Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline

por Jiménez-Barrón, Laura T., O'Rawe, Jason A., Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J.
Publicado 2015

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

por Fang, Han, Wu, Yiyang, Yang, Hui, Yoon, Margaret, Jiménez-Barrón, Laura T., Mittelman, David, Robison, Reid, Wang, Kai, Lyon, Gholson J.
Publicado 2017

Reducing INDEL calling errors in whole genome and exome sequencing data

por Fang, Han, Wu, Yiyang, Narzisi, Giuseppe, O’Rawe, Jason A, Barrón, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Iossifov, Ivan, Schatz, Michael C, Lyon, Gholson J
Publicado 2014

Cell type and condition specific functional annotation of schizophrenia associated non-coding genetic variants

por Rummel, Christine K., Gagliardi, Miriam, Herholt, Alexander, Ahmad, Ruhel, Murek, Vanessa, Weigert, Liesa, Hausruckinger, Anna, Maidl, Susanne, Jimenez-Barron, Laura, Trastulla, Lucia, Eder, Mathias, Rossner, Moritz, Ziller, Michael J.
Publicado 2023

Distinct genetic liability profiles define clinically relevant patient strata across common diseases

por Trastulla, Lucia, Moser, Sylvain, Jiménez-Barrón, Laura T., Andlauer, Till F.M., von Scheidt, Moritz, Budde, Monika, Heilbronner, Urs, Papiol, Sergi, Teumer, Alexander, Homuth, Georg, Falkai, Peter, Völzke, Henry, Dörr, Marcus, Schulze, Thomas G., Gagneur, Julien, Iorio, Francesco, Müller-Myhsok, Bertram, Schunkert, Heribert, Ziller, Michael J.
Publicado 2023

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado 2015