Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Jessica L. Waxler"'
Autor:
Barbara R. Pober, Jessica L. Waxler, Christopher J. McDougle, Christopher J. Keary, Robyn P. Thom
Publikováno v:
Journal of Autism and Developmental Disorders. 50:676-682
Co-morbid anxiety disorders, including generalized anxiety disorder (GAD), are highly prevalent among individuals with Williams syndrome (WS). However, reports of the pharmacologic treatment of only a limited number of previous anxiety disorders in W
Autor:
John C, Huston, Robyn P, Thom, Caitlin T, Ravichandran, Jennifer E, Mullett, Carly, Moran, Jessica L, Waxler, Barbara R, Pober, Christopher J, McDougle
Publikováno v:
Journal of autism and developmental disorders. 52(2)
The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) or Children's Y-BOCS, the Yale Global Tic Severity Scale, the
Autor:
Paulien A Terhal, Rosa Pettinato, Jessica Jackson, Maria J. Guillen Sacoto, R. Frank Kooy, Rolph Pfundt, Grace E. VanNoy, Asbjørg Stray-Pedersen, Elizabeth Judd, Tuula Rinne, Rhonda E. Schnur, Marie José H. Van Den Boogaard, Jolien S. Klein Wassink-Ruiter, Paldeep S. Atwal, David A. Sweetser, Ilse J. Anderson, Jessica L. Waxler, Ilse M. van der Werf, Kristian Tveten, Alexander P.A. Stegmann, Petra de Vries, Alexandra Afenjar, Lisenka E.L.M. Vissers, Anke Van Dijck, Sonja A. de Munnik, Anthonie J. van Essen, Ivan Iossifov, Marcia C. Willing, Charu Kaiwar, Charlotte W. Ockeloen, Joris A. Veltman, Mieke M. van Haelst, Diane Doummar, Sandra Jansen, Marije Meuwissen, Eric W. Klee, Pankaj B. Agrawal, Ellen van Binsbergen, Bert B.A. de Vries, Victoria R. Sanders, A. Micheil Innes, Kristin G. Monaghan, Hilary Racher, Corrado Romano, Zeynep Coban-Akdemir, Albertien M. van Eerde, Eric J. Smeets, Caroline Nava, Lucia Castiglia, Boris Keren, Koen L.I. van Gassen
Publikováno v:
European Journal of Human Genetics, 27(5), 738. Nature Publishing Group
European Journal of Human Genetics, 27(5), 738-746. Nature Publishing Group
European journal of human genetics
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L, Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen, K L, Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L, Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik, S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L, Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, ' De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms ', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746 . https://doi.org/10.1038/s41431-018-0292-2
Eur J Hum Genet
European Journal of Human Genetics, 27, 5, pp. 738-746
European Journal of Human Genetics, 27, 738-746
European Journal of Human Genetics, 27(5), 738-746. Nature Publishing Group
European journal of human genetics
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L, Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen, K L, Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L, Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik, S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L, Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, ' De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms ', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746 . https://doi.org/10.1038/s41431-018-0292-2
Eur J Hum Genet
European Journal of Human Genetics, 27, 5, pp. 738-746
European Journal of Human Genetics, 27, 738-746
Determining pathogenicity of genomic variation identified by next-generation sequencing techniques can be supported by recurrent disruptive variants in the same gene in phenotypically similar individuals. However, interpretation of novel variants in
Autor:
Bettina E. Mucha, Marianne Till, Tobias Linden, Mary Ann Thomas, Carl Ernst, Philippe M. Campeau, Jessica L. Waxler, Sau Wai Cheung, Damien Sanlaville, Jozef Gecz, Lesley M McGregor, Sanjay M. Sisodiya, Gary G. Chen, Michael Harbord, Mary Kay Koenig, Renee Perrier, Jennelle C. Hodge, Rhamat B. Adejumo, Jillian Nicholl, Norbert F. Ajeawung, Emmanuelle Lemyre, Brian G. Skotko, Siddharth Banka, Sirinart Molidperee, Renee Myriam Boucher
Publikováno v:
Mucha, B E, Banka, S, Ajeawung, N F, Molidperee, S, Chen, G G, Koenig, M K, Adejumo, R B, Till, M, Harbord, M, Perrier, R, Lemyre, E, Boucher, R-M, Skotko, B G, Waxler, J L, Thomas, M A, Hodge, J C, Gecz, J, Nicholl, J, McGregor, L, Linden, T, Sisodiya, S M, Sanlaville, D, Cheung, S W, Ernst, C & Campeau, P M 2019, ' A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, no. 5, pp. 1058-1064 . https://doi.org/10.1038/s41436-018-0290-3
PURPOSE: Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. However, chromosomal microarray studies (CMA) still yield copy-number variants (CNVs) of unknow
Autor:
Barbara R. Pober, Jessica L. Waxler, Kathy Grinke, Jamie Garry, Hang Lee, Sofia D Shaikh, Takara L. Stanley
Publikováno v:
Clinical Endocrinology. 89:596-604
Williams syndrome (WS) is a micro-deletion disorder involving loss of a contiguous stretch of 26–28 genes on chromosome 7q11.23. It is characterized by vascular stenoses, a distinctive pattern of neurodevelopmental findings, and several endocrine a
Autor:
Jessica L. Waxler, Aidan Gallagher, Abigail Alexander, Christopher J. McDougle, Barbara R. Pober
Publikováno v:
Journal of Intellectual & Developmental Disability. 44:244-247
Background: Post-traumatic stress disorder (PTSD) in paediatric patients following cardiac surgery has been well reported. Patients with Williams syndrome often require surgical intervention to correct congenital cardiovascular abnormalities and typi
Autor:
Bettina E. Mucha, Sanjay M. Sisodiya, Jessica L. Waxler, Jozef Gecz, Norbert F. Ajeawung, Carl Ernst, Tobias Linden, Jillian Nicholl, Rhamat B. Adejumo, Emmanuelle Lemyre, Philippe M. Campeau, Damien Sanlaville, Sau Wai Cheung, Siddharth Banka, Sirinart Molidperee, Renee Perrier, Michael Harbord, Renee Myriam Boucher, Brian G. Skotko, Mary Ann Thomas, Mary Kay Koenig, Marianne Till, Jennelle C. Hodge, Lesley M McGregor, Gary G. Chen
Publikováno v:
Mucha, BE, Banka, S, Ajeawung, NF, Molidperee, S, Chen, GG, Koenig, MK, Adejumo, RB, Till, M, Harbord, M, Perrier, R, Lemyre, E, Boucher, RM, Skotko, BG & Campeau, PM 2019, ' Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-018-0413-x
Autor:
Francisca Lange Valdés, Barbara R. Pober, Jessica L. Waxler, Christopher J. Keary, Jennifer E Mullett, Christopher J. McDougle, Michelle L. Palumbo
Publikováno v:
Journal of autism and developmental disorders. 48(3)
Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, thi
Autor:
Megan T. Cho, Nathaniel H. Robin, Yufeng Shen, David A. Sweetser, Wendy K. Chung, Payam Mohassel, Kyle Retterer, Christine Moore, Martin G. Bialer, Carsten G. Bönnemann, Lynne A. Wolfe, Francisca Millan, Christine M. Eng, Yunru Shao, Jessica L. Waxler, Cynthia J. Tifft, Esther R. Berko, Fallon Brewer, Sandra Donkervoort
Publikováno v:
Journal of Medical Genetics. 54:84-86
Background The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. Methods and results In this study, we performed whole exome sequencing on a large cohor
Autor:
Sebastian A. Leidel, Sarah Vergult, Olivier Gribouval, Olivia Boyer, Annapurna Poduri, Fatih Ozaltin, Heon Yung Gee, Oraly Sanchez-Ferras, Ankana Daga, David A. Sweetser, Chyong Hsin Hsu, Carolin E. Sadowski, Nithiwat Vatanavicharn, Shirlee Shril, Bruno Collinet, Verena Matejas, Jeremy F.P. Ullmann, Jennifer A. Lawson, Weizhen Tan, David Chitayat, Peter Kannu, Emmanuelle Lemyre, Megan T. Cho, Gaëlle H. Martin, Amber Begtrup, Jui Hsing Chang, Matthias T.F. Wolf, Agnieszka Prytuła, Jennifer Hu, Peter C. Dedon, Sik Nin Wong, Gessica Truglio, Maxime Bouchard, Sandra D. Kienast, Tobias Hermle, Merlin Airik, Manish D. Sinha, Rebecca O. Littlejohn, Takashi Shiihara, Daniella Magen, Yu Yuan Ke, Kenza Soulami, Denny Schanze, Chitra Prasad, Dominique Liger, Svjetlana Lovric, Kazuyuki Nakamura, Jameela A. Kari, Wai Ming Lai, Wen Hui Tsai, Jeng Daw Tsai, Eugen Widmeier, Neveen A. Soliman, Tilman Jobst-Schwan, Shazia Ashraf, Amira Masri, Jia Rao, Jillian K. Warejko, Tamara Basta, Martin Zenker, Brendan Beeson, Corinne Antignac, Malcolm Bruce, Patrick E. Gipson, Mónica Furlano, Géraldine Mollet, Johanna Magdalena Schmidt, Jessica L. Waxler, Daniela A. Braun, Karin Scharmann, David Schapiro, Shrikant Mane, Shuan-Pei Lin, Marleen Praet, Patrick M. Gaffney, Werner L. Pabst, Charlotte A. Hoogstraten, Björn Menten, Nina De Rocker, Richard P. Lifton, Anne Claire Boschat, Klaas J. Wierenga, Chao Huei Chen, Cathy Kiraly-Borri, Nathalie Boddaert, Marie Claire Daugeron, Bert Callewaert, Gaik Siew Ch’ng, Sylvia Sanquer, Won-Il Choi, Udo Vester, Herman van Tilbeurgh, Rezan Topaloglu, David Viskochil, Elizabeth Roeder, Friedhelm Hildebrandt, I. Chiara Guerrera, Rhonda E. Schnur, Patrick Rump, Babak Behnam, Patrick Revy, Mastaneh Moghtaderi
Publikováno v:
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, ⟨10.1038/ng.3933⟩
Nature Genetics, 2017, ⟨10.1038/ng.3933⟩
Nature Genetics, 49(10). Nature Publishing Group
Paediatrics Publications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, ⟨10.1038/ng.3933⟩
Nature Genetics, 2017, ⟨10.1038/ng.3933⟩
Nature Genetics, 49(10). Nature Publishing Group
Paediatrics Publications
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5149c609ed835e010035f2f5e682ae
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85030166114&doi=10.1038/ng.3933&partnerID=40&md5=a1228a74eb86a474fff8b46b93b5e763
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85030166114&doi=10.1038/ng.3933&partnerID=40&md5=a1228a74eb86a474fff8b46b93b5e763