Predicting the pathogenicity of missense variants using features derived from AlphaFold2

por Schmidt, Axel, Röner, Sebastian, Mai, Karola, Klinkhammer, Hannah, Kircher, Martin, Ludwig, Kerstin U
Publicado 2023

Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data

por Siewert, Anna, Reiz, Benedikt, Krug, Carina, Heggemann, Julia, Mangold, Elisabeth, Dickten, Henning, Ludwig, Kerstin U.
Publicado 2023

Properties of permutation-based gene tests and controlling type 1 error using a summary statistic based gene test

por Swanson, David M, Blacker, Deborah, AlChawa, Taofik, Ludwig, Kerstin U, Mangold, Elisabeth, Lange, Christoph
Publicado 2013

The complete mitochondrial genome of the ‘solar-powered’ sea slug Plakobranchus cf. ocellatus (Heterobranchia: Panpulmonata: Sacoglossa)

por Greve, Carola, Ruiz-Tagle Lui, Maximiliano, Sivalingam, Sugirthan, Ludwig, Kerstin U., Wägele, Heike, Donath, Alexander
Publicado 2017

Allele-specific transcription factor binding in a cellular model of orofacial clefting

por Ruff, Katharina L. M., Hollstein, Ronja, Fazaal, Julia, Thieme, Frederic, Gehlen, Jan, Mangold, Elisabeth, Knapp, Michael, Welzenbach, Julia, Ludwig, Kerstin U.
Publicado 2022

‘Location, Location, Location’: a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate

por Fier, Heide, Won, Sungho, Prokopenko, Dmitry, AlChawa, Taofik, Ludwig, Kerstin U., Fimmers, Rolf, Silverman, Edwin K., Pagano, Marcello, Mangold, Elisabeth, Lange, Christoph
Publicado 2012

p63 establishes epithelial enhancers at critical craniofacial development genes

por Lin-Shiao, Enrique, Lan, Yemin, Welzenbach, Julia, Alexander, Katherine A., Zhang, Zhen, Knapp, Michael, Mangold, Elisabeth, Sammons, Morgan, Ludwig, Kerstin U., Berger, Shelley L.
Publicado 2019

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms

por Howe, Laurence J., Hemani, Gibran, Lesseur, Corina, Gaborieau, Valérie, Ludwig, Kerstin U., Mangold, Elisabeth, Brennan, Paul, Ness, Andy R., St Pourcain, Beate, Davey Smith, George, Lewis, Sarah J.
Publicado 2020

Iron Deficiency Caused by Intestinal Iron Loss—Novel Candidate Genes for Severe Anemia

por Huettmann, Carolina, Stelljes, Matthias, Sivalingam, Sugirthan, Fobker, Manfred, Vrachimis, Alexis, Exler, Anne, Wenning, Christian, Wempe, Carola, Penke, Matthias, Buness, Andreas, Ludwig, Kerstin U., Muckenthaler, Martina U., Steinbicker, Andrea U.
Publicado 2021

Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

por Welzenbach, Julia, Hammond, Nigel L., Nikolić, Miloš, Thieme, Frederic, Ishorst, Nina, Leslie, Elizabeth J., Weinberg, Seth M., Beaty, Terri H., Marazita, Mary L., Mangold, Elisabeth, Knapp, Michael, Cotney, Justin, Rada-Iglesias, Alvaro, Dixon, Michael J., Ludwig, Kerstin U.
Publicado 2021

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

por Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.
Publicado 2022

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

por Schmidt, Axel, Peters, Sophia, Knaus, Alexej, Sabir, Hemmen, Hamsen, Frauke, Maj, Carlo, Fazaal, Julia, Sivalingam, Sugirthan, Savchenko, Oleksandr, Mantri, Aakash, Holzinger, Dirk, Neudorf, Ulrich, Müller, Andreas, Ludwig, Kerstin U., Krawitz, Peter M., Engels, Hartmut, Nöthen, Markus M., Bagci, Soyhan
Publicado 2021

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

por Dunkhase, Eva, Ludwig, Kerstin U., Knapp, Michael, Skibola, Christine F., Figueiredo, Jane C., Hosking, Fay Julie, Ellinghaus, Eva, Landi, Maria Teresa, Ma, Hongxia, Nakagawa, Hidewaki, Kim, Jong-Won, Han, Jiali, Yang, Ping, Böhmer, Anne C., Mattheisen, Manuel, Nöthen, Markus M., Mangold, Elisabeth
Publicado 2016

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

por Howe, Laurence J., Lee, Myoung Keun, Sharp, Gemma C., Davey Smith, George, St Pourcain, Beate, Shaffer, John R., Ludwig, Kerstin U., Mangold, Elisabeth, Marazita, Mary L., Feingold, Eleanor, Zhurov, Alexei, Stergiakouli, Evie, Sandy, Jonathan, Richmond, Stephen, Weinberg, Seth M., Hemani, Gibran, Lewis, Sarah J.
Publicado 2018

Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study

por Dardani, Christina, Howe, Laurence J, Mukhopadhyay, Nandita, Stergiakouli, Evie, Wren, Yvonne, Humphries, Kerry, Davies, Amy, Ho, Karen, Weinberg, Seth M, Marazita, Mary L, Mangold, Elisabeth, Ludwig, Kerstin U, Relton, Caroline L, Davey Smith, George, Lewis, Sarah J, Sandy, Jonathan, Davies, Neil M, Sharp, Gemma C
Publicado 2020

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

por Ludwig, Kerstin U., Böhmer, Anne C., Bowes, John, Nikolić, Miloš, Ishorst, Nina, Wyatt, Niki, Hammond, Nigel L., Gölz, Lina, Thieme, Frederic, Barth, Sandra, Schuenke, Hannah, Klamt, Johanna, Spielmann, Malte, Aldhorae, Khalid, Rojas-Martinez, Augusto, Nöthen, Markus M., Rada-Iglesias, Alvaro, Dixon, Michael J., Knapp, Michael, Mangold, Elisabeth
Publicado 2017

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate

por Howe, Laurence J, Richardson, Tom G, Arathimos, Ryan, Alvizi, Lucas, Passos-Bueno, Maria R, Stanier, Philip, Nohr, Ellen, Ludwig, Kerstin U, Mangold, Elisabeth, Knapp, Michael, Stergiakouli, Evie, Pourcain, Beate St, Smith, George Davey, Sandy, Jonathan, Relton, Caroline L, Lewis, Sarah J, Hemani, Gibran, Sharp, Gemma C
Publicado 2019

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

por Köllges, Ricarda, Stegmann, Jil, Schneider, Sophia, Waffenschmidt, Lea, Fazaal, Julia, Breuer, Katinka, Hilger, Alina C., Dworschak, Gabriel C., Mingardo, Enrico, Rösch, Wolfgang, Hofmann, Aybike, Neissner, Claudia, Ebert, Anne-Karolin, Stein, Raimund, Younsi, Nina, Hirsch-Koch, Karin, Schmiedeke, Eberhard, Zwink, Nadine, Jenetzky, Ekkehart, Thiele, Holger, Ludwig, Kerstin U., Reutter, Heiko
Publicado 2023

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

por Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M., Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M., Mangold, Elisabeth, Heilmann, Stefanie, Ludwig, Kerstin U., Jenetzky, Ekkehart, Zwink, Nadine, Moebus, Susanne, Herrmann, Bernhard G., Mattheisen, Manuel, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko
Publicado 2015

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative G...

por Ludwig, Kerstin U., Ahmed, Syeda Tasnim, Böhmer, Anne C., Sangani, Nasim Bahram, Varghese, Sheryil, Klamt, Johanna, Schuenke, Hannah, Gültepe, Pinar, Hofmann, Andrea, Rubini, Michele, Aldhorae, Khalid Ahmed, Steegers-Theunissen, Regine P., Rojas-Martinez, Augusto, Reiter, Rudolf, Borck, Guntram, Knapp, Michael, Nakatomi, Mitsushiro, Graf, Daniel, Mangold, Elisabeth, Peters, Heiko
Publicado 2016