Sökresultat - Susan M. Hiatt

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  1. 1
    Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

    Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders av Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher Plott, Jerry Jenkins, Stacy W. Gray, James Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper

    Publicerad 2021
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  2. 2
    Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy

    Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy av Rikke S. Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valérie Taly, E. Martina Bebin, Susan M. Hiatt, Jeremy W. Prokop, Kevin M. Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H.G. Larsen, Eric LeGuern, Renzo Guerrini, Guido Rubboli, Gregory M. Cooper, Stéphanie Baulac

    Publicerad 2016
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  3. 3
    Systematic reanalysis of genomic data improves quality of variant interpretation

    Systematic reanalysis of genomic data improves quality of variant interpretation av Susan M. Hiatt, Michelle D. Amaral, Kevin M. Bowling, Candice R. Finnila, Michelle L. Thompson, Stacy W. Gray, James M.J. Lawlor, J. Nicholas Cochran, E. Martina Bebin, Kyle B. Brothers, Kelly M. East, Whitley V. Kelley, Neil E. Lamb, Shawn Levy, Edward J. Lose, Matthew B. Neu, Carla A. Rich, Shirley Simmons, R Myers, Gregory S. Barsh, Gregory M. Cooper

    Publicerad 2018
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  4. 4
    Genomic diagnosis for children with intellectual disability and/or developmental delay

    Genomic diagnosis for children with intellectual disability and/or developmental delay av Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, Stacy W. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana Whittle, Benjamin T. Weaver, Amy S. Nesmith, R Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper

    Publicerad 2017
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  5. 5
    RefSeq: an update on mammalian reference sequences

    RefSeq: an update on mammalian reference sequences av Kim D. Pruitt, Garth Brown, Susan M. Hiatt, Françoise Thibaud‐Nissen, Alexander Astashyn, Olga Ermolaeva, Catherine M. Farrell, Jennifer Hart, Melissa Landrum, Kelly M. McGarvey, Michael R. Murphy, Nuala A. O’Leary, Shashikant Pujar, Bhanu Rajput, Sanjida H Rangwala, Lillian D. Riddick, Andrei Shkeda, Hanzhen Sun, Pamela Tamez, Raymond E. Tully, Craig Wallin, David Webb, Janet A. Weber, Wendy Wu, Michael DiCuccio, Paul Kitts, Donna Maglott, Terence D. Murphy, James M. Ostell

    Publicerad 2013
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  6. 6
    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism av Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche

    Publicerad 2016
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  7. 7
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder av Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    Publicerad 2018
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  8. 8
    Genome sequencing as a first-line diagnostic test for hospitalized infants

    Genome sequencing as a first-line diagnostic test for hospitalized infants av Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, Stacy W. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick‐Esteve, Anna Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper

    Publicerad 2021
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  9. 9
    Current status and new features of the Consensus Coding Sequence database

    Current status and new features of the Consensus Coding Sequence database av Catherine M. Farrell, Nuala A. O’Leary, Rachel Harte, Jane Loveland, Laurens Wilming, Craig Wallin, Mark Diekhans, Daniel Barrell, Stephen M. J. Searle, Bronwen Aken, Susan M. Hiatt, Adam Frankish, Marie‐Marthe Suner, Bhanu Rajput, Charles A. Steward, Garth Brown, Ruth Bennett, Michael R. Murphy, Wendy Wu, Mike Kay, Jennifer Hart, Jeena Rajan, Janet A. Weber, Catherine Snow, Lillian D. Riddick, Toby Hunt, David Webb, Mark Thomas, Pamela Tamez, Sanjida H Rangwala, Kelly M. McGarvey, Shashikant Pujar, Andrei Shkeda, Jonathan M. Mudge, José M. González, James Gilbert, Stephen J. Trevanion, Robert Baertsch, Jennifer Harrow, Tim Hubbard, James M. Ostell, David Haussler, Kim D. Pruitt

    Publicerad 2013
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  10. 10
    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations av Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W.M. van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin W. Breuss, Guoling Tian, Nadia Bahi‐Buisson, Alexander Paciorkowski, Alistair T. Pagnamenta, Andrea Wenninger-Weinzierl, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C. Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti‐Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Bürglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A. Aldinger, William B. Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    Publicerad 2018
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  11. 11
    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size av Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller‐Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quēlin, Rhonda E. Schnur, Brooke Smith, Jonathan B. Strober, Susan Walker, Mathew Wallis, Laurence E. Walsh, Sandra Yang, Ryan K. C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez‐Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Abou Jamra

    Publicerad 2019
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  12. 12
    <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes

    <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes av Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James J. Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P.A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez‐Rangel, Nada Houcinat, Magalie Barth, Nicolette S. den Hollander, Mariette J. V. Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djémié, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R. Lemke, Christian Korff, Heather C. Mefford, Candace T. Meyers, Zsuzsanna Siegler, Susan M. Hiatt, Gregory M. Cooper, E. Martina Bebin, Lot Snijders Blok, Hermine E. Veenstra‐Knol, Evan H. Baugh, Eva H. Brilstra, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Anya Revah‐Politi, Elaine M. Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cédric Le Caignec, Brigitte Gilbert‐Dussardier, Frédéric Bilan, Erin L. Heinzen, David B. Goldstein, Servi J.C. Stevens, Tristan T. Sands

    Publicerad 2018
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  13. 13
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder av Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Publicerad 2019
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  14. 14
    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies av Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre D. Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy L. Schneider, Georgie Hollingsworth, David Fitzpatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean Jones, Y. C. Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus Boelman, Guy A. Rouleau

    Publicerad 2017
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