@article{UBHD-68244685,
  author={Alcantara, Diana and Moog, Ute},
  title={Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly},
  year={2017},
  pages={2610-2622},
  language={eng},
  issn={1460-2156},
  volume={140},
  number={10},
  note={Gesehen am 19.04.2018},
  journal={Brain},
  doi={10.1093/brain/awx203},
}
@article{UBHD-68884013,
  author={Allanson, Judith E. and Hennekam, Raoul C.M. and Moog, Ute and Smeets, Eric E.},
  title={Rett syndrome},
  subtitle={A study of the face},
  year={2011},
  pages={1563-1567},
  language={eng},
  issn={1552-4833},
  volume={155},
  number={7},
  note={Gesehen am 01.03.2022},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.34027},
}
@article{UBHD-68649642,
  author={Aslan, Deniz and Moog, Ute},
  title={Oculoectodermal syndrome},
  subtitle={report of a new case with a broad clinical spectrum},
  year={2014},
  pages={2947-2951},
  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.36727},
}
@article{UBHD-68487389,
  author={Avila, Magali and Moog, Ute},
  title={Clinical reappraisal of SHORT syndrome with PIK3R1 mutations},
  subtitle={toward recommendation for molecular testing and management},
  year={2016},
  pages={501-506},
  language={eng},
  issn={1399-0004},
  volume={89},
  number={4},
  note={First published: 24 October 2015 ; Gesehen am 11.02.2020},
  journal={Clinical genetics},
  doi={10.1111/cge.12688},
}
@article{UBHD-68323698,
  author={Behnecke, Anne and Dikow, Nicola and Moog, Ute},
  title={How fingers and face can be the clue?},
  year={2012},
  pages={e27-e28},
  language={eng},
  issn={1468-1331},
  volume={19},
  number={3},
  note={Received 28 September 2011, accepted 17 November 2011, first published: 14 February 2012 ; Gesehen am 31.10.2018},
  journal={European journal of neurology},
  doi={10.1111/j.1468-1331.2011.03622.x},
}
@article{UBHD-68893811,
  author={Behnecke, Anne and Hinderhofer, Katrin and Bartsch, Oliver and N{\"u}mann, Astrid and Ipach, Marie-Luise and Damatova, Natalja and Haaf, Thomas and Dufke, Andreas and Riess, Olaf and Moog, Ute},
  title={Intragenic deletions of IL1RAPL1},
  subtitle={report of two cases and review of the literature},
  year={2011},
  pages={372-379},
  language={eng},
  issn={1552-4833},
  volume={155},
  number={2},
  note={Gesehen am 10.03.2022 ; First published online: 28 October 2010},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.33656},
}
@article{UBHD-68323689,
  author={Behnecke, Anne and Hinderhofer, Katrin and Jauch, Anna and Janssen, Johannes W. G. and Moog, Ute},
  title={Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)},
  year={2012},
  pages={494-498},
  language={eng},
  issn={1399-0004},
  volume={82},
  number={5},
  note={Received 8 July 2011, revised and accepted for publication 26 September 2011, first published: 28 September 2011 ; Gesehen am 31.10.2018},
  journal={Clinical genetics},
  doi={10.1111/j.1399-0004.2011.01792.x},
}
@article{UBHD-68573907,
  author={Bennett, James and Moog, Ute},
  title={Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis},
  year={2016},
  pages={579-587},
  language={eng},
  issn={1537-6605},
  volume={98},
  number={3},
  note={Gesehen am 06.05.2020},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.02.006},
}
@article{UBHD-69008531,
  author={Berkel, Simone and Marshall, Christian R. and Weiß, Birgit and Howe, Jennifer and R{\"o}th, Ralph and Moog, Ute and Endris, Volker and Roberts, Wendy and Szatmari, Peter and Pinto, Dalila and Bonin, Michael and Riess, Angelika and Engels, Hartmut and Sprengel, Rolf and Scherer, Stephen W. and Rappold, Gudrun},
  title={Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation},
  year={2010},
  pages={489-491},
  language={eng},
  issn={1546-1718},
  volume={42},
  number={6},
  note={Gesehen am 20.01.2023},
  journal={Nature genetics},
  doi={10.1038/ng.589},
}
@article{UBHD-68639744,
  author={Blake, Jonathon and Riddell, Andrew and Theiß, Susanne and Gonzalez, Alexis Perez and Haase, Bettina and Jauch, Anna and Janssen, Johannes W. G. and Ibberson, David and Pavlinic, Dinko and Moog, Ute and Benes, Vladimir and Runz, Heiko},
  title={Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation},
  year={2014},
  language={eng},
  issn={1932-6203},
  volume={9(2014},
  note={Gesehen am 23.09.2020},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0090894},
}
@article{UBHD-68661262,
  author={Chen, Ya-Chun and Auer-Grumbach, Michaela and Matsukawa, Shinya and Zitzelsberger, Manuela and Themistocleous, Andreas C. and Strom, Tim M. and Samara, Chrysanthi and Moore, Adrian W. and Cho, Lily Ting-Yin and Young, Gareth T. and Weiss, Caecilia and Schabh{\"u}ttl, Maria and Stucka, Rolf and Schmid, Annina B. and Parman, Yesim and Graul-Neumann, Luitgard and Heinritz, Wolfram and Passarge, Eberhard and Watson, Rosemarie M. and Hertz, Jens Michael and Moog, Ute and Baumgartner, Manuela and Valente, Enza Maria and Pereira, Diego and Restrepo, Carlos M. and Katona, Istvan and Dusl, Marina and Stendel, Claudia and Wieland, Thomas and Stafford, Fay and Reimann, Frank and von Au, Katja and Finke, Christian and Willems, Patrick J. and Nahorski, Michael S. and Shaikh, Samiha S. and Carvalho, Ofélia P. and Nicholas, Adeline K. and Karbani, Gulshan and McAleer, Maeve A. and Cilio, Maria Roberta and McHugh, John C. and Murphy, Sinead M. and Irvine, Alan D. and Jensen, Uffe Birk and Windhager, Reinhard and Weis, Joachim and Bergmann, Carsten and Rautenstrauss, Bernd and Baets, Jonathan and De Jonghe, Peter and Reilly, Mary M. and Kropatsch, Regina and Kurth, Ingo and Chrast, Roman and Michiue, Tatsuo and Bennett, David L. H. and Woods, C. Geoffrey and Senderek, Jan},
  title={Transcriptional regulator PRDM12 is essential for human pain perception},
  year={2015},
  pages={803-808},
  language={eng},
  issn={1546-1718},
  volume={47},
  number={7},
  note={Gesehen am 16.11.2020},
  journal={Nature genetics},
  doi={10.1038/ng.3308},
}
@article{UBHD-67879207,
  author={Dikow, Nicola and Maas, Bianca and Karch, Stephanie and Granzow, Martin and Janssen, Johannes W. G. and Jauch, Anna and Hinderhofer, Katrin and Sutter, Christian and Schubert-Bast, Susanne and Moog, Ute},
  title={3p25.3 Microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior},
  year={2014},
  pages={3061-3068},
  language={eng},
  issn={1552-4833},
  volume={164},
  number={12},
  note={Gesehen am 30.09.2015},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36761},
}
@article{UBHD-69036398,
  author={Dikow, Nicola and Junge, C. and Karch, Stephanie and Hinderhofer, Katrin and Froster, U.G. and Moog, Ute},
  title={Alpha-Thalass{\"a}mie-Retardierungs-Syndrom},
  subtitle={ATRX-Syndrom bei 2 Jungen mit mentaler Retardierung und Muskelhypotonie},
  year={2010},
  pages={1248-1251},
  language={ger},
  issn={1433-0474},
  volume={158},
  number={12},
  note={Gesehen am 02.02.2023},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-010-2244-y},
}
@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-68673938,
  author={Dikow, Nicola and Maas, Bianca and Gaspar, Harald and Kreiss‐Nachtsheim, Martina and Engels, Hartmut and Kuechler, Alma and Garbes, Lutz and Netzer, Christian and Neuhann, Teresa M. and Koehler, Udo and Casteels, Kristina and Devriendt, Koen and Janssen, Johannes W. G. and Jauch, Anna and Hinderhofer, Katrin and Moog, Ute},
  title={The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1},
  subtitle={is it really a reversed sotos syndrome?},
  year={2013},
  pages={2158-2166},
  language={eng},
  issn={1552-4833},
  volume={161},
  number={9},
  note={Gesehen am 16.12.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36046},
}
@article{UBHD-68384920,
  author={Dikow, Nicola and Moog, Ute and Karch, Stephanie and Sander, Anja and Kilian, Samuel and Reuner, Gitta},
  title={What do parents expect from a genetic diagnosis of their child with intellectual disability?},
  year={2019},
  pages={1-9},
  language={eng},
  issn={1468-3148},
  note={Gesehen am 06.05.2019},
  journal={Journal of applied research in intellectual disabilities},
  doi={10.1111/jar.12602},
}
@article{UBHD-69052263,
  author={Endele, Sabine and Rosenberger, Georg and Geider, Kirsten and Popp, Bernt and Tamer, Ceyhun and Stefanova, Irina and Milh, Mathieu and Kort{\"u}m, Fanny and Fritsch, Angela and Pientka, Friederike K. and Hellenbroich, Yorck and Kalscheuer, Vera M. and Kohlhase, J{\"u}rgen and Moog, Ute and Rappold, Gudrun and Rauch, Anita and Ropers, Hans-Hilger and Spiczak, Sarah and T{\"o}nnies, Holger and Villeneuve, Nathalie and Villard, Laurent and Zabel, Bernhard and Zenker, Martin and Laube, Bodo and Reis, André and Wieczorek, Dagmar and Maldergem, Lionel van and Kutsche, Kerstin},
  title={Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes},
  year={2010},
  pages={1021-1026},
  language={eng},
  issn={1061-4036},
  volume={42},
  number={11 vom: Nov.},
  journal={Nature genetics},
}
@article{UBHD-69052481,
  author={Endele, Sabine and Rosenberger, Georg and Geider, Kirsten and Popp, Bernt and Tamer, Ceyhun and Stefanova, Irina and Milh, Mathieu and Kort{\"u}m, Fanny and Fritsch, Angela and Pientka, Friederike K. and Hellenbroich, Yorck and Kalscheuer, Vera M. and Kohlhase, J{\"u}rgen and Moog, Ute and Rappold, Gudrun and Rauch, Anita and Ropers, Hans-Hilger and von Spiczak, Sarah and T{\"o}nnies, Holger and Villeneuve, Nathalie and Villard, Laurent and Zabel, Bernhard and Zenker, Martin and Laube, Bodo and Reis, André and Wieczorek, Dagmar and Van Maldergem, Lionel and Kutsche, Kerstin},
  title={Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes},
  year={2010},
  pages={1021-1026},
  language={eng},
  issn={1546-1718},
  volume={42},
  number={11 vom: Nov.},
  note={Gesehen am 16.03.2023},
  journal={Nature genetics},
  doi={10.1038/ng.677},
}
@article{UBHD-69052495,
  author={Endris, Volker and Hackmann, Karl and Neuhann, Teresa M. and Grasshoff, Ute and Bonin, Michael and Haug, Ulrich and Hahn, Gabriele and Schallner, Jens C. and Schr{\"o}ck, Evelin and Tinschert, Sigrid and Rappold, Gudrun and Moog, Ute},
  title={Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia},
  year={2010},
  pages={2908-2911},
  language={eng},
  issn={1552-4833},
  volume={152A},
  number={11},
  note={Gesehen am 16.03.2023},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.33692},
}
@article{UBHD-68557882,
  author={Erger, Florian and Burau, Karin and Els{\"a}sser, Michael and Zimmermann, Katharina and Moog, Ute and Netzer, Christian},
  title={Uniparental isodisomy as a cause of recessive Mendelian disease},
  subtitle={a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses},
  year={2018},
  pages={1392-1395},
  language={eng},
  issn={1476-5438},
  volume={26},
  number={9},
  note={Gesehen am 25.03.2020},
  journal={European journal of human genetics},
  doi={10.1038/s41431-018-0195-2},
}
@article{UBHD-68590135,
  author={Eßinger, Carla and Karch, Stephanie and Moog, Ute and Fekete, Gy{\"o}rgy and Lengyel, Anna and Pinti, Eva and Eggermann, Thomas and Begemann, Matthias},
  title={Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome},
  year={2020},
  pages={7 S.},
  language={eng},
  issn={1868-7083},
  volume={12(2020},
  note={Gesehen am 23.06.2020},
  journal={Clinical epigenetics},
  doi={10.1186/s13148-020-00856-y},
}
@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-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},
}
@book{UBHD-67934031,
  author={Freunscht, Inga},
  editor={Moog, Ute},
  title={Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene},
  publisher={BioMed Central},
  address={London},
  year={2016},
  pages={1 Online-Ressource (11 Seiten)},
  language={eng},
  note={Aus: Behavioral and Brain Functions, 9 (2013), Nr. 20. pp. 1-11. ISSN 1744-9081 ; Gesehen am 03.02.2016},
  url={http://www.ub.uni-heidelberg.de/archiv/19724},
  library={UB},
}
@article{UBHD-68880084,
  author={Freunscht, Inga and Popp, Bernt and Blank, Rainer and Endele, Sabine and Moog, Ute and Petri, Holger and Prott, Eva-Christina and Reis, André and R{\"u}bo, Jochen and Zabel, Bernhard and Zenker, Martin and Hebebrand, Johannes and Wieczorek, Dagmar},
  title={Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene},
  year={2013},
  pages={1-11},
  language={eng},
  issn={1744-9081},
  volume={9},
  number={Artikel-ID 20},
  note={Gesehen am 01.03.2022},
  journal={Behavioral and brain functions},
  doi={10.1186/1744-9081-9-20},
}
@article{UBHD-68466589,
  author={Gennarino, Vincenzo A. and Moog, Ute},
  title={A Mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures},
  year={2018},
  pages={25 S.},
  language={eng},
  issn={1097-4172},
  volume={172},
  note={Gesehen am 11.12.2019},
  journal={Cell},
  doi={10.1016/j.cell.2018.02.006},
}
@article{UBHD-68989394,
  author={Gieldon, Laura and Jauch, Anna and Obeid, Katharina and Kaufmann, Lilian Tamara and Hinderhofer, Katrin and Haug, Ulrich and Moog, Ute},
  title={Germ cell mosaicism for AUTS2 exon 6 deletion},
  year={2021},
  pages={1261-1265},
  language={eng},
  issn={1552-4833},
  volume={185},
  number={4},
  note={Gesehen am 28.11.2022},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.62091},
  url={https://doi.org/10.1002/ajmg.a.62091},
  library={UB},
}
@article{UBHD-68303094,
  author={G{\"o}hringer, Caroline and Sutter, Christian and Kloor, Matthias and Gebert, Johannes and Keller, Monika and Treiber, Irmgard and Ganschow, Petra and Kadmon, Martina and Moog, Ute},
  title={Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor},
  year={2017},
  pages={303-309},
  language={eng},
  issn={1573-7292},
  volume={16},
  number={2 vom: Apr.},
  note={Online ver{\"o}ffentlicht: 12. November 2016 ; Gesehen am 28.10.2024},
  journal={Familial cancer},
  doi={10.1007/s10689-016-9952-y},
}
@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-68312037,
  author={H{\"a}mmerling, Susanne Hedwig and Behnisch, Wolfgang and Doerks, Tobias and Korbel, Jan Oliver and Bork, Peer and Moog, Ute and Hentze, Sabine and Janssen, Johannes W. G. and Jauch, Anna and Bartram, Claus R. and Koch, Karin and Bandapalli, Obul Reddy and Kulozik, Andreas},
  title={A 15q24 microdeletion in transient myeloproliferative Disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL},
  year={2012},
  pages={180-187},
  language={eng},
  issn={1365-2141},
  volume={157},
  number={2},
  note={Gesehen am 05.10.2018},
  journal={British journal of haematology},
  doi={10.1111/j.1365-2141.2012.09028.x},
}
@article{UBHD-68495533,
  author={Harting, Inga and Karch, Stephanie and Moog, Ute and Seitz, Angelika and Pouwels, Petra J. W. and Wolf, Nicole},
  title={Oculodentodigital dysplasia},
  subtitle={a hypomyelinating leukodystrophy with a characteristic MRI pattern of brain stem involvement},
  year={2019},
  pages={903-907},
  language={eng},
  issn={1936-959X},
  volume={40},
  number={5},
  note={Gesehen am 03.03.2020},
  journal={American journal of neuroradiology},
  doi={10.3174/ajnr.A6051},
}
@article{UBHD-69066054,
  author={Horn, Denise and Kapeller, Johannes and Rivera-Brugués, Núria and Moog, Ute and Lorenz-Depiereux, Bettina and Eck, Sebastian and Hempel, Maja and Wagenstaller, Janine and Gawthrope, Alex and Monaco, Anthony P. and Bonin, Michael and Riess, Olaf and Wohlleber, Eva and Illig, Thomas and Bezzina, Connie R. and Franke, Andre and Spranger, Stephanie and Villavicencio-Lorini, Pablo and Seifert, Wenke and Rosenfeld, Jochen and Klopocki, Eva and Rappold, Gudrun and Strom, Tim M.},
  title={Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits},
  year={2010},
  pages={E1851-E1860},
  language={eng},
  issn={1098-1004},
  volume={31},
  number={11 vom: Nov.},
  note={Published: 16 September 2010 ; Gesehen am 17.04.2023},
  journal={Human mutation},
  doi={10.1002/humu.21362},
}
@article{UBHD-68586284,
  author={Kaiser, Ann-Sophie and Maas, Bianca and Wolff, Anna and Sutter, Christian and Janssen, Johannes W. G. and Hinderhofer, Katrin and Moog, Ute},
  title={Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia},
  year={2015},
  pages={704-707},
  language={eng},
  issn={1476-5438},
  volume={23},
  number={5},
  note={Published online 13 August 2014 ; Gesehen am 16.06.2020},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2014.163},
}
@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},
}
@book{UBHD-67654405,
  editor={Moog, Ute},
  title={Medizinische Genetik f{\"u}r die Praxis},
  subtitle={Diagnostik, Beratung, Fallbeispiele},
  publisher={Thieme},
  address={Stuttgart ; New York},
  year={2014},
  pages={418 S.},
  language={ger},
  isbn={3-13-172721-7 and 978-3-13-172721-3},
  note={Literaturangaben},
  keywords={Humangenetik / Erbkrankheit / Risikofaktor / Genetische Beratung},
  library={UB [Signatur: UBN/WG 7300 M817] ; UB [Signatur: UBN/WG 7300 M817] ; UW [Signatur: B 6 a]},
}
@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-66928134,
  author={Moog, Ute},
  title={Clinical genetic diagnosis in mental retardation},
  subtitle={significance of the diagnosis of rare syndromes, e.g. oculocerebrocutaneous syndrome and encephalocraniocutaneous lipomatosis},
  year={2010},
  pages={Getr. Z{\"a}hlung},
  language={eng},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze},
  school={Heidelberg, Univ., Habil.-Schr., 2010},
  library={UB [Signatur: 2010 U 835]},
}
@article{UBHD-68568014,
  author={Moog, Ute and Dobyns, William B.},
  title={An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome},
  year={2018},
  pages={414-422},
  language={eng},
  issn={1552-4876},
  volume={178},
  number={4},
  note={Gesehen am 20.04.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.c.31667},
}
@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-69071585,
  author={Moog, Ute},
  title={Invited comment},
  year={2010},
  pages={166},
  language={eng},
  issn={1600-0447},
  volume={122},
  number={2},
  note={Gesehen am 03.05.2023},
  journal={Acta psychiatrica Scandinavica},
  doi={10.1111/j.1600-0447.2009.01520.x},
}
@article{UBHD-68961437,
  author={Moog, Ute and Kutsche, Kerstin and Kort{\"u}m, Fanny and Kutsche, Kerstin and Kort{\"u}m, Fanny and Chilian, Bettina and Bierhals, Tatjana and Apeshiotis, Neophytos and Balg, Stefanie and Chassaing, Nicolas and Coubes, Christine and Das, Soma and Engels, Hartmut and Esch, Hilde Van and Grasshoff, Ute and Heise, Marisol and Isidor, Bertrand and Jarvis, Joanna and Koehler, Udo and Martin, Thomas and Oehl-Jaschkowitz, Barbara and Ortibus, Els and Pilz, Daniela T. and Prabhakar, Prab and Rappold, Gudrun and Rau, Isabella and Rettenberger, G{\"u}nther and Schl{\"u}ter, Gregor and Scott, Richard H. and Shoukier, Moonef and Wohlleber, Eva and Zirn, Birgit and Dobyns, William B. and Uyanik, G{\"o}khan},
  title={Phenotypic spectrum associated with CASK loss-of-function mutations},
  year={2011},
  pages={741-751},
  language={eng},
  issn={0022-2593},
  volume={48},
  number={11 vom: Nov.},
  note={Gesehen am 07.09.2022},
  journal={Journal of medical genetics},
}
@article{UBHD-68961674,
  author={Moog, Ute and Kutsche, Kerstin and Kort{\"u}m, Fanny and Kutsche, Kerstin and Kort{\"u}m, Fanny and Chilian, Bettina and Bierhals, Tatjana and Apeshiotis, Neophytos and Balg, Stefanie and Chassaing, Nicolas and Coubes, Christine and Das, Soma and Engels, Hartmut and Esch, Hilde Van and Grasshoff, Ute and Heise, Marisol and Isidor, Bertrand and Jarvis, Joanna and Koehler, Udo and Martin, Thomas and Oehl-Jaschkowitz, Barbara and Ortibus, Els and Pilz, Daniela T. and Prabhakar, Prab and Rappold, Gudrun and Rau, Isabella and Rettenberger, G{\"u}nther and Schl{\"u}ter, Gregor and Scott, Richard H. and Shoukier, Moonef and Wohlleber, Eva and Zirn, Birgit and Dobyns, William B. and Uyanik, G{\"o}khan},
  title={Phenotypic spectrum associated with CASK loss-of-function mutations},
  year={2011},
  pages={741-751},
  language={eng},
  issn={1468-6244},
  volume={48},
  number={11 vom: Nov.},
  note={Gesehen am 07.09.2022},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2011-100218},
}
@article{UBHD-67672319,
  author={Nowaczyk, Małgorzata J. M. and Moog, Ute},
  title={Deletion of MAP2K2/MEK2},
  subtitle={a novel mechanism for a RASopathy?},
  year={2014},
  pages={138-146},
  language={eng},
  issn={1399-0004},
  volume={85},
  number={2},
  note={Gesehen am 10.09.2014},
  journal={Clinical genetics},
  doi={10.1111/cge.12116},
}
@article{UBHD-67672315,
  author={Opladen, Thomas and Sengupta, Devjani and Moog, Ute and Fischer, Christine and B{\"u}rger, Friederike and Haas, Dorothea and Harting, Inga and Hoffmann, Georg F.},
  title={Aspartylglucosaminuria},
  subtitle={unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family},
  year={2014},
  pages={36-42},
  language={eng},
  issn={1708-8283},
  volume={29},
  number={1},
  note={Gesehen am 10.09.2014},
  journal={Journal of child neurology},
  doi={10.1177/0883073812469049},
}
@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-68949759,
  author={Paneque, Milena and Juhé, Clara Serra and Melegh, Bela and Carreira, Isabel and Moog, Ute and Liehr, Thomas},
  title={{\"U}ber die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa},
  year={2022},
  pages={81-83},
  language={ger},
  issn={1863-5490},
  volume={34},
  number={1},
  note={Gesehen am 03.07.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2116},
}
@incollection{UBHD-68379438,
  author={Pietz, Joachim and Moog, Ute and Blank, Rainer},
  title={Entwicklungsst{\"o}rungen und Behinderungen},
  year={2014},
  pages={202-205},
  language={ger},
  isbn={978-3-642-41866-2},
  booktitle={P{\"a}diatrie},
  editor={Hoffmann, Georg F. and Lentze, Michael J. and Spranger, J{\"u}rgen and Zepp, Fred},
}
@article{UBHD-68615113,
  author={Prasad, Megana K. and Geoffroy, Véronique and Vicaire, Serge and Jost, Bernard and Dumas, Michael and Gras, Stéphanie Le and Switala, Marzena and Gasse, Barbara and Laugel-Haushalter, Virginie and Paschaki, Marie and Leheup, Bruno and Droz, Dominique and Dalstein, Amelie and Loing, Adeline and Grollemund, Bruno and Muller-Bolla, Michèle and Lopez-Cazaux, Séréna and Minoux, Maryline and Jung, Sophie and Obry, Frédéric and Vogt, Vincent and Davideau, Jean-Luc and Davit-Beal, Tiphaine and Kaiser, Ann-Sophie and Moog, Ute and Richard, Béatrice and Morrier, Jean-Jacques and Duprez, Jean-Pierre and Odent, Sylvie and Bailleul-Forestier, Isabelle and Rousset, Monique Marie and Merametdijan, Laure and Toutain, Annick and Joseph, Clara and Giuliano, Fabienne and Dahlet, Jean-Christophe and Courval, Aymeric and Alloussi, Mustapha El and Laouina, Samir and Soskin, Sylvie and Guffon, Nathalie and Dieux, Anne and Doray, Bérénice and Feierabend, Stephanie and Ginglinger, Emmanuelle and Fournier, Benjamin and Molla, Muriel de la Dure and Alembik, Yves and Tardieu, Corinne and Clauss, François and Berdal, Ariane and Stoetzel, Corinne and Manière, Marie Cécile and Dollfus, Hélène and Bloch-Zupan, Agnès},
  title={A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement},
  year={2016},
  pages={98-110},
  language={eng},
  issn={1468-6244},
  volume={53},
  number={2},
  note={Published online first 26 October 2015 ; Gesehen am 09.07.2020},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2015-103302},
}
@article{UBHD-68255288,
  author={Reuter, Miriam and Moog, Ute},
  title={FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum},
  year={2017},
  pages={64-72},
  language={eng},
  issn={1468-6244},
  volume={54},
  number={1},
  note={Published Online First 29 August 2016 ; Gesehen am 28.05.2018 ; Im Titel ist "FOXP2" kursiv geschrieben},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2016-104094},
}
@article{UBHD-68379447,
  author={Sch{\"a}fer, Matthias and Kadmon, Martina and Schmidt, Wolfgang and Treiber, Irmgard and Moog, Ute and Sutter, Christian and Stehr, Maximilian},
  title={Neonatal Gardner fibroma leads to detection of familial adenomatous polyposis},
  subtitle={two case reports},
  year={2016},
  pages={17-21},
  language={eng},
  issn={2194-7627},
  volume={4},
  number={1},
  journal={European journal of pediatric surgery reports},
  doi={10.1055/s-0036-1582443},
}
@article{UBHD-68619540,
  author={Schroeder, Christopher Maximilian and Ekici, Arif B{\"u}lent and Moog, Ute and Grasshoff, Ute and Mau-Holzmann, Ulrike and Sturm, Marc and Vosseler, Vanessa and Poths, Sven and Rappold, Gudrun and Riess, Angelika and Riess, Olaf and Dufke, Andreas and Bonin, Michael},
  title={Genome-wide UPD screening in patients with intellectual disability},
  year={2014},
  pages={1233-1235},
  language={eng},
  issn={1476-5438},
  volume={22},
  number={10},
  note={Gesehen am 22.07.2020},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2014.63},
}
@article{UBHD-68637672,
  author={Schroeder, Christopher Maximilian and Riess, A. and Bonin, M. and Bauer, P. and Riess, O. and D{\"o}bler‐Neumann, M. and Wieser, S. and Moog, Ute and Tzschach, A.},
  title={PIK3R1 mutations in SHORT syndrome},
  year={2014},
  pages={292-294},
  language={eng},
  issn={1399-0004},
  volume={86},
  number={3},
  note={Gesehen am 16.09.2020},
  journal={Clinical genetics},
  doi={10.1111/cge.12263},
}
@article{UBHD-68789304,
  author={Schwaibold, Eva and Beygo, Jasmin and Obeid, Katharina and Jauch, Anna and Hinderhofer, Katrin and Moog, Ute},
  title={A boy with Silver-Russell syndrome and Sotos syndrome},
  year={2021},
  pages={549-554},
  language={eng},
  issn={1552-4833},
  volume={185},
  number={2},
  note={First published: 15 November 2020 ; Gesehen am 12.10.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.61967},
  url={https://doi.org/10.1002/ajmg.a.61967},
  library={UB},
}
@article{UBHD-68564563,
  author={Staufner, Christian and Leibner, Alexander and Moog, Ute and Diwan, Gaurav and Dikow, Nicola and Russell, Robert B. and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic},
  title={Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients},
  year={2020},
  pages={610-621},
  language={eng},
  issn={1530-0366},
  volume={22},
  number={3},
  note={Published online: 25 November 2019 ; Gesehen am 15.04.2020},
  journal={Genetics in medicine},
  doi={10.1038/s41436-019-0698-4},
}
@article{UBHD-68240951,
  author={Theil, Arjan F. and Moog, Ute and Kotzaeridou, Urania},
  title={Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue},
  year={2017},
  pages={4689-4698},
  language={eng},
  issn={1460-2083},
  volume={26},
  number={23},
  note={Gesehen am 09.04.2018},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddx351},
}
@article{UBHD-68264797,
  author={Toberer, Ferdinand and Schneiderbauer, Roland and Haußer-Siller, Ingrid and Kr{\"o}hl, Verena and Epple, Andreas and Moog, Ute and Enk, Alexander and Lonsdorf, Anke Susanne},
  title={At first sight or second glance},
  subtitle={clinical presentation of mosaic manifestations of autosomal dominant skin disorders : a case series},
  year={2017},
  pages={1912-1915},
  language={eng},
  issn={1468-3083},
  volume={31},
  number={11},
  note={First published: 25 March 2017 ; Gesehen am 25.06.2018},
  journal={Journal of the European Academy of Dermatology and Venereology},
  doi={10.1111/jdv.14242},
}
@article{UBHD-68681281,
  author={Toberer, Ferdinand and Moog, Ute and Enk, Alexander and Hartschuh, Wolfgang},
  title={Recurrent sebaceous carcinoma on the shoulder},
  year={2020},
  pages={247-250},
  language={eng},
  issn={1610-0387},
  volume={18},
  number={3},
  note={Gesehen am 19.01.2021},
  journal={Journal der Deutschen Dermatologischen Gesellschaft},
  doi={10.1111/ddg.14017},
  url={https://doi.org/10.1111/ddg.14017},
  library={UB},
}
@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-68359313,
  author={Van Dijck, Anke and Moog, Ute},
  title={Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP},
  year={2019},
  pages={287-297},
  language={eng},
  issn={1873-2402},
  volume={85},
  number={4},
  note={Available online 15 March 2018 ; Im Titel ist "ADNP" kursiv geschrieben ; Gesehen am 15.02.2019},
  journal={Biological psychiatry},
  doi={10.1016/j.biopsych.2018.02.1173},
}
@article{UBHD-68312882,
  author={Wolff, Markus and Pietz, Joachim and Moog, Ute and Korenke, Christoph},
  title={Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders},
  year={2017},
  pages={1316-1336},
  language={eng},
  issn={1460-2156},
  volume={140},
  number={5},
  note={Gesehen am 08.10.2018},
  journal={Brain},
  doi={10.1093/brain/awx054},
}