Výsledky vyhledávání - Melissa T. Carter

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  1. 1
    Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis

    Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis Autor Tracy Yuen, Melanie Penner, Melissa T. Carter, Péter Szatmári, Wendy J. Ungar

    Vydáno 2018
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  2. 2
    Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

    Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals Autor Melissa T. Carter, Stephanie A. St. Pierre, Elaine H. Zackai, Beverly S. Emanuel, Kym M. Boycott

    Vydáno 2009
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  3. 3
    Lipophilic Mediated Assays for β-Hematin Inhibitors

    Lipophilic Mediated Assays for β-Hematin Inhibitors Autor Melissa D. Carter, Vanessa V. Phelan, Rebecca D. Sandlin, Brian O. Bachmann, David W. Wright

    Vydáno 2010
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  4. 4
    Use of the NP-40 Detergent-Mediated Assay in Discovery of Inhibitors of β-Hematin Crystallization

    Use of the NP-40 Detergent-Mediated Assay in Discovery of Inhibitors of β-Hematin Crystallization Autor Rebecca D. Sandlin, Melissa D. Carter, Patricia Lee, Jennifer M. Auschwitz, Susan E. Leed, Jacob D. Johnson, David W. Wright

    Vydáno 2011
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  5. 5
    Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

    Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia Autor Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter, K. Friend, Tracy Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman, Kym M. Boycott

    Vydáno 2012
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  6. 6
    Melatonin in Children with Autism Spectrum Disorders: Endogenous and Pharmacokinetic Profiles in Relation to Sleep

    Melatonin in Children with Autism Spectrum Disorders: Endogenous and Pharmacokinetic Profiles in Relation to Sleep Autor Suzanne E. Goldman, Karen W. Adkins, M. Wade Calcutt, Melissa D. Carter, R. Lucas Goodpaster, Lily Wang, Yaping Shi, Helen J. Burgess, David L. Hachey, Beth A. Malow

    Vydáno 2014
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  7. 7
    Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

    Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) Autor Melissa T. Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhaş, Sarah Dyack, Alison Eaton, Michal Inbar‐Feigenberg, Heather Howley, Anne Kawamura, M. E. Suzanne Lewis, M. Elizabeth McCready, Tanya N. Nelson, Hilary Vallance

    Vydáno 2023
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  8. 8
    Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

    Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment Autor Iltaf Ahmed, Rebecca Buchert, Mi Zhou, Xinfu Jiao, Kirti Mittal, Taimoor I. Sheikh, Ute Scheller, Nasim Vasli, Muhammad Rafiq, Muhammad Qasim Brohi, Anna Mikhailov, Muhammad Ayaz, Attya Bhatti, Heinrich Sticht, Tanveer Nasr, Melissa T. Carter, Steffen Uebe, André Reis, Muhammad Ayub, Peter John, Megerditch Kiledjian, John B. Vincent, Rami Abou Jamra

    Vydáno 2015
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  9. 9
    Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

    Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay Autor Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, Lia D’Abate, Daniele Merico, Ada J. S. Chan, Mehdi Zarrei, Kristiina Tammimies, Susan Walker, Matthew J. Gazzellone, Thomas Nalpathamkalam, Ryan K. C. Yuen, Koenraad Devriendt, Géraldine Mathonnet, Emmanuelle Lemyre, Sonia Nizard, Mary Shago, Ann M. Joseph‐George, Abdul Noor, Melissa T. Carter, Grace Yoon, Pekka Kannus, Frédérique Tihy, Erik C. Thorland, Christian R. Marshall, Janet A. Buchanan, Marsha Speevak, Dimitri J. Stavropoulos, Stephen W. Scherer

    Vydáno 2016
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  10. 10
    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome Autor Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T. Carter, Leo J. Lee, Carol L. Clericuzio, John M. Graham, Deborah Morris‐Rosendahl, Tilman Polster, Gyula Acsádi, Sharron Townshend, Simon Williams, Anne Halbert, Bertrand Isidor, Albert David, Christopher D. Smyser, Alex R. Paciorkowski, Marcia Willing, John Woulfe, Soma Das, Chandree L. Beaulieu, Janet Marcadier, Michael T. Geraghty, Brendan J. Frey, Jacek Majewski, Dennis E. Bulman, William B. Dobyns, Mark O’Driscoll, Kym M. Boycott

    Vydáno 2013
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  11. 11
    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders

    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders Autor Gilles Maussion, Cristiana Cruceanu, Jill A. Rosenfeld, Scott C. Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L. Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Kiyomi Ota, Christina M. Hultman, Colm O’Dushlaine, Steve McCarroll, Martin Alda, Sébastien Jacquemont, Zehra Ordulu, Christian R. Marshall, Melissa T. Carter, Lisa G. Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C. Morton, James F. Gusella, Gustavo Turecki, Dimitri J. Stavropoulos, Patrick F. Sullivan, Stephen W. Scherer, Michael E. Talkowski, Carl Ernst

    Vydáno 2016
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  12. 12
    Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

    Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Autor Yong‐hui Jiang, Ryan K. C. Yuen, Xin Jin, Mingbang Wang, Nong Chen, Xueli Wu, Jia Ju, Junpu Mei, Yujian Shi, Mingze He, Guangbiao Wang, Jieqin Liang, Zhe Wang, Dandan Cao, Melissa T. Carter, Christina Chrysler, Irene Drmic, Jennifer Howe, Lynette Lau, Christian R. Marshall, Daniele Merico, Thomas Nalpathamkalam, Bhooma Thiruvahindrapuram, Ann Thompson, Mohammed Uddin, Susan Walker, Jun Luo, Evdokia Anagnostou, Lonnie Zwaigenbaum, Robert H. Ring, Jian Wang, Clara Lajonchere, Jun Wang, Andy Shih, Peter Szatmari, Huanming Yang, Géraldine Dawson, Yingrui Li, Stephen W. Scherer

    Vydáno 2013
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  13. 13
    Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study

    Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study Autor Aakash Shrivastava, Anil Kumar, Jerry D. Thomas, Kayla F. Laserson, Gyan Bhushan, Melissa D. Carter, Mala Chhabra, Veena Mittal, Shashi Khare, James J. Sejvar, Mayank Dwivedi, Samantha L. Isenberg, Rudolph C. Johnson, James L. Pirkle, J. Daniel Sharer, Patricia Hall, Rajesh Singh Yadav, Anoop Velayudhan, Mohan Kumar Papanna, Pankaj Singh, D Somashekar, Arghya Pradhan, Kapil Goel, Rajesh Pandey, Mohan Kumar, Satish Kumar, Amit Chakrabarti, Pitchiah Sivaperumal, Asirvatham Ramesh Kumar, Joshua G. Schier, Arthur Chang, Leigh A. Graham, Thomas P. Mathews, Darryl Johnson, Liza Valentin, Kathleen L. Caldwell, Jeffery M. Jarrett, Leslie A. Harden, Gary R. Takeoka, Suxiang Tong, Krista Queen, Clinton R. Paden, Anne M. Whitney, Dana L. Haberling, Ram Singh, Ravi Shankar Singh, Kenneth C. Earhart, A C Dhariwal, L S Chauhan, S. Venkatesh, Padmini Srikantiah

    Vydáno 2017
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  14. 14
    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 Autor 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

    Vydáno 2017
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  15. 15
    A large data resource of genomic copy number variation across neurodevelopmental disorders

    A large data resource of genomic copy number variation across neurodevelopmental disorders Autor 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

    Vydáno 2019
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  16. 16
    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 Autor 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

    Vydáno 2016
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  17. 17
    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 Autor 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

    Vydáno 2013
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  18. 18
    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production Autor Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka‐Turski, Tianyun Wang, Tzung‐Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley C. Adès, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie‐José H. van den Boogaard, Jennifer Wambach, D.J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C. Towne, Kristine Bachman, Andrea Seeley, Anita Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hákon Hákonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René G. Feichtinger, Johannes A. Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François V. Bolduc, Elke Krüger, Stéphane Bézieau

    Vydáno 2023
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  19. 19
    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 Autor 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

    Vydáno 2017
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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 Autor 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

    Vydáno 2021
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