檢索結果 - Pascal Joset

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  1. 1
    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies 由 Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch

    出版 2023
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  2. 2
    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency 由 Lucia Abela, Ronen Spiegel, Lisa M. Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas L. Simmons

    出版 2017
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  3. 3
    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability 由 Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello‐Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch

    出版 2013
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  4. 4
    Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

    Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract 由 Delia Rechsteiner, Lydia S. Issler, Samuel Koller, Elena Lang, Luzy Bähr, Silke Feil, Christoph M. Rüegger, Raimund Kottke, Sandra P. Toelle, Noëmi Zweifel, Katharina Steindl, Pascal Joset, Markus Zweier, Aude‐Annick Suter, Laura Gogoll, Cordula Haas, Wolfgang Berger, Christina Gerth‐Kahlert

    出版 2021
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  5. 5
    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons

    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons 由 Reza Asadollahi, Igor Delvendahl, Roman Muff, Ge Tan, Daymé González Rodríguez, Serap Turan, Marco Russo, Beatrice Oneda, Pascal Joset, Paranchai Boonsawat, Rahim Masood, Martina Mocera, Ivan Ivanovski, Alessandra Baumer, Ruxandra Bachmann‐Gagescu, Ralph Schlapbach, Hubert Rehrauer, Katharina Steindl, Anaïs Begemann, André Reis, Jürgen Winkler, Beate Winner, Martin Müller, Anita Rauch

    出版 2023
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  6. 6
    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study 由 Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, T. Iff, Thomas Schmitt‐Mechelke, K. Otten, Annette Hackenberg, Marie‐Claude Addor, Andrea Klein, Silvia Azzarello‐Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch

    出版 2018
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  7. 7
    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 由 Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello‐Burri, Frenny Sheth, Chaitanya Datar, Ishwar C. Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann‐Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro‐Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn A. Lincoln, Lance H. Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloès, Anselm H. C. Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar G. Jenni, Reza Asadollahi, Anita Rauch

    出版 2019
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  8. 8
    Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

    Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype 由 Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang‐Muritano, Conny M.A. van Ravenswaaij‐Arts, Marwan Shinawi, Marisa V. Andrews, Tania Attié‐Bitach, Isabelle Maystadt, Newell Belnap, Valérie Benoît, Geoffroy Delplancq, Bert B.A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen Mourmans, Katrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica H. Wojcik, Markus Zweier, Or Gozani, Anita Rauch

    出版 2021
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  9. 9
    Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

    Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions 由 Tiong Yang Tan, Claudia Gonzaga‐Jauregui, Elizabeth Bhoj, Kevin A. Strauss, Karlla W. Brigatti, Erik G. Puffenberger, Dong Li, Liqin Xie, Nanditha Das, Ioanna Skubas, Ron A. Deckelbaum, Virginia C. Hughes, Susannah Brydges, Sarah Hatsell, Chia-Jen Siao, Melissa G. Dominguez, Aris N. Economides, John D. Overton, Valerie Mayne, Peter Simm, Bryn Jones, Stefanie Eggers, Gwenaël Le Guyader, Fanny Pelluard, Tobias B. Haack, Marc Sturm, Angelika Rieß, Stephan Waldmueller, Michael Hofbeck, Katharina Steindl, Pascal Joset, Anita Rauch, Hákon Hákonarson, Naomi L. Baker, Peter G. Farlie

    出版 2017
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  10. 10
    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures 由 Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T. Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester Brown, Maryline Carneiro, Jiani Chen, Gregory M. Cooper, Candice R. Finnila, María J. Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaëtan Lesca, Gloria Leszinski, John McDermott, Meira R. Meltzer, Kristin G. Monaghan, Roya Mostafavi, Katrin Õunap, Barbara Plecko, Zöe Powis, Gabriela Purcarin, Tiia Reimand, Korbinian M. Riedhammer, John M. Schreiber, Deepa Sirsi, Klaas J. Wierenga, Monica H. Wojcik, Sorina Mihaela Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch

    出版 2019
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  11. 11
    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 由 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

    出版 2018
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  12. 12
    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome 由 Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, Alicia Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas‐Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina Powell‐Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf A. Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva Maria Christina Schwaibold, Velibor Tasić, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra

    出版 2020
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  13. 13
    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 由 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

    出版 2020
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  14. 14
    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency 由 Stefano Vavassori, Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset, Christopher Fraser, Seraina Prader, Xianfei Gao, Luise A. Schuch, Matias Wagner, Julia Hoefele, Maria Elena Maccari, Ying Zhu, George Elakis, Michael T. Gabbett, Maria Forstner, Heymut Omran, Thomas Kaiser, Christina Keßler, Heike Olbrich, Patrick Frosk, Abduarahman Almutairi, Craig D. Platt, Megan Elkins, Sabrina Weeks, Tamar Rubin, Raquel Planas, Tommaso Marchetti, Danil Koovely, Verena Klämbt, Neveen A. Soliman, Sandra von Hardenberg, Christian Klemann, Ulrich Baumann, Dominic Lenz, Andreas Klein‐Franke, Martin Schwemmle, Michael Huber, Ekkehard Sturm, Steffen Hartleif, Karsten Häffner, Charlotte Gimpel, Barbara Brotschi, Guido F. Laube, Tayfun Güngör, Michael F. Buckley, Raimund Kottke, Christian Staufner, Friedhelm Hildebrandt, Simone Reu‐Hofer, Solange Moll, Achim Weber, Hundeep Kaur, Stephan Ehl, Sebastian Hiller, Raif S. Geha, Tony Roscioli, Matthias Griese, Jana Pachlopnik Schmid

    出版 2021
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  15. 15
    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy 由 Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt‐Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynn M Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Luis F Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Saga Elise Eiset, Paul R. Mark, Mercelo R Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza LP Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rie szlig, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie A. Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan

    出版 2019
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  16. 16
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 由 Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Saga Elise Eiset, Luis Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Paul R. Mark, Marcelo Rodrigues Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones

    出版 2019
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  17. 17
    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling 由 Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes

    出版 2019
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  18. 18
    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects 由 Andrea Accogli, Sara Calabretta, Judith St‐Onge, Nassima Boudrahem‐Addour, Alexandre Dionne‐Laporte, Pascal Joset, Silvia Azzarello‐Burri, Anita Rauch, Joel B. Krier, Elizabeth L. Fieg, J. Carl Pallais, Allyn McConkie‐Rosell, Marie McDonald, Sharon F. Freedman, Jean‐Baptiste Rivière, Joël Lafond‐Lapalme, Brittany Simpson, Robert J. Hopkin, Aurélien Trimouille, Julien Van‐Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H. Sherr, Mariasavina Severino, Guy A. Rouleau, Patricia T. Yam, Frédéric Charron, Myriam Srour, Maria T. Acosta, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak‐Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves

    出版 2019
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  19. 19
    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 由 Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez‐Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan‐Khetarpal, Chelsea Roadhouse, Jennifer MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura Schultz‐Rogers, Erica L. Macke, Éva Morava, Eric W. Klee, Jennifer L. Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaëtan Lesca, Pascal Joset, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M. R. Castle, Melissa T. Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W.M. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen Kingston, Kate Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana H. Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R. Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Britt‐Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E. M. Diderich, Alice S. Brooks, Joost Gribnau, Ruben Boers, Teresa Robert-Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini

    出版 2021
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  20. 20
    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 由 Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco

    出版 2021
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