@article{UBHD-68698516, author={Aslam, Muhammad and Kandasamy, Nirosiya and Ullah, Anwar and Paramasivam, Nagarajan and {\"O}zt{\"u}rk, Mehmet Ali and Naureen, Saima and Arshad, Abida and Badshah, Mazhar and Khan, Kafaitullah and Wajid, Muhammad and Abbasi, Rashda and Ilyas, Muhammad and Eils, Roland and Schlesner, Matthias and Wade, Rebecca C. and Ahmad, Nafees and von Engelhardt, Jakob}, title={Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease}, year={2021}, pages={10 S.}, language={eng}, issn={2056-7944}, volume={6(2021}, note={Gesehen am 12.02.2021}, journal={npj Genomic Medicine}, doi={10.1038/s41525-020-00163-8}, } @article{UBHD-68496158, author={Bandapalli, Obul Reddy and Paramasivam, Nagarajan and Giangiobbe, Sara and Witzens-Harig, Mathias and Schlesner, Matthias and Hemminki, Kari and F{\"o}rsti, Asta}, title={Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma}, year={2018}, pages={2076-2078}, language={eng}, issn={1097-0215}, volume={143}, number={8}, note={Gesehen am 04.03.2020}, journal={International journal of cancer}, doi={10.1002/ijc.31576}, } @article{UBHD-68712164, author={Catalano, Calogerina and Paramasivam, Nagarajan and Blocka, Joanna and Giangiobbe, Sara and Huhn, Stefanie and Schlesner, Matthias and Weinhold, Niels and Goldschmidt, Hartmut and Bandapalli, Obul Reddy and Hemminki, Kari and F{\"o}rsti, Asta}, title={Characterization of rare germline variants in familial multiple myeloma}, year={2021}, pages={1-4}, language={eng}, issn={2044-5385}, volume={11}, number={Artikel-ID 33}, note={Gesehen am 03.11.2021}, journal={Blood cancer journal}, doi={10.1038/s41408-021-00422-6}, } @article{UBHD-68630860, author={Choukair, Daniela and Fredershausen, Birgit and Vick, Philipp and Hermanns, Pia and Weiß, Birgit and Paramasivam, Nagarajan and Schlesner, Matthias and Lornsen, Katharina and R{\"o}th, Ralph and Klutmann, Carina and Kreis, Jennifer and Hoffmann, Georg F. and Pohlenz, Joachim and Rappold, Gudrun and Bettendorf, Markus}, title={Identification of transient receptor potential channel 4-associated protein as a novel candidate gene causing congenital primary hypothyroidism}, year={2020}, pages={16-29}, language={eng}, issn={1663-2826}, volume={93}, number={1}, note={Gesehen am 25.08.2020}, journal={Hormone research in paediatrics}, doi={10.1159/000507114}, } @article{UBHD-68319107, author={Dikow, Nicola and Granzow, Martin and Karch, Stephanie and Hinderhofer, Katrin and Paramasivam, Nagarajan and Kaufmann, Lilian and Fischer, Christine and Evers, Christina and Eils, Roland and Bartram, Claus R. and Moog, Ute}, title={DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome}, year={2017}, pages={1369-1373}, language={eng}, issn={1552-4833}, volume={173}, number={5}, note={Gesehen am 19.10.2018}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.38164}, } @article{UBHD-68509294, author={Dimitrov, Bianca and Himmelreich, Nastassja and L{\"u}chtenborg, Christian and Okun, J{\"u}rgen G. and Breuer, Maximilian and Hutter, Anna-Marlen and Carl, Matthias and Guglielmi, Luca and Hellwig, Andrea and Thiemann, Kai Christian and Jost, Markus and Peters, Verena and Staufner, Christian and Hoffmann, Georg F. and Paramasivam, Nagarajan and Eils, Roland and Strahl, Sabine and Br{\"u}gger, Britta and Korenke, Christoph and Thiel, Christian}, title={Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG}, year={2018}, pages={364-374}, language={eng}, issn={1096-7206}, volume={123}, number={3}, note={Gesehen am 12.03.2020}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2018.01.008}, } @article{UBHD-68319619, author={Evers, Christina and Seitz, Angelika and Assmann, Birgit and Opladen, Thomas and Karch, Stephanie and Hinderhofer, Katrin and Granzow, Martin and Paramasivam, Nagarajan and Eils, Roland and Bartram, Claus R. and Moog, Ute}, title={Diagnosis of CoPAN by whole exome sequencing}, subtitle={waking up a sleeping tiger's eye}, year={2017}, pages={1878-1886}, language={eng}, issn={1552-4833}, volume={173}, number={7}, note={Gesehen am 22.10.2018}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.38252}, } @article{UBHD-68356599, author={Evers, Christina and Kaufmann, Lilian and Seitz, Angelika and Paramasivam, Nagarajan and Granzow, Martin and Karch, Stephanie and Fischer, Christine and Hinderhofer, Katrin and Gdynia, Georg and Els{\"a}sser, Michael and Bartram, Claus R. and Moog, Ute}, title={Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy}, year={2016}, pages={1502-1509}, language={eng}, issn={1552-4833}, volume={170}, number={6}, note={Gesehen am 08.02.2019}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.37632}, } @article{UBHD-68319623, author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian and Fischer, Christine and Thiel, Christian and Opladen, Thomas and Kotzaeridou, Urania and Eils, Roland and K{\"o}lker, Stefan and Bartram, Claus R. and Hoffmann, Georg F. and Moog, Ute}, title={Impact of clinical exomes in neurodevelopmental and neurometabolic disorders}, year={2017}, pages={297-307}, language={eng}, issn={1096-7206}, volume={121}, number={4}, note={Gesehen am 22.10.2018}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2017.06.014}, } @article{UBHD-68618393, author={Evers, Christina and Paramasivam, Nagarajan and Hinderhofer, Katrin and Fischer, Christine and Granzow, Martin and Schmidt-Bacher, Annette and Eils, Roland and Steinbeisser, Herbert and Schlesner, Matthias and Moog, Ute}, title={SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract}, year={2015}, pages={1627-1633}, language={eng}, issn={1476-5438}, volume={23}, number={12}, note={Gesehen am 20.07.2020}, journal={European journal of human genetics}, doi={10.1038/ejhg.2015.46}, } @article{UBHD-69065196, author={Giesen, Nicola and Paramasivam, Nagarajan and Toprak, Umut and H{\"u}bschmann, Daniel and Xu, Jing and Uhrig, Sebastian and Samur, Mehmet and B{\"a}hr, Stella and Fr{\"o}hlich, Martina and Mughal, Sadaf Shabbir and Mai, Elias K. and Jauch, Anna and M{\"u}ller-Tidow, Carsten and Brors, Benedikt and Munshi, Nikhil C. and Goldschmidt, Hartmut and Weinhold, Niels and Schlesner, Matthias and Raab, Marc-Steffen}, title={Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities}, year={2022}, pages={1891-1901}, language={eng}, issn={1592-8721}, volume={107}, number={8}, note={Gesehen am 13.04.2023}, journal={Haematologica}, doi={10.3324/haematol.2021.279360}, } @article{UBHD-68263864, author={Gießler, Klara Monika and Kleinheinz, Kortine and H{\"u}bschmann, Daniel and Balasubramanian, Gnana Prakash and Dubash, Taronish Dorab and Dieter, Sebastian M. and Siegl, Christine and Herbst, Friederike and Weber, Sarah and Hoffmann, Christopher M. and Fronza, Raffaele and Buchhalter, Ivo and Paramasivam, Nagarajan and Eils, Roland and Schmidt, Manfred and Kalle, Christof von and Schneider, Martin and Ulrich, Alexis and Scholl, Claudia and Fr{\"o}hling, Stefan and Weichert, Wilko and Brors, Benedikt and Schlesner, Matthias and Ball, Claudia R. and Glimm, Hanno}, title={Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer}, year={2017}, pages={2073-2088}, language={eng}, issn={1540-9538}, volume={214}, number={7}, note={Published June 1, 2017 ; Gesehen am 20.06.2018}, journal={Journal of experimental medicine}, doi={10.1084/jem.20162017}, } @article{UBHD-68047344, author={Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Fischer, Christine and Kaufmann, Lilian and Evers, Christina and Kotzaeridou, Urania and Rohrschneider, Klaus and Eils, Roland and Bartram, Claus R. and Moog, Ute}, title={Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing}, subtitle={lessons of the bioinformatics pipeline}, year={2015}, pages={323-329}, language={eng}, issn={1096-1194}, volume={29}, number={5}, note={Gesehen am 08.11.2016}, journal={Molecular and cellular probes}, doi={10.1016/j.mcp.2015.05.012}, } @article{UBHD-68873825, author={H{\"u}bschmann, Daniel and Kleinheinz, Kortine and Wagener, Rabea and Bernhart, Stephan H. and López, Cristina and Toprak, Umut and Sungalee, Stéphanie and Ishaque, Naveed and Kretzmer, Helene and Kreuz, Markus and Waszak, Sebastian Martin and Paramasivam, Nagarajan and Ammerpohl, Ole and Aukema, Sietse M. and Beekman, Renée and Bergmann, Anke K. and Bieg, Matthias and Binder, Hans and Borkhardt, Arndt and Borst, Christoph and Brors, Benedikt and Bruns, Philipp and Carrillo de Santa Pau, Enrique and Claviez, Alexander and Doose, Gero and Haake, Andrea and Karsch, Dennis and Haas, Siegfried and Hansmann, Martin-Leo and Hoell, Jessica I. and Hovestadt, Volker and Huang, Bingding and Hummel, Michael and J{\"a}ger-Schmidt, Christina and Kerssemakers, Jules and Korbel, Jan Oliver and Kube, Dieter and Lawerenz, Christian and Lenze, Dido and Martens, Joost H. A. and Ott, German and Radlwimmer, Bernhard and Reisinger, Eva and Richter, Julia and Rico, Daniel and Rosenstiel, Philip and Rosenwald, Andreas and Schillhabel, Markus and Stilgenbauer, Stephan and Stadler, Peter F. and Martín-Subero, José I. and Szczepanowski, Monika and Warsow, Gregor and Weniger, Marc A. and Zapatka, Marc and Valencia, Alfonso and Stunnenberg, Hendrik G. and Lichter, Peter and M{\"o}ller, Peter and Loeffler, Markus and Eils, Roland and Klapper, Wolfram and Hoffmann, Steve and Tr{\"u}mper, Lorenz and K{\"u}ppers, Ralf and Schlesner, Matthias and Siebert, Reiner}, title={Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas}, year={2021}, pages={2002-2016}, language={eng}, issn={1476-5551}, volume={35}, number={7}, note={Affiliations: Daniel H{\"u}bschmann, Kortine Kleinheinz, Rabea Wagener, Stephan H. Bernhart, Cristina López, Umut H. Toprak, Stephanie Sungalee, Naveed Ishaque, Helene Kretzmer, Markus Kreuz, Sebastian M. Waszak, Nagarajan Paramasivam, Ole Ammerpohl, Sietse M. Aukema, Renée Beekman, Anke K. Bergmann, Matthias Bieg, Hans Binder, Arndt Borkhardt, Christoph Borst, Benedikt Brors, Philipp Bruns, Enrique Carrillo de Santa Pau, Alexander Claviez, Gero Doose, Andrea Haake, Dennis Karsch, Siegfried Haas, Martin-Leo Hansmann, Jessica I. Hoell, Volker Hovestadt, Bingding Huang, Michael Hummel, Christina J{\"a}ger-Schmidt, Jules N.A. Kerssemakers, Jan O. Korbel, Dieter Kube, Chris Lawerenz, Dido Lenze, Joost H.A. Martens, German Ott, Bernhard Radlwimmer, Eva Reisinger, Julia Richter, Daniel Rico, Philip Rosenstiel, Andreas Rosenwald, Markus Schillhabel, Stephan Stilgenbauer, Peter F. Stadler, José I. Martín-Subero, Monika Szczepanowski, Gregor Warsow, Marc A. Weniger, Marc Zapatka, Alfonso Valencia, Hendrik G. Stunnenberg, Peter Lichter, Peter M{\"o}ller, Markus Loeffler, Roland Eils, Wolfram Klapper, Steve Hoffmann, Lorenz Tr{\"u}mper, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Ralf K{\"u}ppers, Matthias Schlesner, Reiner Siebert ; Gesehen am 03.02.2022}, journal={Leukemia}, doi={10.1038/s41375-021-01251-z}, } @article{UBHD-68491160, author={Ishaque, Naveed and Abba, Mohammed L. and Patil, Nitin and Paramasivam, Nagarajan and H{\"u}bschmann, Daniel and Leupold, J{\"o}rg and Balasubramanian, Gnana Prakash and Kleinheinz, Kortine and Toprak, Umut and Hutter, Barbara and Benner, Axel and Kerssemakers, Jules and Marx, Alexander and Eils, J{\"u}rgen and Schlesner, Matthias and Eils, Roland and Brors, Benedikt and Allgayer, Heike}, title={Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer}, year={2018}, pages={14 S.}, language={eng}, issn={2041-1723}, volume={9(2018) Artikel-Nummer 4782}, number={14 Seiten}, note={Gesehen am 19.02.2020}, journal={Nature Communications}, doi={10.1038/s41467-018-07041-z}, } @article{UBHD-68980320, author={Jahn, Arne and Rump, A. and Widmann, T. J. and Heining, C. and Horak, Peter and Hutter, Barbara and Paramasivam, Nagarajan and Uhrig, Sebastian and Gieldon, Laura and Drukewitz, S. and K{\"u}bler, A. and Bermudez, M. and Hackmann, K. and Porrmann, J. and Wagner, J. and Arlt, M. and Franke, M. and Fischer, J. and Kowalzyk, Z. and William, D. and Weth, V. and Oster, S. and Fr{\"o}hlich, M. and H{\"u}llein, Jennifer and Valle González, C. and Kreutzfeldt, Simon and Mock, Andreas and Heilig, Christoph E. and Lipka, Daniel and M{\"o}hrmann, L. and Hanf, D. and Oleś, M. and Teleanu, Maria-Veronica and Allg{\"a}uer, Michael and Ruhnke, L. and Kutz, O. and Knurr, Alexander and Laßmann, Andreas and Endris, Volker and Neumann, Olaf and Penzel, Roland and Beck, K. and Richter, D. and Winter, U. and Wolf, S. and Pf{\"u}tze, Katrin and Ge{\"o}rg, C. and Meissburger, Bettina and Buchhalter, Ivo and Augustin, M. and Aulitzky, W. E. and Hohenberger, Peter and Kroiss, M. and Schirmacher, Peter and Schlenk, Richard Friedrich and Keilholz, Ulrich and Klauschen, Frederick and Folprecht, G. and Bauer, S. and Siveke, J. T. and Brandts, C. H. and Kindler, T. and Boerries, M. and Illert, A. L. and von Bubnoff, N. and Jost, P. J. and Metzeler, K. H. and Bitzer, M. and Schulze-Osthoff, K. and Kalle, Christof von and Brors, Benedikt and Stenzinger, Albrecht and Weichert, Wilko and H{\"u}bschmann, Daniel and Fr{\"o}hling, Stefan and Glimm, Hanno and Schr{\"o}ck, E. and Klink, Barbara}, title={Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers}, year={2022}, pages={1186-1199}, language={eng}, issn={1569-8041}, volume={33}, number={11}, note={Online ver{\"o}ffentlicht am 18. August 2022, Artikelversion 25. Oktober 2022 ; Gesehen am 31.10.2022}, journal={Annals of oncology}, doi={10.1016/j.annonc.2022.07.008}, } @article{UBHD-68323982, author={K{\"u}ry, Sébastien and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Granzow, Martin}, title={De Novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability}, year={2017}, pages={768-788}, language={eng}, issn={1537-6605}, volume={101}, number={5}, note={Gesehen am 02.11.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2017.10.003}, } @article{UBHD-68455153, author={Kumar, Abhishek and Bandapalli, Obul Reddy and Paramasivam, Nagarajan and Giangiobbe, Sara and Diquigiovanni, Chiara and Bonora, Elena and Eils, Roland and Schlesner, Matthias and Hemminki, Kari and F{\"o}rsti, Asta}, title={Familial cancer variant prioritization pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family}, year={2018}, pages={12 S.}, language={eng}, issn={2045-2322}, volume={8(2018) Artikel-Nummer 11635}, number={12 Seiten}, note={Gesehen am 14.11.2019}, journal={Scientific reports}, doi={10.1038/s41598-018-29952-z}, } @article{UBHD-69196909, author={Liebers, Nora and Bruch, Peter-Martin and Terzer, Tobias and Hernández, Miguel and Paramasivam, Nagarajan and Fitzgerald, Donnacha and Altmann, Heidi and Roider, Tobias and Kolb, Carolin and Knoll, Mareike and Lenze, Angela and Platzbecker, Uwe and R{\"o}llig, Christoph and Baldus, Claudia and Serve, Hubert and Bornh{\"a}user, Martin and H{\"u}bschmann, Daniel and M{\"u}ller-Tidow, Carsten and St{\"o}lzel, Friedrich and Huber, Wolfgang and Benner, Axel and Zenz, Thorsten and Lu, Junyan and Dietrich, Sascha}, title={Ex vivo drug response profiling for response and outcome prediction in hematologic malignancies}, subtitle={the prospective non-interventional SMARTrial}, year={2023}, pages={31 S.}, language={eng}, issn={2662-1347}, volume={4}, note={Gesehen am 03.04.2024}, journal={Nature cancer}, doi={10.1038/s43018-023-00645-5}, } @article{UBHD-68677315, author={Mederer, Tanja and Schmitteckert, Stefanie and Volz, Julia and Martinez, Cristina and R{\"o}th, Ralph and Thumberger, Thomas and Eckstein, Volker and Scheuerer, Jutta and Th{\"o}ni, Cornelia and Lasitschka, Felix and Carstensen, Leonie and G{\"u}nther, Patrick and Holland-Cunz, Stefan and Hofstraat, Robert G. and Brosens, Erwin and Rosenfeld, Jill A. and Schaaf, Christian P. and Schriemer, Duco and Ceccherini, Isabella and Rusmini, Marta and Tilghman, Joseph and Luzón-Toro, Berta and Torroglosa, Ana and Borrego, Salud and Tang, Clara Sze-man and Garcia-Barceló, Mercè and Tam, Paul and Paramasivam, Nagarajan and Bewerunge-Hudler, Melanie and Torre, Carolina de la and Gretz, Norbert and Rappold, Gudrun and Romero, Philipp and Niesler, Beate}, title={A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease}, year={2020}, pages={e1009106}, language={eng}, issn={1553-7404}, volume={16}, number={11}, note={Gesehen am 07.01.2021}, journal={PLoS Genetics}, doi={10.1371/journal.pgen.1009106}, } @article{UBHD-68906967, author={Miao, Beiping and Skopelitou, Diamanto and Srivastava, Aayushi and Giangiobbe, Sara and Dymerska, Dagmara and Paramasivam, Nagarajan and Kumar, Abhishek and Kuświk, Magdalena and Kluźniak, Wojciech and Paszkowska-Szczur, Katarzyna and Schlesner, Matthias and Lubinski, Jan and Hemminki, Kari and F{\"o}rsti, Asta and Bandapalli, Obul Reddy}, title={Whole-exome sequencing identifies a novel germline variant in PTK7 gene in familial colorectal cancer}, year={2022}, pages={1-20}, language={eng}, issn={1422-0067 and 1661-6596}, volume={23}, note={Gesehen am 12.04.2022 ; This article belongs to the Special Issue Linking Genomic Changes with Cancer in the NGS Era}, journal={International journal of molecular sciences}, doi={10.3390/ijms23031295}, } @article{UBHD-68254461, author={Northcott, Paul A. and Paramasivam, Nagarajan and Heinold, Michael and H{\"u}bschmann, Daniel and Herold-Mende, Christel and Witt, Olaf and Milde, Till and Deimling, Andreas von and Capper, David and Brors, Benedikt and Eils, Roland}, title={The whole-genome landscape of medulloblastoma subtypes}, year={2017}, pages={311-317}, language={eng}, issn={1476-4687}, volume={547}, number={7663}, note={Das PDF enth{\"a}lt abweichend von der Seitenangabe 20 Seiten, incl. Anhang ; Gesehen am 24.05.2018}, journal={Nature}, doi={10.1038/nature22973}, } @article{UBHD-68379513, author={Ott, Tim and Kaufmann, Lilian and Granzow, Martin and Hinderhofer, Katrin and Bartram, Claus R. and Theiß, Susanne and Seitz, Angelika and Paramasivam, Nagarajan and Moog, Ute and Blum, Martin and Evers, Christina}, title={The frog Xenopus as a model to study Joubert syndrome}, subtitle={the case of a human patient with compound heterozygous variants in PIBF1}, year={2019}, pages={13 S.}, language={eng}, issn={1664-042X}, volume={10(2019) Artikel-Nummer 134}, number={13 Seiten}, journal={Frontiers in physiology}, doi={10.3389/fphys.2019.00134}, url={https://doi.org/10.3389/fphys.2019.00134}, library={UB}, } @article{UBHD-68480336, author={Paramasivam, Nagarajan and H{\"u}bschmann, Daniel and Toprak, Umut and Ishaque, Naveed and Neidert, Marian Christoph and Schrimpf, Daniel and Stichel, Damian and Reuss, David and Sievers, Philipp and Reinhardt, Annekathrin and Wefers, Annika K. and Jones, David T. W. and Gu, Zuguang and Werner, Johannes and Uhrig, Sebastian and Wirsching, Hans-Georg and Schick, Matthias and Bewerunge-Hudler, Melanie and Beck, Katja and Brehmer, Stefanie and Urbschat, Steffi and Seiz-Rosenhagen, Marcel and H{\"a}nggi, Daniel and Herold-Mende, Christel and Ketter, Ralf and Eils, Roland and Ram, Zvi and Pfister, Stefan and Wick, Wolfgang and Weller, Michael and Grossmann, Rachel and Deimling, Andreas von and Schlesner, Matthias and Sahm, Felix}, title={Mutational patterns and regulatory networks in epigenetic subgroups of meningioma}, year={2019}, pages={295-308}, language={eng}, issn={1432-0533}, volume={138}, number={2}, note={Received: 9 August 2018 ; Gesehen am 24.01.2020}, journal={Acta neuropathologica}, doi={10.1007/s00401-019-02008-w}, } @article{UBHD-68618066, author={Rafiullah, Rafiullah and Aslamkhan, Muhammad and Paramasivam, Nagarajan and Thiel, Christian and Mustafa, Ghulam and Wiemann, Stefan and Schlesner, Matthias and Wade, Rebecca C. and Rappold, Gudrun and Berkel, Simone}, title={Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family}, year={2016}, pages={138-144}, language={eng}, issn={1468-6244}, volume={53}, number={2}, note={Published Online First 13 November 2015 ; Gesehen am 17.07.2020}, journal={Journal of medical genetics}, doi={10.1136/jmedgenet-2015-103179}, } @article{UBHD-68319054, author={Rafiullah, Rafiullah and Blum, Martin and Berkel, Simone and Paramasivam, Nagarajan and Rappold, Gudrun}, title={A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity}, year={2017}, pages={1324-1334}, language={eng}, issn={1476-5438}, volume={25}, number={12}, note={Gesehen am 19.10.2018}, journal={European journal of human genetics}, doi={10.1038/s41431-017-0031-0}, } @article{UBHD-68283275, author={Senís Herrero, Elena and Mockenhaupt, Stefan and Rupp, Daniel and Paramasivam, Nagarajan and Große, Stefanie and Windisch, Marc Peter and Schmidt, Florian and Eils, Roland and Bartenschlager, Ralf and Grimm, Dirk}, title={TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus}, year={2017}, pages={17 S.}, language={eng}, issn={1362-4962}, volume={45(2017}, note={Published online: 9 September 2016 ; Gesehen am 06.07.2018}, journal={Nucleic acids research}, doi={10.1093/nar/gkw805}, } @article{UBHD-68563353, author={Sievers, Philipp and Chiang, Jason and Schrimpf, Daniel and Stichel, Damian and Paramasivam, Nagarajan and Sill, Martin and Gayden, Tenzin and Casalini, Belén and Reuss, David and Dalton, James and Pajtler, Kristian Wilfried and H{\"a}nggi, Daniel and Herold-Mende, Christel and Rushing, Elisabeth Jane and Korshunov, Andrey and Mawrin, Christian and Weller, Michael and Schlesner, Matthias and Wick, Wolfgang and Jabado, Nada and Jones, David T. W. and Pfister, Stefan and Deimling, Andreas von and Ellison, David W. and Sahm, Felix}, title={YAP1-fusions in pediatric NF2-wildtype meningioma}, year={2020}, pages={215-218}, language={eng}, issn={1432-0533}, volume={139}, number={1}, note={Published online: 16 November 2019 ; Gesehen am 09.04.2020}, journal={Acta neuropathologica}, doi={10.1007/s00401-019-02095-9}, } @article{UBHD-68422019, author={Simm, Franziska and Griesbeck, Anne and Choukair, Daniela and Weiß, Birgit and Paramasivam, Nagarajan and Klammt, J{\"u}rgen and Schlesner, Matthias and Wiemann, Stefan and Martinez, Cristina and Hoffmann, Georg F. and Pf{\"a}ffle, Roland Werner and Bettendorf, Markus and Rappold, Gudrun}, title={Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency}, year={2018}, pages={728-736}, language={eng}, issn={1530-0366}, volume={20}, number={7}, note={Advance online publication: 26 October 2017 ; Gesehen am 19.08.2019}, journal={Genetics in medicine}, doi={10.1038/gim.2017.165}, } @article{UBHD-68721795, author={Skopelitou, Diamanto and Miao, Beiping and Srivastava, Aayushi and Kumar, Abhishek and Kuswick, Magdalena and Dymerska, Dagmara and Paramasivam, Nagarajan and Schlesner, Matthias and Lubinski, Jan and Hemminki, Kari and F{\"o}rsti, Asta and Bandapalli, Obul Reddy}, title={Whole exome sequencing identifies APCDD1 and HDAC5 genes as potentially cancer predisposing in familial colorectal cancer}, year={2021}, pages={1-21}, language={eng}, issn={1422-0067 and 1661-6596}, volume={22}, note={Gesehen am 27.08.2021}, journal={International journal of molecular sciences}, doi={10.3390/ijms22041837}, } @article{UBHD-68794142, author={Slater, Emily P. and Wilke, Lisa M. and B{\"o}hm, Lutz Benedikt and Strauch, Konstantin and Lutz, Manuel and Gercke, Norman and Matth{\"a}i, Elvira and Hemminki, Kari and F{\"o}rsti, Asta and Schlesner, Matthias and Paramasivam, Nagarajan and Bartsch, Detlef K.}, title={Combinations of low-frequency genetic variants might predispose to familial pancreatic cancer}, year={2021}, pages={1-14}, language={eng}, issn={2075-4426}, volume={11}, note={Gesehen am 27.10.2021}, journal={Journal of Personalized Medicine}, doi={10.3390/jpm11070631}, } @article{UBHD-68571713, author={Srivastava, Aayushi and Giangiobbe, Sara and Paramasivam, Nagarajan and Behnisch, Wolfgang and Witzens-Harig, Mathias and Hemminki, Kari and F{\"o}rsti, Asta and Bandapalli, Obul Reddy}, title={Identification of familial Hodgkin lymphoma predisposing genes using whole genome sequencing}, year={2020}, pages={11 S.}, language={eng}, issn={2296-4185}, volume={8(2020) Artikel-Nummer 179}, number={11 Seiten}, note={Gesehen am 29.04.2020}, journal={Frontiers in Bioengineering and Biotechnology}, doi={10.3389/fbioe.2020.00179}, } @article{UBHD-68797922, author={Srivastava, Aayushi and Giangiobbe, Sara and Skopelitou, Diamanto and Miao, Beiping and Paramasivam, Nagarajan and Diquigiovanni, Chiara and Bonora, Elena and Hemminki, Kari and F{\"o}rsti, Asta and Bandapalli, Obul Reddy}, title={Whole genome sequencing prioritizes CHEK2, EWSR1, and TIAM1 as possible predisposition genes for familial non-medullary thyroid cancer}, year={2021}, pages={1-10}, language={eng}, issn={1664-2392}, volume={12(2021) vom: 22. Feb.}, number={Artikel-ID 600682}, note={Gesehen am 08.11.2021}, journal={Frontiers in endocrinology}, doi={10.3389/fendo.2021.600682}, } @article{UBHD-68265311, author={Ullah, Anwar and Paramasivam, Nagarajan and Schlesner, Matthias}, title={A report of whole-genome sequencing in neurologic Wilson's disease}, year={2017}, pages={629-631}, language={eng}, issn={1998-4022}, volume={65}, number={3}, note={Date of web publication 9-May-2017 ; Gesehen am 26.06.2018}, journal={Neurology India}, doi={10.4103/neuroindia.NI_1274_16}, } @article{UBHD-68909291, author={Vick, Philipp and Fredershausen, Birgit and Choukair, Daniela and Weiß, Birgit and R{\"o}th, Ralph and Schneider, Isabelle and Paramasivam, Nagarajan and Bettendorf, Markus and Rappold, Gudrun}, title={Identification of ZBTB26 as a novel risk factor for congenital hypothyroidism}, year={2021}, pages={1-10}, language={eng}, issn={2073-4425}, volume={12}, note={Gesehen am 21.04.2022}, journal={Genes}, doi={10.3390/genes12121862}, } @article{UBHD-68666686, author={Zheng, Guoqiao and Catalano, Calogerina and Bandapalli, Obul Reddy and Paramasivam, Nagarajan and Chattopadhyay, Subhayan and Schlesner, Matthias and Sijmons, Rolf and Hemminki, Akseli and Dymerska, Dagmara and Lubinski, Jan and Hemminki, Kari and F{\"o}rsti, Asta}, title={Cancer predisposition genes in cancer-free families}, year={2020}, pages={13 S.}, language={eng}, issn={2072-6694}, volume={12(2020}, note={Gesehen am 30.11.2020}, journal={Cancers}, doi={10.3390/cancers12102770}, }