The characterization of twenty sequenced human genomes.

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

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

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

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

Genetics

Autor: Elizabeth K. Ruzzo, Rodney A. Radtke, David B. Goldstein, Erin L. Heinzen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::636f438f765227f2f99947142684bd01
https://doi.org/10.1891/9781617051876.0002

INHERITED AND DE NOVO GENETIC RISK FOR AUTISM IMPACTS SHARED BIOLOGICAL NETWORKS

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

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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

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