Diagnosing rare diseases after the exome

por Frésard, Laure, Montgomery, Stephen B.
Publicado 2018

Epigenetics and phenotypic variability: some interesting insights from birds

por Frésard, Laure, Morisson, Mireille, Brun, Jean-Michel, Collin, Anne, Pain, Bertrand, Minvielle, Francis, Pitel, Frédérique
Publicado 2013

Genome-Wide Characterization of RNA Editing in Chicken Embryos Reveals Common Features among Vertebrates

por Frésard, Laure, Leroux, Sophie, Roux, Pierre-François, Klopp, Christophe, Fabre, Stéphane, Esquerré, Diane, Dehais, Patrice, Djari, Anis, Gourichon, David, Lagarrigue, Sandrine, Pitel, Frédérique
Publicado 2015

The Extent of mRNA Editing Is Limited in Chicken Liver and Adipose, but Impacted by Tissular Context, Genotype, Age, and Feeding as Exemplified with a Conserved Edited Site in COG3

por Roux, Pierre-François, Frésard, Laure, Boutin, Morgane, Leroux, Sophie, Klopp, Christophe, Djari, Anis, Esquerré, Diane, Martin, Pascal GP, Zerjal, Tatiana, Gourichon, David, Pitel, Frédérique, Lagarrigue, Sandrine
Publicado 2015

Transcriptome-wide investigation of genomic imprinting in chicken

por Frésard, Laure, Leroux, Sophie, Servin, Bertrand, Gourichon, David, Dehais, Patrice, Cristobal, Magali San, Marsaud, Nathalie, Vignoles, Florence, Bed'hom, Bertrand, Coville, Jean-Luc, Hormozdiari, Farhad, Beaumont, Catherine, Zerjal, Tatiana, Vignal, Alain, Morisson, Mireille, Lagarrigue, Sandrine, Pitel, Frédérique
Publicado 2014

Fine mapping of complex traits in non-model species: using next generation sequencing and advanced intercross lines in Japanese quail

por Frésard, Laure, Leroux, Sophie, Dehais, Patrice, Servin, Bertrand, Gilbert, Hélène, Bouchez, Olivier, Klopp, Christophe, Cabau, Cédric, Vignoles, Florence, Feve, Katia, Ricros, Amélie, Gourichon, David, Diot, Christian, Richard, Sabine, Leterrier, Christine, Beaumont, Catherine, Vignal, Alain, Minvielle, Francis, Pitel, Frédérique
Publicado 2012

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases

por Corces, M. Ryan, Shcherbina, Anna, Kundu, Soumya, Gloudemans, Michael J., Frésard, Laure, Granja, Jeffrey M., Louie, Bryan H., Eulalio, Tiffany, Shams, Shadi, Bagdatli, S. Tansu, Mumbach, Maxwell R., Liu, Boxiang, Montine, Kathleen S., Greenleaf, William J., Kundaje, Anshul, Montgomery, Stephen B., Chang, Howard Y., Montine, Thomas J.
Publicado 2020

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C. H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

por Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J., Frésard, Laure, Jakubosky, David, D’Antonio, Matteo, Li, Xin, Ferraro, Nicole M., Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D., Cai, Na, Vakili, Dara, Horta, Danilo, Zhao, Chunli, Zastrow, Diane B., Bonner, Devon E., Wheeler, Matthew T., Kilpinen, Helena, Knowles, Joshua W., Smith, Erin N., Frazer, Kelly A., Montgomery, Stephen B., Stegle, Oliver
Publicado 2021

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

por Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.
Publicado 2019

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

por Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Waters, Katrina M., Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Yamamoto, Shinya, Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., Wheeler, Matthew T.
Publicado 2018