoto, Jane Juusola, Kristin G. Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra

    Хэвлэсэн 2021
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  8. 8
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome -н Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Хэвлэсэн 2022
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  9. 9
    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project -н Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carlos Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Hussein, Sarah Lindsay, Fiona Lalloo, Benito Banos‐Pinero, David M. Evans, Lucy Mallin, Adrian J. Waite, Julie Evans, Andrew G. Newman, Zoe Allen, Cristina Perez‐Becerril, Gavin Ryan, Rachel Hart, John‐Stephen Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw‐Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily E. Anderson, Rajesh Madhu, Helen V. Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise C. Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig, Jenny C. Taylor

    Хэвлэсэн 2024
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  10. 10
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder -н Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    Хэвлэсэн 2018
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  11. 11
    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases -н Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schweßinger, Jim R. Hughes, Gerton Lunter, Hélène Dreau, Matteo P. Ferla, Lukas Lange, Yeşim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos‐Pinero, David Beeson, Tal Ben‐Ami, David Bennett, Celeste Bento, Edward Blair, Charlotte Brasch‐Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Dong Yin, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg A. Holländer, M K Javaid, Maureen A. Kane, Déirdre Kelly, Dominic F. Kelly, Samantha J.L. Knight, Alexandra Y. Kreins, Erika Kvikstad, Craig B. Langman, Tracy Lester, Kate E Lines, Simon Lord, Xin Lü, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian D. Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlčochová, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Christopher W. Pugh, Abolfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R.F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven A. Wall, Jing Wang, Hugh Watkins, Jaroslav Žák, Anna Schuh, Usha Kini, Andrew O.M. Wilkie, Niko Popitsch, Jenny C. Taylor

    Хэвлэсэн 2023
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