Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

por Eck, Sebastian H, Benet-Pagès, Anna, Flisikowski, Krzysztof, Meitinger, Thomas, Fries, Ruedi, Strom, Tim M
Publicado 2009

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

por Hallermayr, Ariane, Graf, Janine, Koehler, Udo, Laner, Andreas, Schönfeld, Brigitte, Benet‐Pagès, Anna, Holinski‐Feder, Elke
Publicado 2018

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes

por Diebold, Isabel, Schön, Ulrike, Scharf, Florentine, Benet‐Pagès, Anna, Laner, Andreas, Holinski‐Feder, Elke, Abicht, Angela
Publicado 2020

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method

por Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski‐Feder, Elke, Horvath, Rita, Benet‐Pagès, Anna, Diebold, Isabel
Publicado 2018

CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters

por Bergbauer, Martin, Kalla, Markus, Schmeinck, Anne, Göbel, Christine, Rothbauer, Ulrich, Eck, Sebastian, Benet-Pagès, Anna, Strom, Tim M., Hammerschmidt, Wolfgang
Publicado 2010

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

por Schön, Ulrike, Holzer, Anna, Laner, Andreas, Kleinle, Stephanie, Scharf, Florentine, Benet-Pagès, Anna, Peschel, Oliver, Holinski-Feder, Elke, Diebold, Isabel
Publicado 2021

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

por Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi
Publicado 2013

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

por Hallermayr, Ariane, Wohlfrom, Tobias, Steinke-Lange, Verena, Benet-Pagès, Anna, Scharf, Florentine, Heitzer, Ellen, Mansmann, Ulrich, Haberl, Christopher, de Wit, Maike, Vogelsang, Holger, Rentsch, Markus, Holinski-Feder, Elke, Pickl, Julia M. A.
Publicado 2022

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

por Rump, Andreas, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavičius, Ramūnas, Macháčková, Eva, Foretová, Lenka, Kleibl, Zdenek, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schröck, Evelin, Klink, Barbara
Publicado 2016

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

por Kleinle, Stephanie, Scholz, Veronika, Benet-Pagés, Anna, Wohlfrom, Tobias, Gehling, Stefanie, Scharf, Florentine, Rost, Simone, Prott, Eva-Christina, Grinzinger, Susanne, Hotter, Anna, Haug, Verena, Niemeier, Sabine, Wiethoff-Ubrig, Lucia, Hagenacker, Tim, Goldhahn, Klaus, von Moers, Arpad, Walter, Maggie C., Reilich, Peter, Eggermann, Katja, Kraft, Florian, Kurth, Ingo, Erdmann, Hannes, Holinski-Feder, Elke, Neuhann, Teresa, Abicht, Angela
Publicado 2023

The UCSC Genome Browser database: 2021 update

por Navarro Gonzalez, Jairo, Zweig, Ann S, Speir, Matthew L, Schmelter, Daniel, Rosenbloom, Kate R, Raney, Brian J, Powell, Conner C, Nassar, Luis R, Maulding, Nathan D, Lee, Christopher M, Lee, Brian T, Hinrichs, Angie S, Fyfe, Alastair C, Fernandes, Jason D, Diekhans, Mark, Clawson, Hiram, Casper, Jonathan, Benet-Pagès, Anna, Barber, Galt P, Haussler, David, Kuhn, Robert M, Haeussler, Maximilian, Kent, W James
Publicado 2020

The UCSC Genome Browser database: 2022 update

por Lee, Brian T, Barber, Galt P, Benet-Pagès, Anna, Casper, Jonathan, Clawson, Hiram, Diekhans, Mark, Fischer, Clay, Gonzalez, Jairo Navarro, Hinrichs, Angie S, Lee, Christopher M, Muthuraman, Pranav, Nassar, Luis R, Nguy, Beagan, Pereira, Tiana, Perez, Gerardo, Raney, Brian J, Rosenbloom, Kate R, Schmelter, Daniel, Speir, Matthew L, Wick, Brittney D, Zweig, Ann S, Haussler, David, Kuhn, Robert M, Haeussler, Maximilian, Kent, W James
Publicado 2021

The UCSC Genome Browser database: 2023 update

por Nassar, Luis R, Barber, Galt P, Benet-Pagès, Anna, Casper, Jonathan, Clawson, Hiram, Diekhans, Mark, Fischer, Clay, Gonzalez, Jairo Navarro, Hinrichs, Angie S, Lee, Brian T, Lee, Christopher M, Muthuraman, Pranav, Nguy, Beagan, Pereira, Tiana, Nejad, Parisa, Perez, Gerardo, Raney, Brian J, Schmelter, Daniel, Speir, Matthew L, Wick, Brittney D, Zweig, Ann S, Haussler, David, Kuhn, Robert M, Haeussler, Maximilian, Kent, W James
Publicado 2022