Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Alice Basinger"'
Autor:
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation
Externí odkaz:
https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364
Autor:
Aguan D, Wei, Paul, Wakenight, Theresa A, Zwingman, Angela M, Bard, Nikhil, Sahai, Marjolein H, Willemsen, Helenius J, Schelhaas, Alexander P A, Stegmann, Judith S, Verhoeven, Stella A, de Man, Marja W, Wessels, Tjitske, Kleefstra, Deepali N, Shinde, Katherine L, Helbig, Alice, Basinger, Victoria F, Wagner, David, Rodriguez-Buritica, Emily, Bryant, John J, Millichap, Kathleen J, Millen, William B, Dobyns, Jan-Marino, Ramirez, Franck K, Kalume
Publikováno v:
J Neurophysiol
We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona
Autor:
Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume
Publikováno v:
Journal of Neurophysiology, 128(1), 40-61. American Physiological Society
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61
We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona
Publikováno v:
Clinical chemistry. 67(9)
Autor:
Lance H. Rodan, Chelsea Chambers, Sophie Calvert, Montserrat Arellano, Elisabeth Gabau, Amy L Schneider, Jacques L. Michaud, Ariane Soldatos, Nino Spataro, M. Scott Perry, Gerarda Cappuccio, Christopher Balak, Mary D. King, Alison M. Muir, Heather C Mefford, Elsa Rossignol, Katherine L. Helbig, Carsten G. Bönnemann, Ingrid E. Scheffer, Candace T. Myers, Nicola Brunetti-Pierri, Kathleen M. Gorman, Sandra Donkervoort, Alice Basinger, Fadi F. Hamdan
Publikováno v:
Epilepsia. 62
Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41-q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR
Autor:
Alison M. Muir, Dianne Laboy Cintrón, Katherine H. Kim, Amber Begtrup, Peter I. Karachunski, Almuth Caliebe, Heather C Mefford, Amy Lacroix, J. Lawrence Merritt, Kirsty McWalter, Angela Sun, Sharon F. Suchy, Barbara K. Burton, Ingo Helbig, René Santer, Joline C. Dalton, Dmitriy Niyazov, Rachel Westman, Ganka Douglas, Leah Fleming, Hiltrud Muhle, Kristin G. Monaghan, Alice Basinger, Katherine L. Helbig, Jenny Thies, Kolja Becker, Manuela Pendziwiat, Can Ficicioglu, Megan T. Cho, Jennifer N. Dines, Francisca Millan, Katie Golden-Grant
Publikováno v:
Genetics in Medicine
Purpose TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopa
Autor:
F.-Nora Vögtle, Carolyn F. Delto, Hiltrud Muhle, Nils Burger, Marisa W. Friederich, Johanna A. Jähn, Ingo Helbig, Audrey Burnett, Maie Walsh, Naomichi Matsumoto, Cansu Kücükköse, Björn Brändl, Franz-Josef Müller, Hung-Chun Yu, Andreas van Baalen, Deepali N. Shinde, Austin Larson, Susan M. White, Alice Basinger, Noriko Miyake, Oliver Keminer, Ulrich Stephani, Manuela Pendziwiat, Dirk Mossmann, Lisa Myketin, Katherine L. Helbig, Mark A. Lovell, Johan L.K. Van Hove
Publikováno v:
American Journal of Human Genetics
Mitochondrial disorders causing neurodegeneration in childhood are genetically heterogeneous, and the underlying genetic etiology remains unknown in many affected individuals. We identified biallelic variants in PMPCB in individuals of four families
Autor:
Berivan Baskin, Holly Dubbs, Marta Szybowska, Cruz Velasco Gonzalez, Jennifer L. Fish, Chumei Li, Yuri A. Zarate, Elaine H. Zackai, Alice Basinger, Richard E. Person, Samantha A. Schrier Vergano, Aisling R. Caffrey, Zhou Luan Xu, Aida Telegrafi, Louisa Kalsner, Julie R. Jones, David B. Everman, Francisca Millan
Publikováno v:
Clinical Genetics. 92:423-429
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift
Autor:
Louise Bier, Fan Xia, Zhong Ren, Susan Schelley, Geoffrey Wallace, Amy L Schneider, Thomas Besnard, Tracy Dudding-Byth, David Goldstein, Benjamin Cogné, Gregory M. Enns, Xiaolin Zhu, Jill A. Rosenfeld, Edwin Guzman, Xenia Latypova, Joanne M. Nguyen, Anya Revah Politi, James J. Riviello, Sophie Colombo, Erin L. Heinzen, Candace T. Myers, Bertrand Isidor, Joline C. Dalton, Theresa A. Grebe, Michele G. Mehaffey, Peter I. Karachunski, Kwame Anyane-Yeboa, Jonathan A. Bernstein, Slavé Petrovski, Klaas J. Wierenga, Alice Basinger, Heather C Mefford, Martin G. Bialer, Pierre Corre, Ingrid E. Scheffer, Emily Becraft, Stéphane Bézieau, Natasha Shur, Sandra Mercier, Aaron Rosen, Christine Moore, Sébastien Schmitt, Sébastien Küry, Alexandrea Wadley, Parisa Hemati, Ian Andrews
Publikováno v:
The American Journal of Human Genetics. 98:1001-1010
Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding pro
Natural History and Genotype-Phenotype Correlations in 72 Individuals with SATB2-Associated Syndrome
Autor:
Adi Algrabli, Sonal Mahida, William Allen, Cruz Velasco Gonzalez, Marta Szybowska, Aditi Shah Parikh, Quinn Stein, Katie Golden-Grant, David B. Everman, Hailey Pinz, Chumei Li, Mary-Alice Abbott, Anita E. Beck, Alice Basinger, Rebecca McClellan, Victoria Mok Siu, Brittney Knyszek, Leah Fleming, Caroline Brain, Angela Sun, Chantalle Raimondi, Elizabeth A. Sellars, Arti Pandya, Anne Slavotinek, Wendy E. Smith, Meena Balasubramanian, Hazel Perry, Elaine H. Zackai, Michelle Steinraths, E. Martina Bebin, Amelia Kirby, Nathaniel H. Robin, Yuri A. Zarate, Holly Dubbs, Julie Kaylor, Wendy K. Chung, Xilma R. Ortiz-Gonzalez, Margarita Saenz, Louisa Kalsner, Constance Smith-Hicks, Louise C. Wilson, Allison D. Britt, Hilary J. Vernon, Michael J. Gambello, Joseph W. Ray, Katherine A. Bosanko, Carol L. Greene, Samantha A. Schrier Vergano, Julie S. Cohen, Cynthia M. Powell, Jonathan Picker, Alena Egense, Suzanna Schott, Amy R. U. L. Calhoun, Ajith Kuttannair Kumar, Brad Angle, Ali Fatemi, Hannah Bombei
Publikováno v:
Paediatrics Publications
SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383416bf76e65b20350d3043c8b734b4
https://ir.lib.uwo.ca/paedpub/138
https://ir.lib.uwo.ca/paedpub/138