Kết quả tìm kiếm - Sarah Vergult

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  1. 1
    Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

    Interpreting the impact of noncoding structural variation in neurodevelopmental disorders Bằng Eva D’haene, Sarah Vergult

    Được phát hành 2020
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    Revisão
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  2. 2
    Array comparative genomic hybridization in male infertility

    Array comparative genomic hybridization in male infertility Bằng Katrien Stouffs, Deborah Vandermaelen, Annelien Massart, Björn Menten, Sarah Vergult, Herman Tournaye, Willy Lissens

    Được phát hành 2012
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    Artigo
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  3. 3
    Identification of long non-coding RNAs involved in neuronal development and intellectual disability

    Identification of long non-coding RNAs involved in neuronal development and intellectual disability Bằng Eva D’haene, Eva Jacobs, Pieter‐Jan Volders, Tim De Meyer, Björn Menten, Sarah Vergult

    Được phát hành 2016
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    Artigo
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  4. 4
    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability Bằng Sarah Vergult, Annelies Dheedene, Alfred Meurs, Fran Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, Björn Menten

    Được phát hành 2014
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    Artigo
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  5. 5
    ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

    ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation Bằng Tom Sante, Sarah Vergult, Pieter‐Jan Volders, Wigard P. Kloosterman, Geert Trooskens, Katleen De Preter, Annelies Dheedene, Frank Speleman, Tim De Meyer, Björn Menten

    Được phát hành 2014
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    Artigo
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  6. 6
    Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

    Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment Bằng Lisa Hamerlinck, Eva D’haene, Nore Van Loon, Michael Vaughan, María del Rocío Pérez Baca, Sebastian Leimbacher, Lara Colombo, Lies Vantomme, Esperanza Daal, Annelies Dheedene, Himanshu Goel, Björn Menten, Bert Callewaert, Sarah Vergult

    Được phát hành 2025
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  7. 7
    Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>)

    Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>) Bằng Arnaud Vanlander, Björn Menten, Joél Smet, Linda De Meırleır, Tom Sante, Boél De Paepe, Sara Seneca, Sarah F. Pearce, Christopher A. Powell, Sarah Vergult, Alex Michotte, Elien De Latter, Lies Vantomme, Michal Minczuk, Rudy Van Coster

    Được phát hành 2014
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    Artigo
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  8. 8
    New insights into the phenotype of FARS2 deficiency

    New insights into the phenotype of FARS2 deficiency Bằng Elise Vantroys, Austin Larson, Marisa W. Friederich, Kaz M. Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boél De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster

    Được phát hành 2017
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    Artigo
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  9. 9
    A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

    A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development Bằng Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

    Được phát hành 2024
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    Artigo
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  10. 10
    Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

    Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms Bằng Wigard P. Kloosterman, Masoumeh Tavakoli‐Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen

    Được phát hành 2012
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    Artigo
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  11. 11
    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination Bằng Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P. Hamel, Bart Leroy, Elfride De Baere

    Được phát hành 2016
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    Artigo
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  12. 12
    A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

    A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene Bằng María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Bart Demaut, Bekim Sadiković, Björn Menten, Bo Yuan, Sarah Vergult, Bert Callewaert

    Được phát hành 2023
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  13. 13
    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

    Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Bằng Nina De Rocker, Sarah Vergult, David A. Koolen, Eva Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie M.H.F. Bongers, Thomy de Ravel, Koenraad Devriendt, Sabrina Giglio, Laurence Faivre, Shelagh Joss, Saskia M. Maas, Nathalie Marle, Francesca Novara, Małgorzata J.M. Nowaczyk, Hilde Peeters, Abeltje M. Polstra, Filip Roelens, Carla Rosenberg, Julien Thévenon, Zeynep Tümer, Suzanne Vanhauwaert, Konstantinos Varvagiannis, Andy Willaert, Marjolein H. Willemsen, Marjolaine Willems, Orsetta Zuffardi, Paul Coucke, Frank Speleman, Evan E. Eichler, Tjitske Kleefstra, Björn Menten

    Được phát hành 2014
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    Artigo
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  14. 14
    Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

    Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Bằng Anneke T. Vulto‐van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, Nina De Rocker, Kathryn J. Newhall, Ramya Raghavan, Sara Reardon, Kelsey E. Jarrett, Tara McIntyre, Joseph Bulinski, Stacy L. Ownby, Jodi I. Huggenvik, G. Stanley McKnight, Gregory M. Rose, Xiang Cai, Andy Willaert, Christiane Zweier, Sabine Endele, Joep de Ligt, Bregje W.M. van Bon, Dorien Lugtenberg, Petra F. de Vries, Joris A. Veltman, Hans van Bokhoven, Han G. Brunner, Anita Rauch, Arjan P.M. de Brouwer, Gemma L. Carvill, Alexander Hoischen, Heather C. Mefford, Evan E. Eichler, Lisenka E.L.M. Vissers, Björn Menten, Michael W. Collard, Bert B.A. de Vries

    Được phát hành 2014
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    Artigo
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  15. 15
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus Bằng Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    Được phát hành 2013
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    Artigo
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  16. 16
    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Bằng Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    Được phát hành 2017
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    Artigo
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