@article{UBHD-67887734,
  author={Bauer, Ralf and Dikow, Nicola and Brauer, Andreas and Kreuter, Michael and Buß, Sebastian Johannes and Evers, Christina and R{\"o}cken, Christoph and Schnabel, Philipp Albert and Hinderhofer, Katrin and Ehlermann, Philipp and Katus, Hugo and Kristen, Arnt},
  title={The "Wagshurst study"},
  subtitle={p. Val40Ile transthyretin gene variant causes late-onset cardiomyopathy},
  year={2014},
  pages={267-275},
  language={eng},
  issn={1744-2818},
  volume={21},
  number={4},
  note={Gesehen am 16.10.2015},
  journal={Amyloid},
  doi={10.3109/13506129.2014.967846},
}
@article{UBHD-68579952,
  author={Bertoli-Avella, Aida M. and Evers, Christina},
  title={Mutations in a TGF-β ligand, TGFB3, cause syndromicaortic aneurysms and dissections},
  year={2015},
  pages={1324-1336},
  language={eng},
  issn={1558-3597},
  volume={65},
  number={13},
  note={Gesehen am 22.05.2020},
  journal={Journal of the American College of Cardiology},
  doi={10.1016/j.jacc.2015.01.040},
}
@article{UBHD-68665978,
  author={Bisschoff, Izak Johannes and Evers, Christina},
  title={Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome},
  subtitle={a study of the extensive clinical variability},
  year={2013},
  pages={237-247},
  language={eng},
  issn={1098-1004},
  volume={34},
  number={1},
  note={Published online 3 October 2012 ; Gesehen am 26.11.2020},
  journal={Human mutation},
  doi={10.1002/humu.22224},
}
@article{UBHD-68319107,
  author={Dikow, Nicola and Granzow, Martin and Karch, Stephanie and Hinderhofer, Katrin and Paramasivam, Nagarajan and Kaufmann, Lilian Tamara 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-68638067,
  author={Evers, Christina and Jungwirth, Maria Sophia and Morgenthaler, J. and Hinderhofer, Katrin and Maas, B. and Janssen, Johannes W. G. and Jauch, Anna and Hehr, Ute and Steinbeisser, Herbert and Moog, Ute},
  title={Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1},
  subtitle={further insights into a genetic paradox},
  year={2014},
  pages={347-353},
  language={eng},
  issn={1399-0004},
  volume={85},
  number={4},
  note={First published: 24 April 2013 ; Gesehen am 16.09.2020},
  journal={Clinical genetics},
  doi={10.1111/cge.12171},
}
@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-68618391,
  author={Evers, Christina and Mitter, Diana and Strobl‐Wildemann, Gertrud and Haug, Ulrich and Hackmann, Karl and Maas, Bianca and Janssen, Johannes W. G. and Jauch, Anna and Hinderhofer, Katrin and Moog, Ute},
  title={Duplication Xp11.22-p14 in females},
  subtitle={does X-inactivation help in assessing their significance?},
  year={2015},
  pages={553-562},
  language={eng},
  issn={1552-4833},
  volume={167},
  number={3},
  note={Gesehen am 20.07.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36897},
}
@article{UBHD-68356599,
  author={Evers, Christina and Kaufmann, Lilian Tamara 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-68130589,
  author={Evers, Christina and Fischer, Christine and Dikow, Nicola and Schott, Sarah},
  title={Familial breast cancer},
  subtitle={genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect},
  year={2017},
  language={eng},
  issn={1932-6203},
  volume={12(2017},
  note={Gesehen am 22.06.2017},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0177893},
  url={http://dx.doi.org/10.1371/journal.pone.0177893},
  library={UB},
}
@book{UBHD-68493481,
  author={Evers, Christina},
  organization={Universit{\"a}t Heidelberg},
  title={Genomweite Analysen im klinischen Kontext},
  address={Heidelberg},
  year={2018},
  pages={1 Band (verschiedene Seitenz{\"a}hlungen)},
  language={ger},
  note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und  Zeitschriftenaufs{\"a}tzen},
  school={Habilitationsschrift,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2020,  Kumulative Habilitationsschrift},
  library={UB [Signatur: 2020 U 220]},
}
@article{UBHD-68332353,
  author={Evers, Christina and Gaspar, Harald and Kloor, Matthias and Bozukova, Gergana and Kadmon, Martina and Keller, Monika and Sutter, Christian and Moog, Ute},
  title={Hepatoblastoma in two siblings and familial adenomatous polyposis},
  subtitle={causal nexus or coincidence?},
  year={2012},
  pages={529-533},
  language={eng},
  issn={1573-7292},
  volume={11},
  number={3},
  note={Gesehen am 26.11.2018},
  journal={Familial cancer},
  doi={10.1007/s10689-012-9538-2},
}
@article{UBHD-68319623,
  author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian Tamara 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-67879731,
  author={Evers, Christina and Maas, Bianca and Koch, Karin and Jauch, Anna and Janssen, Johannes W. G. and Sutter, Christian and Hinderhofer, Katrin and Moog, Ute},
  title={Mosaic deletion of EXOC6B},
  subtitle={further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability},
  year={2014},
  pages={3088-3094},
  language={eng},
  issn={1552-4833},
  volume={164},
  number={12},
  note={Gesehen am 01.10.2015},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36770},
}
@article{UBHD-68913159,
  author={Evers, Christina and Heidemann, Ph and Dunstheimer, D and Schulze, E and Haag, C and Janssen, Johannes W. G. and Fischer, C and Jauch, Anna and Moog, Ute},
  title={Pseudoautosomal inheritance of Léri-Weill syndrome},
  subtitle={what does it mean?},
  year={2011},
  pages={489-494},
  language={eng},
  issn={1399-0004},
  volume={79},
  number={5},
  note={Gesehen am 02.05.2022},
  journal={Clinical genetics},
  doi={10.1111/j.1399-0004.2010.01488.x},
}
@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-68333454,
  author={Evers, Christina and Janssen, Johannes W. G. and Jauch, Anna and Moog, Ute},
  title={A small terminal deletion 11q in a boy without Jacobsen syndrome},
  subtitle={narrowing the critical region for the 11q Jacobsen syndrome phenotype},
  year={2012},
  pages={680-684},
  language={eng},
  issn={1552-4833},
  volume={158A},
  number={3},
  note={Gesehen am 28.11.2018},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.34433},
}
@article{UBHD-68047344,
  author={Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Fischer, Christine and Kaufmann, Lilian Tamara 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-68314835,
  author={Huth, Cathrin and Kloor, Matthias and Voigt, Anita Yvonne and Bozukova, Gergana and Evers, Christina and Gaspar, Harald and Tariverdian, Mirjam and Schirmacher, Peter and Knebel Doeberitz, Magnus von and Bl{\"a}ker, Hendrik},
  title={The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors},
  year={2012},
  pages={911-916},
  language={eng},
  issn={1530-0285},
  volume={25},
  number={6},
  note={Gesehen am 12.10.2018},
  journal={Modern pathology},
  doi={10.1038/modpathol.2012.30},
}
@article{UBHD-68458723,
  author={Knaus, Alexej and Evers, Christina},
  title={Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis},
  year={2018},
  language={eng},
  issn={1756-994X},
  volume={10(2018) Artikel-Nummer 3},
  number={13 Seiten},
  note={Gesehen am 21.11.2019},
  journal={Genome medicine},
  doi={10.1186/s13073-017-0510-5},
}
@article{UBHD-68493815,
  author={Kouz, Karim and Lißewski, Christina and Spranger, Stephanie and Mitter, Diana and Riess, Angelika and Lopez-Gonzalez, Vanesa and L{\"u}ttgen, Sabine and Aydin, Hatip and Deimling, Florian von and Evers, Christina and Hahn, Andreas and Hempel, Maja and Issa, Ulrike and Kahlert, Anne-Karin and Lieb, Adrian and Villavicencio Lorini, Pablo and Ballesta-Martinez, Maria Juliana and Nampoothiri, Sheela and Ovens-Raeder, Angela and Puchmajerová, Alena and Satanovskij, Robin and Seidel, Heide and Unkelbach, Stephan and Zabel, Bernhard and Kutsche, Kerstin and Zenker, Martin},
  title={Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation},
  year={2016},
  pages={1226-1234},
  language={eng},
  issn={1530-0366},
  volume={18},
  number={12},
  journal={Genetics in medicine},
  doi={10.1038/gim.2016.32},
}
@article{UBHD-68588778,
  author={Moog, Ute and Bierhals, Tatjana and Brand, Kristina and Bautsch, Jan and Biskup, Saskia and Brune, Thomas and Denecke, Jonas and Die-Smulders, Christine E. de and Evers, Christina and Hempel, Maja and Henneke, Marco and Yntema, Helger and Menten, Bj{\"o}rn and Pietz, Joachim and Pfundt, Rolph and Schmidtke, J{\"o}rg and Steinemann, Doris and Stumpel, Constance T. and Maldergem, Lionel Van and Kutsche, Kerstin},
  title={Phenotypic and molecular insights into CASK-related disorders in males},
  year={2015},
  pages={20 S.},
  language={eng},
  issn={1750-1172},
  volume={Bd. 10.2015},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-015-0256-3},
}
@book{UBHD-67986534,
  author={Moog, Ute and Evers, Christina and Pietz, Joachim},
  title={Phenotypic and molecular insights into CASK-related disorders in males},
  publisher={BioMed Central},
  address={London},
  year={2016},
  pages={1 Online-Ressource (20 Seiten)},
  language={eng},
  note={Wissenschaftlicher Aufsatz aus: Orphanet Journal of Rare Diseases, 10 (2015), Nr. 44. pp. 1-20. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-194137},
  library={UB},
}
@article{UBHD-68379513,
  author={Ott, Tim and Kaufmann, Lilian Tamara 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-68239851,
  author={Rath, Michèlle Geneviève and Fathali Zadeh, Farnoosh and Langheinz, Anne and Tchatchou, Sandrine and Voigtl{\"a}nder, Theda and Heil, J{\"o}rg and Golatta, Michael and Schott, Sarah and Drasseck, Teresa and Behnecke, Anne and Burgemeister, Anna Lena and Evers, Christina and Bugert, Peter and Junkermann, Hans and Schneeweiss, Andreas and Bartram, Claus R. and Sohn, Christof and Sutter, Christian and Burwinkel, Barbara},
  title={Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene},
  year={2012},
  pages={725-734},
  language={eng},
  issn={1573-7217},
  volume={133},
  number={2},
  note={Gesehen am 05.04.2018},
  journal={Breast cancer research and treatment},
  doi={10.1007/s10549-011-1917-0},
}
@article{UBHD-68649637,
  author={Rump, Patrick and Evers, Christina},
  title={Central 22q11.2 deletions},
  year={2014},
  pages={2707-2723},
  language={eng},
  issn={1552-4833},
  volume={164},
  number={11},
  note={Gesehen am 16.10.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36711},
}
@article{UBHD-68289791,
  author={Schorling, David and Evers, Christina and Hinderhofer, Katrin},
  title={Expanding phenotype of De Novo mutations in GNAO1},
  subtitle={four new cases and review of literature},
  year={2017},
  pages={371-377},
  language={eng},
  issn={1439-1899},
  volume={48},
  number={05},
  note={Publikationsdatum: 19. Juni 2017 (eFirst) ; Gesehen am 27.07.2018},
  journal={Neuropediatrics},
  doi={10.1055/s-0037-1603977},
}
@article{UBHD-68295289,
  author={Schott, Sarah and Vetter, Lisa Marie Andrea and Keller, Monika and Bruckner, Thomas and Golatta, Michael and Eismann, Sabine and Dikow, Nicola and Evers, Christina and Sohn, Christof and Heil, J{\"o}rg},
  title={Women at familial risk of breast cancer electing for prophylactic mastectomy},
  subtitle={frequencies, procedures, and decision-making characteristics},
  year={2017},
  pages={1451-1458},
  language={eng},
  issn={1432-0711},
  volume={295},
  number={6},
  note={Gesehen am 14.08.2018},
  journal={Archives of gynecology and obstetrics},
  doi={10.1007/s00404-017-4376-y},
}
@article{UBHD-67892584,
  author={Surowy, Harald and Schneeweiss, Andreas and Bugert, Peter and Sohn, Christof and Bartram, Claus R. and Burwinkel, Barbara and Sutter, Christian and Evers, Christina and Burgemeister, Anna Lena and G{\"o}hringer, Caroline and Dikow, Nicola and Heil, J{\"o}rg and Golatta, Michael and Schott, Sarah},
  title={Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance},
  year={2014},
  pages={451-460},
  language={eng},
  issn={1573-7217},
  volume={145},
  number={2},
  note={Gesehen am 27.10.2015},
  journal={Breast cancer research and treatment},
  doi={10.1007/s10549-014-2943-5},
}
@article{UBHD-69184493,
  author={Tibelius, Alexandra and Evers, Christina and Oeser, Sabrina and Rinke, Isabelle and Jauch, Anna and Hinderhofer, Katrin},
  title={Compilation of genotype and phenotype data in GCDH-LOVD for variant classification and further application},
  year={2023},
  pages={1-17},
  language={eng},
  issn={2073-4425},
  volume={14},
  note={Gesehen am 21.02.2024},
  journal={Genes},
  doi={10.3390/genes14122218},
}
@article{UBHD-68239837,
  author={Tzschach, Andreas and Evers, Christina and Moog, Ute},
  title={Next-generation sequencing in X-linked intellectual disability},
  year={2015},
  pages={1513-1518},
  language={eng},
  issn={1476-5438},
  volume={23},
  number={11},
  note={Gesehen am 05.04.2018},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2015.5},
}
@article{UBHD-68468261,
  author={Vetter, Lisa Marie Andrea and Keller, Monika and Bruckner, Thomas and Golatta, Michael and Eismann, Sabine and Evers, Christina and Dikow, Nicola and Sohn, Christof and Heil, J{\"o}rg and Schott, Sarah},
  title={Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening},
  subtitle={a monocenter study in Germany},
  year={2016},
  pages={289-299},
  language={eng},
  issn={1573-7217},
  volume={156},
  number={2},
  note={Gesehen am 16.12.2019},
  journal={Breast cancer research and treatment},
  doi={10.1007/s10549-016-3748-5},
}