Zobrazeno 1 - 10
of 15
pro vyhledávání: '"C4RCD Research Group,"'
Autor:
Rebecca F. Halperin, Apurva Hegde, Jessica D. Lang, Elizabeth A. Raupach, C4RCD Research Group, Christophe Legendre, Winnie S. Liang, Patricia M. LoRusso, Aleksandar Sekulic, Jeffrey A. Sosman, Jeffrey M. Trent, Sampathkumar Rangasamy, Patrick Pirrotte, Nicholas J. Schork
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract The robust detection of disease-associated splice events from RNAseq data is challenging due to the potential confounding effect of gene expression levels and the often limited number of patients with relevant RNAseq data. Here we present a
Externí odkaz:
https://doaj.org/article/a3220a92cf2645288aad59ed2f183636
Autor:
Jinhong Wie, Apoorva Bharthur, Morgan Wolfgang, Vinodh Narayanan, Keri Ramsey, C4RCD Research Group, Kimberly Aranda, Qi Zhang, Yandong Zhou, Dejian Ren
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
The sodium-leak channel NALCN controls the resting membrane potentials of neurons. Here, the authors identified two subunits of NALCN, UNC80 and UNC79. Domains in UNC80, which are mutated in individuals with intellectual disability, interact to achie
Externí odkaz:
https://doaj.org/article/2da46ae4d7614b2cae274917ec573a89
Autor:
Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined b
Externí odkaz:
https://doaj.org/article/ea0d836e898d4bdc88b6a0d98d57ecd8
Autor:
Mohan Narayanan, Keri Ramsey, Theresa Grebe, Isabelle Schrauwen, Szabolcs Szelinger, Matthew Huentelman, David Craig, Vinodh Narayanan, C4RCD Research Group
Publikováno v:
F1000Research, Vol 4 (2015)
Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such pren
Externí odkaz:
https://doaj.org/article/826d38009a394689a4d1e542a1cbf769
Autor:
Chen, Chun-An, Crutcher, Emeline, Gill, Harinder, Nelson, Tanya N., Robak, Laurie A., Jongmans, Marjolijn C.J., Pfundt, Rolph, Prasad, Chitra, Berard, Roberta A., Fannemel, Madeleine, Frengen, Eirik, Misceo, Doriana, Ramsey, Keri, Yang, Yaping, Schaaf, Christian P., Wang, Xia, CAUSES, Study, C4RCD, Research Group
Publikováno v:
Chen, Chun-An Crutcher, Emeline Gill, Harinder Nelson, Tanya N. Robak, Laurie A. Jongmans, Marjolijn C.J. Pfundt, Rolph Prasad, Chitra Berard, Roberta A. Fannemel, Madeleine Frengen, Eirik Misceo, Doriana Ramsey, Keri Yang, Yaping Schaaf, Christian P. Wang, Xia CAUSES, Study C4RCD, Research Group . The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Human Mutation. 2020, 41(10), 1738-1744
Human Mutation
Human Mutation
Autor:
Halperin, Rebecca F., Hegde, Apurva, Lang, Jessica D., Raupach, Elizabeth A., C4RCD Research Group, Narayanan, Vinodh, Huentelman, Matt, Belnap, Newell, Aziz, Anne-Marie, Ramsey, Keri, Legendre, Christophe, Liang, Winnie S., LoRusso, Patricia M., Sekulic, Aleksandar, Sosman, Jeffrey A., Trent, Jeffrey M., Rangasamy, Sampathkumar, Pirrotte, Patrick, Schork, Nicholas J.
Publikováno v:
Scientific Reports; 5/24/2021, Vol. 11 Issue 1, p1-15, 15p
Autor:
Olson, Heather, Jean-Marçais, Nolwenn, Yang, Edward, Héron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul, Bijlsma, Emilia, Krock, Bryan, Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke, Burglen, Lydie, Lesca, Gaetan, Cho, Megan, Smith, Lacey, Sheidley, Beth, Moufawad El Achkar, Christelle, Pearl, Phillip, Poduri, Annapurna, Skraban, Cara, Tarpinian, Jennifer, Nesbitt, Addie, Fransen van de Putte, Dietje, Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David, Waxler, Jessica, Wierenga, Klaas, DDD Study,, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri, C4RCD Research Group,, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frederic, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan, Schuurs-Hoeijmakers, Janneke, Brunner, Han, Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Publikováno v:
American Journal of Human Genetics, 102, 5, pp. 995-1007
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
American Journal of Human Genetics, 102(5), 995. Cell Press
American Journal of Human Genetics, 102(5), 995-1007. Cell Press
American Journal of Human Genetics, 102, 995-1007
American Journal of Human Genetics, 102(5), 995-1007
American Journal of Human Genetics, 102(5), 995-1007. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
American Journal of Human Genetics, 102(5), 995. Cell Press
American Journal of Human Genetics, 102(5), 995-1007. Cell Press
American Journal of Human Genetics, 102, 995-1007
American Journal of Human Genetics, 102(5), 995-1007
American Journal of Human Genetics, 102(5), 995-1007. CELL PRESS
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for decip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dde912b9337dc237e1fe52afa277ff3
https://hdl.handle.net/2066/191654
https://hdl.handle.net/2066/191654
Autor:
Wie, Jinhong, Bharthur, Apoorva, Wolfgang, Morgan, Narayanan, Vinodh, Ramsey, Keri, C4RCD Research Group, Belnap, Newell, Claasen, Ana, Courtright, Amanda, de Both, Matt, Huentelman, Matthew, Rangasamy, Sampathkumar, Richholt, Ryan, Schrauwen, Isabelle, Siniard, Ashley L., Szelinger, Szabolics, Aranda, Kimberly, Zhang, Qi, Zhou, Yandong, Ren, Dejian
Publikováno v:
Nature Communications; 7/3/2020, Vol. 11 Issue 1, p1-15, 15p
Autor:
Feyma, Timothy, Ramsey, Keri, Huentelman, Matthew J., Craig, David W., Padilla ‐ Lopez, Sergio, Narayanan, Vinodh, Kruer, Michael C., C4RCD Research Group, Padilla-Lopez, Sergio
Publikováno v:
Movement Disorders; Nov2016, Vol. 31 Issue 11, p1752-1753, 2p
Autor:
Ashley N. Sigafoos, Salima El Chehadeh, Marcia C. Willing, Ela Akay, Florian Cherik, Anne-Marie E. Goyette, Vinodh Narayanan, Diane Masser-Frye, Catherine Karimov, Rhonda E. Schnur, Rebekah Bressi, Rhys H. Thomas, Gary D. Clark, Tina Barbaro-Dieber, Jill A. Rosenfeld, Carlos A. Bacino, Maria J. Guillen Sacoto, Laura Russell, Kristin Lindstrom, Caroline Schluth-Bolard, Xia Wang, Yvonne Hilhorst-Hofstee, Marcelo Vargas, Zehua Zhu, Ash Zawerton, Boris Keren, Mariëtte J.V. Hoffer, Isabelle Marey, Alice Poisson, Daphné Lehalle, Maries Joseph, Gaetan Lesca, Simon Zwolinski, Laurence Perrin, Rhoda Akilapa, Emilia K. Bijlsma, Christel Depienne, Amélie Piton, Claire G. Salter, Lucie Dupuis, Daryl A. Scott, Jolien S. Klein Wassink-Ruiter, Benjamin Cogné, Mathilde Nizon, Richard Chang, Kirsty McWalter, Myriam Srour, Perrine Charles, Anne-Claude Tabet, Natalie Canham, Sylvie Odent, Caroline Nava, Karl J. Clark, Elizabeth J. Bhoj, Jonathan Levy, Keri Ramsey, Yves Alembik, Lucia Ortega, Sophie Dupuis-Girod, Shoji Ichikawa, Christine Francannet, Marta Bertoli, Christèle Dubourg, Eric W. Klee, Ange-Line Bruel, Sebastien Moutton, Emily Fassi, Anthony Vandersteen, Abdul Haseeb, Antonina Wojcik, Patrick R. Blackburn, Lynne M. Bird, Patrick Rump, Véronique Lefebvre, Alma Kuechler, Sophie Nambot, Keren Machol, Cyril Mignot, Andreas Hartmann, Rossana Sanchez Russo, Erica H. Gerkes, Sylvie Jaillard, Roberto Mendoza-Londono, Trevor Cole, Pauline Monin
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUP
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUP
International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fa