Opportunities and challenges of whole-genome and -exome sequencing

por Petersen, Britt-Sabina, Fredrich, Broder, Hoeppner, Marc P., Ellinghaus, David, Franke, Andre
Publicado 2017

Identifying Crohn’s disease signal from variome analysis

por Wang, Yanran, Miller, Maximilian, Astrakhan, Yuri, Petersen, Britt-Sabina, Schreiber, Stefan, Franke, Andre, Bromberg, Yana
Publicado 2019

Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease

por Petersen, Britt-Sabina, Spehlmann, Martina E, Raedler, Andreas, Stade, Björn, Thomsen, Ingo, Rabionet, Raquel, Rosenstiel, Philip, Schreiber, Stefan, Franke, Andre
Publicado 2014

First known case of paediatric inflammatory bowel disease in a western lowland gorilla may be linked to a familial mutation in the MEFV gene

por Petersen, Britt-Sabina, Bokemeyer, Bernd, Wenker, Christian, Hoby, Stefan, Baumgartner, Katrin, Will, Hermann, Hoeppner, Marc P, Schreiber, Stefan, Mecklenburg, Ingo, Franke, Andre
Publicado 2020

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

por Lechowicz, Urszula, Gambin, Tomasz, Pollak, Agnieszka, Podgorska, Anna, Stawinski, Piotr, Franke, Andre, Petersen, Britt-Sabina, Firczuk, Malgorzata, Oldak, Monika, Skarzynski, Henryk, Ploski, Rafal
Publicado 2017

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing

por ElSharawy, Abdou, Forster, Michael, Schracke, Nadine, Keller, Andreas, Thomsen, Ingo, Petersen, Britt-Sabina, Stade, Björn, Stähler, Peer, Schreiber, Stefan, Rosenstiel, Philip, Franke, Andre
Publicado 2012

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway

por Andreoletti, Gaia, Shakhnovich, Valentina, Christenson, Kathy, Coelho, Tracy, Haggarty, Rachel, Afzal, Nadeem A, Batra, Akshay, Petersen, Britt-Sabina, Mort, Matthew, Beattie, R. Mark, Ennis, Sarah
Publicado 2017

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

por Shalash, Ali S., Rösler, Thomas W., Müller, Stefanie H., Salama, Mohamed, Deuschl, Günther, Müller, Ulrich, Opladen, Thomas, Petersen, Britt-Sabina, Franke, Andre, Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U.
Publicado 2017

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

por Schlechter, Nikola, Glanzmann, Brigitte, Hoal, Eileen Garner, Schoeman, Mardelle, Petersen, Britt-Sabina, Franke, Andre, Lau, Yu-Lung, Urban, Michael, van Helden, Paul David, Esser, Monika Maria, Möller, Marlo, Kinnear, Craig
Publicado 2017

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

por Forster, Michael, Forster, Peter, Elsharawy, Abdou, Hemmrich, Georg, Kreck, Benjamin, Wittig, Michael, Thomsen, Ingo, Stade, Björn, Barann, Matthias, Ellinghaus, David, Petersen, Britt-Sabina, May, Sandra, Melum, Espen, Schilhabel, Markus B., Keller, Andreas, Schreiber, Stefan, Rosenstiel, Philip, Franke, Andre
Publicado 2013

New insights into the genetics of glioblastoma multiforme by familial exome sequencing

por Backes, Christina, Harz, Christian, Fischer, Ulrike, Schmitt, Jana, Ludwig, Nicole, Petersen, Britt-Sabina, Mueller, Sabine C., Kim, Yoo-Jin, Wolf, Nadine M., Katus, Hugo A., Meder, Benjamin, Furtwängler, Rhoikos, Franke, Andre, Bohle, Rainer, Henn, Wolfram, Graf, Norbert, Keller, Andreas, Meese, Eckart
Publicado 2014

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

por Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S
Publicado 2016

Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

por Taudien, Stefan, Lausser, Ludwig, Giamarellos-Bourboulis, Evangelos J., Sponholz, Christoph, Schöneweck, Franziska, Felder, Marius, Schirra, Lyn-Rouven, Schmid, Florian, Gogos, Charalambos, Groth, Susann, Petersen, Britt-Sabina, Franke, Andre, Lieb, Wolfgang, Huse, Klaus, Zipfel, Peter F., Kurzai, Oliver, Moepps, Barbara, Gierschik, Peter, Bauer, Michael, Scherag, André, Kestler, Hans A., Platzer, Matthias
Publicado 2016

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

por Lipinski, Simone, Petersen, Britt-Sabina, Barann, Matthias, Piecyk, Agnes, Tran, Florian, Mayr, Gabriele, Jentzsch, Marlene, Aden, Konrad, Stengel, Stephanie T., Klostermeier, Ulrich C., Sheth, Vrunda, Ellinghaus, David, Rausch, Tobias, Korbel, Jan O., Nothnagel, Michael, Krawczak, Michael, Gilissen, Christian, Veltman, Joris A., Forster, Michael, Forster, Peter, Lee, Clarence C., Fritscher-Ravens, Annette, Schreiber, Stefan, Franke, Andre, Rosenstiel, Philip
Publicado 2019

Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations

por Schubert, Desirée, Bode, Claudia, Kenefeck, Rupert, Hou, Tie Zheng, Wing, James B., Kennedy, Alan, Bulashevska, Alla, Petersen, Britt-Sabina, Schäffer, Alejandro A., Grüning, Björn A., Unger, Susanne, Frede, Natalie, Baumann, Ulrich, Witte, Torsten, Schmidt, Reinhold E., Dueckers, Gregor, Niehues, Tim, Seneviratne, Suranjith, Kanariou, Maria, Speckmann, Carsten, Ehl, Stephan, Rensing-Ehl, Anne, Warnatz, Klaus, Rakhmanov, Mirzokhid, Thimme, Robert, Hasselblatt, Peter, Emmerich, Florian, Cathomen, Toni, Backofen, Rolf, Fisch, Paul, Seidl, Maximilian, May, Annette, Schmitt-Graeff, Annette, Ikemizu, Shinji, Salzer, Ulrich, Franke, Andre, Sakaguchi, Shimon, Walker, Lucy S.K., Sansom, David M., Grimbacher, Bodo
Publicado 2014

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
Publicado 2018

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

por Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd, Bethge, Johannes, Heap, Graham, Ahmad, Tariq, Plagnol, Vincent, Segal, Anthony W., Targan, Stephan, Turner, Dan, Saavalainen, Paivi, Farkkila, Martti, Kontula, Kimmo, Palotie, Aarno, Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Rioux, John D., Weersma, Rinse K., Franke, Andre, Jostins, Luke, Anderson, Carl A., Barrett, Jeffrey C., MacArthur, Daniel G., Jalas, Chaim, Sokol, Harry, Xavier, Ramnik J., Pulver, Ann, Cho, Judy H., McGovern, Dermot P. B., Daly, Mark J.
Publicado 2019