Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jenny E.V. Morton"'
Autor:
Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101851- (2024)
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study o
Externí odkaz:
https://doaj.org/article/7b6e059bb8a041158140daf3599c8d99
Autor:
Zerin Hyder, Eduardo Calpena, Yang Pei, Rebecca S. Tooze, Helen Brittain, Stephen R.F. Twigg, Deirdre Cilliers, Jenny E.V. Morton, Emma McCann, Astrid Weber, Louise C. Wilson, Andrew G.L. Douglas, Ruth McGowan, Anna Need, Andrew Bond, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Christopher R. Boustred, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Susan L. Hill, Zandra C. Deans, Freya Boardman-Pretty, Mark Caulfield, Richard H. Scott, Andrew O.M. Wilkie
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeGenome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9eed5d7ca7a0485c39fbde57ad0b2d7
https://doi.org/10.1038/s41436-021-01297-5
https://doi.org/10.1038/s41436-021-01297-5
Autor:
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y. Huang, Ana P.G. Silva, Hane Lee, Emilie D. Douine, Maria G. Otero, Andrew Choi, Katheryn Grand, Ingrid P. Taff, Mauricio R. Delgado, M.J. Hajianpour, Andrea Seeley, Luis Rohena, Hilary Vernon, Karen W. Gripp, Samantha A. Vergano, Sonal Mahida, Sakkubai Naidu, Ana Berta Sousa, Karen E. Wain, Thomas D. Challman, Geoffrey Beek, Donald Basel, Judith Ranells, Rosemarie Smith, Roman Yusupov, Mary-Louise Freckmann, Lisa Ohden, Laura Davis-Keppen, David Chitayat, James J. Dowling, Richard Finkel, Andrew Dauber, Rebecca Spillmann, Loren D.M. Pena, Kay Metcalfe, Miranda Splitt, Katherine Lachlan, Shane A. McKee, Jane Hurst, David R. Fitzpatrick, Jenny E.V. Morton, Helen Cox, Sunita Venkateswaran, Juan I. Young, Eric D. Marsh, Stanley F. Nelson, Julian A. Martinez, John M. Graham, Usha Kini, Joel P. Mackay, Tyler Mark Pierson
Publikováno v:
Genetics in Medicine. 22:822
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18901331b7519f74f99c6cdd53536da4
https://doi.org/10.1038/s41436-020-0760-2
https://doi.org/10.1038/s41436-020-0760-2
Autor:
Jenny E.V. Morton
Publikováno v:
American Journal of Medical Genetics. 79:8-11
I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a822cfee52fb13e890d1b6ae073cd25
https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<8::aid-ajmg3>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<8::aid-ajmg3>3.0.co