Evaluating information content of SNPs for sample-tagging in re-sequencing projects

por Hu, Hao, Liu, Xiang, Jin, Wenfei, Hilger Ropers, H, Wienker, Thomas F
Publicado 2015

Linkage analysis of alcohol dependence using MOD scores

por Strauch, Konstantin, Fürst, Robert, Rüschendorf, Franz, Windemuth, Christine, Dietter, Johannes, Flaquer, Antonia, Baur, Max P, Wienker, Thomas F
Publicado 2005

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

por Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F., Ropers, H. Hilger, Najmabadi, Hossein
Publicado 2015

VarWatch—A stand-alone software tool for variant matching

por Fredrich, Broder, Schmöhl, Marcus, Junge, Olaf, Gundlach, Sven, Ellinghaus, David, Pfeufer, Arne, Bettecken, Thomas, Siddiqui, Roman, Franke, Andre, Wienker, Thomas F., Hoeppner, Marc P., Krawczak, Michael
Publicado 2019

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

por Hartmann, Bianca, Wai, Timothy, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Björn, Stenzel, Werner, Gräf, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Langer, Thomas, Kaindl, Angela M
Publicado 2016

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

por Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Publicado 2013

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

por Stanke, Frauke, Becker, Tim, Kumar, Vinod, Hedtfeld, Silke, Becker, Christian, Cuppens, Harry, Tamm, Stephanie, Yarden, Jennifer, Laabs, Ulrike, Siebert, Benny, Fernandez, Luis, Macek, Milan, Radojkovic, Dragica, Ballmann, Manfred, Greipel, Joachim, Cassiman, Jean-Jacques, Wienker, Thomas F, Tümmler, Burkhard
Publicado 2010

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

por Ravindran, Ethiraj, Hu, Hao, Yuzwa, Scott A., Hernandez-Miranda, Luis R., Kraemer, Nadine, Ninnemann, Olaf, Musante, Luciana, Boltshauser, Eugen, Schindler, Detlev, Hübner, Angela, Reinecker, Hans-Christian, Ropers, Hans-Hilger, Birchmeier, Carmen, Miller, Freda D., Wienker, Thomas F., Hübner, Christoph, Kaindl, Angela M.
Publicado 2017

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

por Hu, Hao, Matter, Michelle L, Issa-Jahns, Lina, Jijiwa, Mayumi, Kraemer, Nadine, Musante, Luciana, de la Vega, Michelle, Ninnemann, Olaf, Schindler, Detlev, Damatova, Natalia, Eirich, Katharina, Sifringer, Marco, Schrötter, Sandra, Eickholt, Britta J, van den Heuvel, Lambert, Casamina, Chanel, Stoltenburg-Didinger, Gisela, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M
Publicado 2014

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

por Hüffmeier, Ulrike, Uebe, Steffen, Ekici, Arif B., Bowes, John, Giardina, Emiliano, Korendowych, Eleanor, Juneblad, Kristina, Apel, Maria, McManus, Ross, Ho, Pauline, Bruce, Ian N., Ryan, Anthony W., Behrens, Frank, Lascorz, Jesús, Böhm, Beate, Traupe, Heiko, Lohmann, Jörg, Gieger, Christian, Wichmann, Heinz-Erich, Herold, Christine, Steffens, Michael, Klareskog, Lars, Wienker, Thomas F., FitzGerald, Oliver, Alenius, Gerd-Marie, McHugh, Neil J., Novelli, Giuseppe, Burkhardt, Harald, Barton, Anne, Reis, André
Publicado 2010

Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-ba...

por Fransen, Erik, Topsakal, Vedat, Hendrickx, Jan-Jaap, Van Laer, Lut, Huyghe, Jeroen R., Van Eyken, Els, Lemkens, Nele, Hannula, Samuli, Mäki-Torkko, Elina, Jensen, Mona, Demeester, Kelly, Tropitzsch, Anke, Bonaconsa, Amanda, Mazzoli, Manuela, Espeso, Angeles, Verbruggen, Katia, Huyghe, Joke, Huygen, Patrick L. M., Kunst, Sylvia, Manninen, Minna, Diaz-Lacava, Amalia, Steffens, Michael, Wienker, Thomas F., Pyykkö, Ilmari, Cremers, Cor W. R. J., Kremer, Hannie, Dhooge, Ingeborg, Stephens, Dafydd, Orzan, Eva, Pfister, Markus, Bille, Michael, Parving, Agnete, Sorri, Martti, Van de Heyning, Paul, Van Camp, Guy
Publicado 2008

Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

por Rautanen, Anna, Mills, Tara C, Gordon, Anthony C, Hutton, Paula, Steffens, Michael, Nuamah, Rosamond, Chiche, Jean-Daniel, Parks, Tom, Chapman, Stephen J, Davenport, Emma E, Elliott, Katherine S, Bion, Julian, Lichtner, Peter, Meitinger, Thomas, Wienker, Thomas F, Caulfield, Mark J, Mein, Charles, Bloos, Frank, Bobek, Ilona, Cotogni, Paolo, Sramek, Vladimir, Sarapuu, Silver, Kobilay, Makbule, Ranieri, V Marco, Rello, Jordi, Sirgo, Gonzalo, Weiss, Yoram G, Russwurm, Stefan, Schneider, E Marion, Reinhart, Konrad, Holloway, Paul A H, Knight, Julian C, Garrard, Chris S, Russell, James A, Walley, Keith R, Stüber, Frank, Hill, Adrian V S, Hinds, Charles J
Publicado 2015