Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Elizabeth K Ruzzo"'
Autor:
Kimberly Pelak, Kevin V Shianna, Dongliang Ge, Jessica M Maia, Mingfu Zhu, Jason P Smith, Elizabeth T Cirulli, Jacques Fellay, Samuel P Dickson, Curtis E Gumbs, Erin L Heinzen, Anna C Need, Elizabeth K Ruzzo, Abanish Singh, C Ryan Campbell, Linda K Hong, Katharina A Lornsen, Alexander M McKenzie, Nara L M Sobreira, Julie E Hoover-Fong, Joshua D Milner, Ruth Ottman, Barton F Haynes, James J Goedert, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 6, Iss 9, p e1001111 (2010)
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A
Externí odkaz:
https://doaj.org/article/11d35ff706624861ad364c3bc6c9cd73
Autor:
Timothy S Chang, Matilde Cirnigliaro, Stephanie A Arteaga, Laura Pérez-Cano, Elizabeth K Ruzzo, Aaron Gordon, Lucy Bicks, Jae-Yoon Jung, Jennifer K Lowe, Dennis P Wall, Daniel H Geschwind
Autism Spectrum Disorder (ASD) has a complex genetic architecture involving contributions from de novo and inherited variation. Few studies have been designed to address the role of rare inherited variation, or its interaction with polygenic risk in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d974e59b7402660c1def72bdd8c18d2
https://doi.org/10.1101/2022.04.05.22273459
https://doi.org/10.1101/2022.04.05.22273459
Autor:
Samuel F. Berkovic, Andrew Bleasel, Hadassa Goldberg-Stern, Bronwyn E. Grinton, Sara Kivity, Leanne M. Dibbens, Elizabeth K. Ruzzo, John A. Damiano, Lata Vadlamudi, Zaid Afawi, Georgie C. Glubb, Jodie P. Malone, Rosemary Burgess, Padraic Grattan-Smith, Yue-Hua Zhang, Danya F. Vears, Katherine L. Helbig, Amos D. Korczyn, Ingrid E. Scheffer, Susannah T. Bellows, Michael S. Hildebrand
Publikováno v:
Neurology. 89:1210-1219
Objective:Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum.Methods:We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18390db2eb361bf30fba2f9cd97e9d43
https://doi.org/10.1212/wnl.0000000000004384
https://doi.org/10.1212/wnl.0000000000004384
Autor:
Jin Xu, Chanpreet Singh, Kelley Paskov, Olivia Leventhal, Jae-Yoon Jung, Christopher Hartl, Damon Polioudakis, Lee-kai Wang, Virpi Leppa, David A. Prober, Michael J. Gandal, Elizabeth K. Ruzzo, Dennis P. Wall, Daniel H. Geschwind, Jennifer K. Lowe, Jackson N Hoekstra, Dorna Kashef-Haghighi, Nate Tyler Stockham, Laura Pérez-Cano
Publikováno v:
Cell
Cell, vol 178, iss 4
Cell, vol 178, iss 4
We performed a comprehensive assessment of rare inherited variation in autism spectrum disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families with multiple affected children. We implicate 69 genes in ASD risk, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10032f4781afc8e4e361eb6ad6c4083
https://resolver.caltech.edu/CaltechAUTHORS:20190808-135241284
https://resolver.caltech.edu/CaltechAUTHORS:20190808-135241284
Autor:
Elizabeth K. Ruzzo, William E. Lowry, Daning Lu, Jason L. Stein, Damon Polioudakis, Luis de la Torre-Ubieta, Shan Sabri, Justin Langerman, Celine K. Vuong, Tarik Hadzic, Kathrin Plath, Daniel H. Geschwind, Carli K. Opland, Jennifer K. Lowe, Flora I. Hinz, Andrew G. Elkins, William Connell
Defining the number, proportion, or lineage of distinct cell types in the developing human brain is an important goal of modern brain research. We defined single cell transcriptomic profiles for 40,000 cells at mid-gestation to identify cell types in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76523aac7be154f3db2016ccfbf6e767
https://doi.org/10.1101/401885
https://doi.org/10.1101/401885
Autor:
Michael J. Gandal, Nate Tyler Stockham, Olivia Leventhal, Daniel H. Geschwind, Elizabeth K. Ruzzo, Damon Polioudakis, Christopher Hartl, Jennifer K. Lowe, Jae-Yoon Jung, Jackson N Hoekstra, Kelley Paskov, Dennis P. Wall, Laura Pérez-Cano, Dorna Kashef-Haghighi, Lee-kai Wang
Genetic studies of autism spectrum disorder (ASD) have revealed a complex, heterogeneous architecture, in which the contribution of rare inherited variation remains relatively un-explored. We performed whole-genome sequencing (WGS) in 2,308 individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d059bf97ae266c82dd4545f16bb2b9
Autor:
Jae-Yoon Jung, Lee-kai Wang, Daniel H. Geschwind, Dorna Kashef-Haghighi, Elizabeth K. Ruzzo, Christopher Hartl, David A. Prober, Jennifer K. Lowe, Laura Pérez-Cano, Dennis P. Wall
Publikováno v:
European Neuropsychopharmacology. 29:S35-S36
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0722e0e33ccaf3f9443fdba77b92ef02
https://doi.org/10.1016/j.euroneuro.2019.07.072
https://doi.org/10.1016/j.euroneuro.2019.07.072
Autor:
Eran Eyal, Ortal Barel, E. Ganelin-Cohen, Chen Hoffmann, Andreea Nissenkorn, Gali Heimer, Elon Pras, Doron Lancet, G. Rechavi, Yair Anikster, David Goldstein, D. Marek-Yagel, D. Oz Levi, B. Ben Zeev, Elizabeth K. Ruzzo
Publikováno v:
Clinical Genetics. 88:327-335
Two unrelated patients, presenting with significant global developmental delay, severe progressive microcephaly, seizures, spasticity and thin corpus callosum (CC) underwent trio whole-exome sequencing. No candidate variant was found in any known gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf0a90137a8ace3ffbf39f907d112062
https://doi.org/10.1111/cge.12637
https://doi.org/10.1111/cge.12637
Autor:
Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo
Publikováno v:
The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621084f9d64cf23e269c01040b9b090
https://pubmed.ncbi.nlm.nih.gov/25262651
https://pubmed.ncbi.nlm.nih.gov/25262651