檢索結果 - Paul R. Mark

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  1. 1
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 由 Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    出版 2016
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  2. 2
    Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes

    Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes 由 Susanne Roosing, Marta Romani, Mala Isrie, Rasim Özgür Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al‐Gazali, Umut Altunoğlu, Eugen Boltshauser, Stefano D’Arrigo, B. De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Dua Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente

    出版 2016
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  3. 3
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome 由 Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković

    出版 2019
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  4. 4
    Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

    Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations 由 Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C. Braverman, Lesley C. Adès, Susan Benedict, Timothy J. Bradley, M. Elizabeth Brickner, Kathryn C. Chatfield, Anne H. Child, Cori Feist, Kathryn W. Holmes, Glen Iannucci, Birgit Lorenz, Paul R. Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A. Morris, Anna L. Mitchell, John R. Østergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Anthony L. Estrera, Patricia L. Musolino, Anji T. Yetman, Reed E. Pyeritz, Dianna M. Milewicz

    出版 2018
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  5. 5
    NAD Deficiency, Congenital Malformations, and Niacin Supplementation

    NAD Deficiency, Congenital Malformations, and Niacin Supplementation 由 Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella MMA Martin, Roni Wang, Julie Moreau, Chai K. Lim, Justin O. Szot, Eddie Ip, James N. Hughes, Kotaro Sugimoto, David T. Humphreys, Aideen M. McInerney‐Leo, Paul Leo, Ghassan J. Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R. Mark, Felicity Collins, David Sillence, David S. Winlaw, Joshua W. K. Ho, Gilles J. Guillemin, Matthew A. Brown, Kazu Kikuchi, Paul Q. Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L. Duncan, Duncan B. Sparrow, Sally L. Dunwoodie

    出版 2017
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  6. 6
    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities 由 Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı

    出版 2021
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  7. 7
    Mutation update for the <i>SATB2</i> gene

    Mutation update for the <i>SATB2</i> gene 由 Yuri A. Zárate, Katherine A. Bosanko, Aislling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry‐Kravis, Paul R. Mark, Melanie A. Manning, Vikas Bhambhani, Marcelo Alves Vargas, Andrea Seeley, Juvianee Estrada‐Veras, Marieke F. van Dooren, Maria Schwab, Adeline Vanderver, Daniela Melis, Adnan Alsadah, Laurie S. Sadler, Hilde Van Esch, Bert Callewaert, Ann Oostra, Jane MacLean, Maria Lisa Dentici, Valeria Orlando, Mark Lipson, Steven Sparagana, Timothy J. Maarup, Suzanne Alsters, Ariel Brautbar, Eliana Kovitch Thropp, Sakkubai Naidu, Melissa Lees, Douglas M. Smith, Lesley Turner, Víctor Raggio, Lucía Spangenberg, Sixto García‐Miñaúr, Elizabeth Roeder, Rebecca O. Littlejohn, Dorothy K. Grange, Jean P. Pfotenhauer, Marilyn C. Jones, Meena Balasubramanian, Antonio Federico Martínez‐Monseny, Lot Snijders Blok, Ralitza Gavrilova, Jennifer L. Fish

    出版 2019
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  8. 8
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 由 Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler

    出版 2010
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  9. 9
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome 由 Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    出版 2021
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  10. 10
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants 由 Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    出版 2022
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  11. 11
    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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  12. 12
    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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