Publications of Thomas F. Wienker

Journal Article (30)

1.
Journal Article
Stellmach, C.; Sass, J.; Auber, B.; Boeker, M.; Wienker, T. F.; Heidel, A. J.; Benary, M.; Schumacher, S.; Ossowski, S.; Klauschen, F. et al.; Möller , Y.; Schmutzler, R.; Ustjanzew, A.; Werner, P.; Tomczak, A.; Hölter, T.; Thun, S.: Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide. Journal of the American Medical Informatics Association, ocad061 (2023)
2.
Journal Article
Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M.; Oppitz, C.; Abedini, S. S.; Suckow, V.; Farzaneh, L. et al.; Beheshtian, M.; Lipkowitz, B.; Akhtarkhavari, T.; Mehvari, S.; Otto, S.; Mohseni, M.; Arzhangi, S.; Jamali, P.; Mojahedi, F.; Taghdiri, M.; Papari, E.; Soltani Banavandi, M. J.; Akbari, S.; Tonekaboni, S. H.; Dehghani, H.; Ebrahimpou, M. R.; Bader, I.; Davarnia, B.; Cohen, M.; Khodaei, H.; Albrecht, B.; Azimi, S.; Zirn, B.; Bastami, M.; Wieczorek, D.; Bahrami, G.; Keleman, K.; Vahid, L. N.; Timmermann, B.; Pourfatemi, F.; Jankhah, A.; Chen, W.; Nikuei, P.; Kalscheuer, V. M.; Oladnabi, M.; Wienker, T. F.; Ropers, H.-H.; Najmabadi, H.: Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 24 (7), pp. 1027 - 1039 (2019)
3.
Journal Article
Broder, F.; Marcus, S.; Junge, O.; Gundlach, S.; Ellinghaus, D.; Pfeufer, A.; Bettecken, T.; Siddiqui, R.; Franke, A.; Wienker, T. F. et al.; Hoeppner, M. P.; Krawczak, M.: VarWatch-A stand-alone software tool for variant matching. PLoS One 14 (4), e0215618 (2019)
4.
Journal Article
Kahrizi, K.; Hu, H.; Hosseini, M.; Kalscheuer, V. M.; Fattahi, Z.; Beheshtian, M.; Suckow, V.; Mohseni, M.; Lipkowitz, B.; Mehvari, S. et al.; Mehrjoo, Z.; Akhtarkhavari, T.; Ghaderi, Z.; Rahimi, M.; Arzhangi, S.; Jamali, P.; Falahat Chian, M.; Nikuei , P.; Sabbagh Kermani, F.; Sadeghinia, F.; Jazayeri , R.; Tonekaboni, S. H.; Khoshaeen, A.; Habibi, H.; Pourfatemi, F.; Mojahedi , F.; Khodaie‐Ardakani, M.; Najafipour, R.; Wienker, T. F.; Najmabadi , H.; Ropers, H.-H.: Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), pp. 151 - 159 (2019)
5.
Journal Article
Fattahi, Z.; Sheikh, T. I.; Musante, L.; Rasheed, M.; Taskiran, I.; Harripaul, R.; Hu, H.; Kazeminasab, S.; Alam, M. R.; Hosseini, M. et al.; Larti, F.; Ghaderi, Z.; Celik, A.; Ayub, M.; Ansar, M.; Haddadi, M.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Vincent, J. B.; Najmabadi, H.: Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet 27 (18), pp. 3177 - 3188 (2018)
6.
Journal Article
Musante, L.; Püttmann, L.; Kahrizi, K.; Garshasbi, M.; Hu, H.; Stehr, H.; Lipkowitz, B.; Otto, S.; Jensen, L. R.; Tzschach, A. et al.; Jamali, P.; Wienker, T. F.; Najmabadi, H.; Ropers, H. H.; Kuss, A. W.: Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Human Mutations 38 (6), pp. 621 - 636 (2017)
7.
Journal Article
Ravindran, E.; Hu, H.; Yuzwa, S. A.; Hernandez-Miranda, L. R.; Kraemer, N.; Ninnemann, O.; Musante, L.; Boltshauser, E.; Schindler, D.; Hübner, A. et al.; Reinecker, H. C.; Ropers, H. H.; Birchmeier, C.; Miller, F. D.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics 13 (4), e1006746 (2017)
8.
Journal Article
Hu, H.; Hübner, C.; Lukacs, Z.; Musante, L.; Gill, E.; Wienker, T. F.; Ropers, H. H.; Knierim, E.; Schuelke, M.: Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics 25 (2), pp. 253 - 256 (2017)
9.
Journal Article
Iqbal, Z.; Püttmann, L.; Musante, L.; Razzaq, A.; Zahoor, M. Y.; Hu, H.; Wienker, T. F.; Garshasbi, M.; Fattahi, Z.; Gilissen, C. et al.; Vissers, L. E.; de Brouwer, A. P.; Veltman, J. A.; Pfundt, R.; Najmabadi, H.; Ropers, H. H.; Riazuddin, S.; Kahrizi, K.; van Bokhoven, H.: Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 24 (3), pp. 392 - 399 (2016)
10.
Journal Article
Hartmann, B.; Wai, T.; Hu, H.; MacVicar, T.; Musante, L.; Fischer-Zirnsak, B.; Stenzel, W.; Graf, R.; van den Heuvel, L.; Ropers, H. H. et al.; Wienker, T. F.; Hübner, C.; Langer, T.; Kaindl, A. M.: Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife 5, e16078 (2016)
11.
Journal Article
Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F. et al.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A.-K.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M.-P.; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; van Bömmel, A.; Göke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Müller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bieleńska, A.; Ousager, L. B.; Wieacker, P.; Rodríguez Criado, G.; Bondeson, M.-L.; Annerén, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J.-P.; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H.-H.; Kalscheuer, V. M.: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 21 (1), pp. 133 - 148 (2016)
12.
Journal Article
Ropers, H. H.; Wienker, T. F.: Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 58 (12), pp. 715 - 718 (2015)
13.
Journal Article
Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), pp. 1308 - 1317 (2015)
14.
Journal Article
Maass, P. G.; Aydin, A.; Luft, F. C.; Schachterle, C.; Weise, A.; Stricker, S.; Lindschau, C.; Vaegler, M.; Qadri, F.; Toka, H. R. et al.; Schulz, H.; Krawitz, P. M.; Parkhomchuk, D.; Hecht, J.; Hollfinger, I.; Wefeld-Neuenfeld, Y.; Bartels-Klein, E.; Muhl, A.; Kann, M.; Schuster, H.; Chitayat, D.; Bialer, M. G.; Wienker, T. F.; Ott, J.; Rittscher, K.; Liehr, T.; Jordan, J.; Plessis, G.; Tank, J.; Mai, K.; Naraghi, R.; Hodge, R.; Hopp, M.; Hattenbach, L. O.; Busjahn, A.; Rauch, A.; Vandeput, F.; Gong, M.; Ruschendorf, F.; Hübner, N.; Haller, H.; Mundlos, S.; Bilginturan, N.; Movsesian, M. A.; Klussmann, E.; Toka, O.; Bahring, S.: PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 47 (6), pp. 647 - 653 (2015)
15.
Journal Article
Iqbal, Z.; Willemsen, M. H.; Papon, M. A.; Musante, L.; Benevento, M.; Hu, H.; Venselaar, H.; Wissink-Lindhout, W. M.; Vulto-van Silfhout, A. T.; Vissers, L. E. et al.; de Brouwer, A. P.; Marouillat, S.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Nadif Kasri, N.; Najmabadi, H.; Laumonnier, F.; Kleefstra, T.; van Bokhoven, H.: Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 96 (3), pp. 386 - 396 (2015)
16.
Journal Article
Larti, F.; Kahrizi, K.; Musante, L.; Hu, H.; Papari, E.; Fattahi, Z.; Bazazzadegan, N.; Liu, Z.; Banan, M.; Garshasbi, M. et al.; Wienker, T. F.; Ropers, H.-H.; Galjart, N.; Najmabadi, H.: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European journal of human genetics 23 (3), pp. 331 - 336 (2015)
17.
Journal Article
Oladnabi, M.; Musante, L.; Larti, F.; Hu, H.; Abedini, S. S.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Najmabadi, H.: New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine 18 (3), pp. 179 - 184 (2015)
18.
Journal Article
Davarniya, B.; Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Hosseini, M.; Maqsoud, F.; Farajollahi, R.; Wienker, T. F.; Ropers, H. H. et al.; Najmabadi, H.: The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One 10 (8), e0129631 (2015)
19.
Journal Article
Hu, H.; Liu, X.; Jin, W.; Ropers, H. H.; Wienker, T. F.: Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports 5, 5:10247 (2015)
20.
Journal Article
Hu, H.; Matter, M. L.; Issa-Jahns, L.; Jijiwa, M.; Kraemer, N.; Musante, L.; de la Vega, M.; Ninnemann, O.; Schindler, D.; Damatova, N. et al.; Eirich, K.; Sifringer, M.; Schrotter, S.; Eickholt, B. J.; van den Heuvel, L.; Casamina, C.; Stoltenburg-Didinger, G.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 1 (12), pp. 1024 - 1035 (2014)
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