Search Results - Anna Chassevent

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  1. 1
    A genome-wide DNA methylation signature for SETD1B-related syndrome

    A genome-wide DNA methylation signature for SETD1B-related syndrome by I. Krzyzewska, Saskia M. Maas, Peter Henneman, K. Lip, A. Venema, Kristin Barañano, Anna Chassevent, Erfan Aref‐Eshghi, Anthonie J. van Essen, Tokiko Fukuda, Hiroko Ikeda, M. Jacquemont, H.-G. Kim, Audrey Labalme, M. E. Suzanne Lewis, Gaëtan Lesca, Irene Madrigal, Sonal Mahida, Naomichi Matsumoto, Raquel Rabionet, Evica Rajcan‐Separovic, Ying Qiao, Bekim Sadiković, Hirotomo Saitsu, David A. Sweetser, Mariëlle Alders, Marcel M.A.M. Mannens

    Published 2019
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  2. 2
    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity by Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, C. R. Weber, Carlos A. Bacino, Kristin Barañano, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin‐Robinet, Marjan M. Weiss, Gladys Zapata, Petra Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

    Published 2020
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  3. 3
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders by Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Published 2021
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  4. 4
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies by Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Published 2019
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  5. 5
    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications

    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications by Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury‐Ecob, Sian Ellard, Hana Lango Allen, Emily Yu, Ramil R. Noche, Suzi Walker, Stephen W. Scherer, Sonal Mahida, Christopher M. Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier‐Veber, François Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M. Keppler‐Noreuil, Lucy Drayson, Kristin Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frédéric Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay B. Henderson, Lauren Brady, Mark A. Tarnopolsky, Matthew N. Bainbridge, Jennifer Friedman, Yline Capri, Larissa Sampaio de Athayde, Fernando Kok, Juliana Gurgel‐Giannetti, Luiza Ramos, Susan Blaser, James J. Dowling, Rosanna Weksberg

    Published 2022
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  6. 6
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction by Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    Published 2020
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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 by 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

    Published 2021
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  8. 8
    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations by Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, Øyvind L. Busk, Philippe M. Campeau, Valeria Capra, Colleen M. Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton‐Smith, Michael J. Bamshad, Dawn Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul‐Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly S. McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda Openshaw, Janice C. Palumbos, Aditi Shah Parikh, Yezmin Perilla‐Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey‐Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung‐Chien Hsieh, Keri Ramsey, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Bert B.A. de Vries, François Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

    Published 2024
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