检索结果 - Rocío Acuña‐Hidalgo

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  1. 1
    New insights into the generation and role of de novo mutations in health and disease

    New insights into the generation and role of de novo mutations in health and disease 由 Rocío Acuña‐Hidalgo, Joris A. Veltman, Alexander Hoischen

    出版 2016
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  2. 2
    Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

    Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life 由 Rocío Acuña‐Hidalgo, Hilal Sengül, Marloes Steehouwer, Maartje van de Vorst, Sita H. Vermeulen, Lambertus A. Kiemeney, Joris A. Veltman, Christian Gilissen, Alexander Hoischen

    出版 2017
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  3. 3
    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation 由 Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint, Maartje van de Vorst, Michele Pinelli, Joris A. Veltman, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    出版 2015
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  4. 4
    Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (<i>THRA</i>)

    Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (<i>THRA</i>) 由 Anna Tylki‐Szymańska, Rocío Acuña‐Hidalgo, Małgorzata Krajewska‐Walasek, Agnieszka Lecka-Ambroziak, Marloes Steehouwer, Christian Gilissen, Han G. Brunner, Agnieszka Jurecka, Agnieszka Różdżyńska‐Świątkowska, Alexander Hoischen, Krystyńa Chrzańowska

    出版 2015
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  5. 5
    Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations

    Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations 由 Katerina Kraft, Andreas Magg, Verena Heinrich, Christina Riemenschneider, Robert Schöpflin, Julia Markowski, Daniel M. Ibrahim, Rocío Acuña‐Hidalgo, Alexandra Despang, Guillaume Andrey, Lars Wittler, Bernd Timmermann, Martin Vingron, Stefan Mundlos

    出版 2019
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  6. 6
    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases 由 Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo, Martin A. Mensah, Björn Fischer‐Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina D. Pluym, Eunice Matoso, Sérgio B. Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos‐Bieleńska, Martin Vingron, Vera M. Kalscheuer, Fabiola Quintero‐Rivera, Malte Spielmann, Stefan Mundlos

    出版 2020
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  7. 7
    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease 由 Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer, Stefan H. Lelieveld, Stéphane Rousseau, Anne‐Claire Richard, Manon S. Oud, Florent Marguet, Annie Laquerrière, Christopher M. Morris, Johannes Attems, Colin Smith, Olaf Ansorge, Safa Al Sarraj, Thierry Frébourg, Dominique Campion, Didier Hannequin, David Wallon, Christian Gilissen, Patrick F. Chinnery, Joris A. Veltman, Alexander Hoischen

    出版 2018
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  8. 8
    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway 由 Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniené, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Nursel Elçioğlu, Siavash Ghaderi‐Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia J. Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas Janecke, Alexander Hoischen, Martin Zenker

    出版 2014
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    Artigo
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  9. 9
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies 由 Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover‐Fong, Aida Telegrafi, Anne Destrèe, Robert Śmigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoğlu, Elisabetta Lapi, Maria Luisa Giovannucci Uzielli, Mariana Aracena, Banu Nur, Ercan Mıhçı, Lília Maria de Azevedo Moreira, Viviane Borges Ferreira, Dafne Dain Gandelman Horovitz, Kátia M. Rocha, Aleksandra Jezela‐Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaëlle André, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B.A. de Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W.M. van Bon

    出版 2017
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    Artigo
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  10. 10
    3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

    3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma 由 Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana S. Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocío Acuña‐Hidalgo, Derek A. Reid, Kristin Sikkink, Monika Mauermann, Edwin F. Juarez, Anne Jenseit, James Robinson, Kristian W. Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G. Coufal, Michael L. Levy, Denise Malicki, Charlotte A. Hobbs, Stephen F. Kingsmore, Shareef Nahas, Matija Snuderl, John R. Crawford, Robert J. Wechsler‐Reya, Tom B. Davidson, Jennifer Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony D. Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin Kumar, Michael D. Taylor, Jeremy N. Rich, Frank Buchholz, Jill P. Mesirov, Stefan M. Pfister, Ferhat Ay, Jesse R. Dixon, Marcel Kool, Lukas Chávez

    出版 2023
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