Rezultati - Cheryl Cytrynbaum

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  1. 1
    Anatomy of DNA methylation signatures: Emerging insights and applications

    Anatomy of DNA methylation signatures: Emerging insights and applications od Eric Chater‐Diehl, Sarah J. Goodman, Cheryl Cytrynbaum, Andrei L. Turinsky, Sanaa Choufani, Rosanna Weksberg

    Izdano 2021
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  2. 2
    Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

    Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants od M. Siu, Darci T. Butcher, Andrei L. Turinsky, Cheryl Cytrynbaum, Dimitri J. Stavropoulos, Susan Walker, Oana Caluseriu, M. Carter, Y. Lou, Rob Nicolson, Stelios Georgiades, Péter Szatmári, Evdokia Anagnostou, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg

    Izdano 2019
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  3. 3
    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome od Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia

    Izdano 2006
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  4. 4
    Elastin: mutational spectrum in supravalvular aortic stenosis

    Elastin: mutational spectrum in supravalvular aortic stenosis od Kay Metcalfe, Agnes K Rucka, Leslie Smoot, Guenter Hofstadler, Gerald Tuzler, Pascal McKeown, Victoria Mok Siu, Anita Rauch, John Dean, N R Dennis, Ian O. Ellis, William Reardon, Cheryl Cytrynbaum, Lucy R. Osborne, John R.W. Yates, Andrew Read, Dian Donnai, Mayada Tassabehji

    Izdano 2000
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  5. 5
    NSD1 mutations generate a genome-wide DNA methylation signature

    NSD1 mutations generate a genome-wide DNA methylation signature od Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Andrei L. Turinsky, Daria Grafodatskaya, Youxi Chen, Ana S.A. Cohen, Lucie Dupuis, Darci T. Butcher, M. Siu, Ho‐Ming Luk, Ivan F. M. Lo, Stephen T.S. Lam, Oana Caluseriu, Dimitri J. Stavropoulos, William Reardon, Roberto Mendoza‐Londono, Michael Brudno, William T. Gibson, David Chitayat, Rosanna Weksberg

    Izdano 2015
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  6. 6
    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions od Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, Michelle T. Siu, Michal Inbar‐Feigenberg, Roberto Mendoza‐Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert‐Dussardier, Alain Verloès, Frédéric Bilan, Jeff M. Milunsky, Raveen Basran, Blake C. Papsin, Tracy Stockley, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg

    Izdano 2017
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  7. 7
    Practical guidelines for managing adults with 22q11.2 deletion syndrome

    Practical guidelines for managing adults with 22q11.2 deletion syndrome od Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W.C. Chow, Brian Hon‐Yin Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García‐Miñaúr, Susan R. George, Anthony E. Lang, Gabriela M. Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Anne S. Bassett

    Izdano 2015
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  8. 8
    DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

    DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes od Sanaa Choufani, William T. Gibson, Andrei L. Turinsky, Brian Hon‐Yin Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S.A. Cohen, Sharri Cyrus, Sarah J. Goodman, Eric Chater‐Diehl, Jack Brzezinski, Michael Brudno, Luk Ho Ming, Susan M. White, Sally Ann Lynch, Carol L. Clericuzio, I. Karen Temple, Frances Flinter, Vivienne McConnell, Tom Cushing, Lynne M. Bird, Miranda Splitt, Bronwyn Kerr, Stephen W. Scherer, Jerry Machado, Eri Imagawa, Nobuhiko Okamoto, Naomichi Matsumoto, Giuseppe Testa, Maria Iascone, Romano Tenconi, Oana Caluseriu, Roberto Mendoza‐Londono, David Chitayat, Cheryl Cytrynbaum, Katrina Tatton‐Brown, Rosanna Weksberg

    Izdano 2020
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  9. 9
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes od Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    Izdano 2012
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  10. 10
    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 od 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

    Izdano 2022
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  11. 11
    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism od María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin Barañano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara Inglese, Courtney Kiss, Mary Kay Koenig, Joel B. Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen Moran, Chantal F. Morel, Weiyi Mu, Eric Muller, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Melissa Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola

    Izdano 2020
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  12. 12
    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation od Nicole Revençu, Laurence M. Boon, Antonella Mendola, Maria Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulàlia Baselga, A. Dompmartin, Samira Syed, A. Martín‐Santiago, Lesley C. Adès, Felicity Collins, Janine Smith, Sarah A. Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti‐Pierri, Asunción Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol Gardiner, Yim Dwight, David Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah L. Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, María del Carmen Boente, C. Léauté‐Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, J. Mazereeuw‐Hautier, Brid O’Donnell, D. Bessis, Reed E. Pyeritz, Aïcha Salhi, Oon Tian Tan, Orli Wargon, John B. Mulliken, Miikka Vikkula

    Izdano 2013
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  13. 13
    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test od Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon Dell, Priya Dhir, James J. Dowling, Elise Héon, Stacy Hewson, Linda T. Hiraki, Michal Inbar‐Feigenberg, Regan Klatt, Jonathan B. Kronick, Ronald M. Laxer, Christoph Licht, H. Robson MacDonald, Saadet Mercimek‐Andrews, Roberto Mendoza‐Londono, Tino D. Piscione, Rayfel Schneider, Andreas Schulze, Earl D. Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall

    Izdano 2017
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  14. 14
    A large data resource of genomic copy number variation across neurodevelopmental disorders

    A large data resource of genomic copy number variation across neurodevelopmental disorders od Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edwin J. Young, Edward J. Higginbotham, Jeffrey R. MacDonald, Brett Trost, Ada J. S. Chan, Susan Walker, Sylvia Lamoureux, Tracy Heung, Bahareh A. Mojarad, Barbara Kellam, Tara Paton, Muhammad Faheem, Karin Miron, Chao Lu, Ting Wang, Kozue Samler, Xiaolin Wang, Gregory Costain, Ny Hoang, Giovanna Pellecchia, John Wei, Rohan Patel, Bhooma Thiruvahindrapuram, Maian Roifman, Daniele Merico, Tara Goodale, Irene Drmic, Marsha Speevak, Jennifer Howe, Ryan K. C. Yuen, Janet A. Buchanan, Jacob Vorstman, Christian R. Marshall, Richard F. Wintle, David R. Rosenberg, Gregory L. Hanna, Marc Woodbury‐Smith, Cheryl Cytrynbaum, Lonnie Zwaigenbaum, Mayada Elsabbagh, Janine Flanagan, Bridget A. Fernandez, Melissa T. Carter, Peter Szatmari, Wendy Roberts, Jason P. Lerch, Xudong Liu, Rob Nicolson, Stelios Georgiades, Rosanna Weksberg, Paul Arnold, Anne S. Bassett, Jennifer Crosbie, Russell Schachar, Dimitri J. Stavropoulos, Evdokia Anagnostou, Stephen W. Scherer

    Izdano 2019
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  15. 15
    Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

    Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine od Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego, Robin Z. Hayeems, Randi Zlotnik Shaul, Michael Brudno, Marta Gîrdea, Brendan J. Frey, Babak Alipanahi, Sohnee Ahmed, Riyana Babul‐Hirji, Ramses Badilla Porras, Melissa T. Carter, Lauren Chad, Ayeshah Chaudhry, David Chitayat, Soghra Jougheh Doust, Cheryl Cytrynbaum, Lucie Dupuis, Resham Ejaz, Leona Fishman, Andrea Guerin, Bita Hashemi, Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall

    Izdano 2016
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  16. 16
    Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

    Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder od Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Jennifer Howe, Bhooma Thiruvahindrapuram, Rohan Patel, J. Andrew Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A. Buchanan, Susan Walker, Christian R. Marshall, Mohammed Uddin, Mehdi Zarrei, Éric Deneault, Lia D’Abate, Ada J. S. Chan, Stephanie Koyanagi, Tara Paton, Sérgio L. Pereira, Ny Hoang, Worrawat Engchuan, Edward J. Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R. MacDonald, Thomas Nalpathamkalam, Wilson W. L. Sung, Fiona J. Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael J. Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury‐Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy A.R. Doyle‐Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion‐Lemieux, Isabel M. Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H. Cook, Stephen R. Dager, Annette Estes, Louise Gallagher, Beth A. Malow, Jeremy Parr, Sarah Spence, Jacob Vorstman, Brendan J. Frey, James Robinson, Lisa J. Strug, Bridget A. Fernandez, Mayada Elsabbagh, Melissa T. Carter, Joachim Hallmayer, Bartha Maria Knoppers, Evdokia Anagnostou, Peter Szatmari, Robert H. Ring, David Glazer, Mathew T. Pletcher, Stephen W. Scherer

    Izdano 2017
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  17. 17
    Functional impact of global rare copy number variation in autism spectrum disorders

    Functional impact of global rare copy number variation in autism spectrum disorders od Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian P. Casey, Brian Hon‐Yin Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Anath C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge

    Izdano 2010
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  18. 18
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects od Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Izdano 2020
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  19. 19
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature od Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg

    Izdano 2021
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  20. 20
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome od Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Izdano 2021
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