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Publications in heiBIB     

• Paneque, Milena: Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa / Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog und Thomas Liehr, 7. Mai 2022. - 3 S.
  In: Medizinische Genetik, ISSN 1863-5490. 34(2022), 1, Seite 81-83
  DOI: 10.1515/medgen-2022-2116
• Gieldon, Laura: Germ cell mosaicism for AUTS2 exon 6 deletion / Laura Gieldon, Anna Jauch, Katharina Obeid, Lilian Kaufmann, Katrin Hinderhofer, Ulrich Haug, Ute Mo… , 12 February 2021. - 5 S.
  In: American journal of medical genetics, ISSN 1552-4833. 185(2021), 4, Seite 1261-1265
  DOI: 10.1002/ajmg.a.62091
• Schwaibold, Eva: A boy with Silver-Russell syndrome and Sotos syndrome / Eva M.C. Schwaibold, Jasmin Beygo, Katharina Obeid, Anna Jauch, Katrin Hinderhofer, Ute Moog, 2021. - 6 S.
  In: American journal of medical genetics, ISSN 1552-4833. 185(2021), 2, Seite 549-554
  DOI: 10.1002/ajmg.a.61967
• Toberer, Ferdinand: Recurrent sebaceous carcinoma on the shoulder / Ferdinand Toberer, Ute Moog, Alexander Enk, Wolfgang Hartschuh, 10 January 2020. - 4 S.
  In: Journal der Deutschen Dermatologischen Gesellschaft, ISSN 1610-0387. 18(2020), 3, Seite 247-250
  DOI: 10.1111/ddg.14017
• Eßinger, Carla: Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome / Carla Eßinger, Stephanie Karch, Ute Moog, György Fekete, Anna Lengyel, Eva Pinti, Thomas Eggermann a… , 11 May 2020. - 7 S.
  In: Clinical epigenetics, ISSN 1868-7083. 12(2020,1) Artikel-Nummer 63, 7 Seiten
  DOI: 10.1186/s13148-020-00856-y
• Staufner, Christian: Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients / Christian Staufner, MD, Bianca Peters, Matias Wagner, MD, Seham Alameer, MD, Ivo Barić, MD, PhD, Pie… , 2020. - 12 S.
  In: Genetics in medicine, ISSN 1530-0366. 22(2020), 3, Seite 610-621
  DOI: 10.1038/s41436-019-0698-4
• Harting, Inga: Oculodentodigital dysplasia : a hypomyelinating leukodystrophy with a characteristic MRI pattern of brain stem involvement / I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, and N.I. Wolf, 1 May 2019. - 5 S.
  In: American journal of neuroradiology, ISSN 1936-959X. 40(2019), 5, Seite 903-907
  DOI: 10.3174/ajnr.A6051
• Dikow, Nicola: What do parents expect from a genetic diagnosis of their child with intellectual disability? / Nicola Dikow, Ute Moog, Stephanie Karch, Anja Sander, Samuel Kilian, Rainer Blank, Gitta Reuner, 15 April 2019. - 9 S.
  In: Journal of applied research in intellectual disabilities, ISSN 1468-3148. (2019), Seite 1-9
  DOI: 10.1111/jar.12602
• Ott, Tim: The frog Xenopus as a model to study Joubert syndrome : the case of a human patient with compound heterozygous variants in PIBF1 / Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angel… , 25 February 2019. - 13 S.
  In: Frontiers in physiology, ISSN 1664-042X. 10(2019) Artikel-Nummer 134, 13 Seiten
  DOI: 10.3389/fphys.2019.00134
• Moog, Ute: An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome / Ute Moog, William B. Dobyns, 22 December 2018. - 9 S.
  In: American journal of medical genetics, ISSN 1552-4876. 178(2018), 4, Seite 414-422
  DOI: 10.1002/ajmg.c.31667
• Erger, Florian: Uniparental isodisomy as a cause of recessive Mendelian disease : a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses / Florian Erger, Karin Burau, Michael Elsässer, Katharina Zimmermann, Ute Moog, Christian Netzer, 11 June 2018. - 4 S.
  In: European journal of human genetics, ISSN 1476-5438. 26(2018), 9, Seite 1392-1395
  DOI: 10.1038/s41431-018-0195-2
• Gennarino, Vincenzo A.: A Mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures / Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda K… , February 22, 2018. - 25 S.
  In: Cell, ISSN 1097-4172. 172(2018), 5, Seite 924–936,e1–e7
  DOI: 10.1016/j.cell.2018.02.006
• Van Dijck, Anke: Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP / Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M. Mancin… . - 11 S.
  In: Biological psychiatry, ISSN 1873-2402. 85(2019), 4, S. 287-297
  DOI: 10.1016/j.biopsych.2018.02.1173
• Küry, Sébastien: De Novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability / Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Megha… , November 2017. - 21 S.
  In: The American journal of human genetics, ISSN 1537-6605. 101(2017), 5, Seite 768-788
  DOI: 10.1016/j.ajhg.2017.10.003
• Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… . - 11 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, S. 297-307
  DOI: 10.1016/j.ymgme.2017.06.014
• Evers, Christina: Diagnosis of CoPAN by whole exome sequencing : waking up a sleeping tiger's eye / Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer… . - 9 S.
  In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 7, S. 1878-1886
  DOI: 10.1002/ajmg.a.38252
• Dikow, Nicola: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome / Nicola Dikow, Martin Granzow, Luitgard M. Graul‐Neumann, Stephanie Karch, Katrin Hinderhofer, Nagara… . - 5 S.
  In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 5, S. 1369-1373
  DOI: 10.1002/ajmg.a.38164
• Wolff, Markus: Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders / Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gard… , 04 April 2017. - 21 S.
  In: Brain, ISSN 1460-2156. 140(2017), 5, Seite 1316-1336
  DOI: 10.1093/brain/awx054
• Toberer, Ferdinand: At first sight or second glance : clinical presentation of mosaic manifestations of autosomal dominant skin disorders : a case series / F. Toberer, R. Happle, R. Schneiderbauer, I. Hausser, V. Kröhl, A. Epple, U. Moog, A.H. Enk, A.S. Lo… . - 4 S.
  In: Journal of the European Academy of Dermatology and Venereology, ISSN 1468-3083. 31(2017), 11, S. 1912-1915
  DOI: 10.1111/jdv.14242
• Reuter, Miriam: FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum / Miriam S. Reuter, Angelika Riess, Ute Moog, Tracy A. Briggs, Kate E. Chandler, Anita Rauch, Miriam S… . - 9 S.
  In: Journal of medical genetics, ISSN 1468-6244. 54(2017), 1, S. 64-72
  DOI: 10.1136/jmedgenet-2016-104094
• Alcantara, Diana: Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly / Diana Alcantara, Andrew E. Timms, Karen Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Cheng, F… . - 13 S.
  In: Brain, ISSN 1460-2156. 140(2017), 10, S. 2610-2622
  DOI: 10.1093/brain/awx203
• Theil, Arjan F.: Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue / Arjan F. Theil, Imke K. Mandemaker, Emile van den Akker, Sigrid M.A. Swagemakers, Anja Raams, Tatjan… . - 10 S.
  In: Human molecular genetics, ISSN 1460-2083. 26(2017), 23, S. 4689-4698
  DOI: 10.1093/hmg/ddx351
• Bennett, James: Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis / James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana Jensen, S… , 3 March 2016. - 9 S.
  In: The American journal of human genetics, ISSN 1537-6605. 98(2016), 3, Seite 579-587
  DOI: 10.1016/j.ajhg.2016.02.006
• Schäfer, Matthias: Neonatal Gardner fibroma leads to detection of familial adenomatous polyposis : two case reports / Mattias Schäfer, Martina Kadmon, Wolfgang Schmidt, Irmgard Treiber, Ute Moog, Christian Sutter, Maxi… , 2016. - 5 S.
  In: European journal of pediatric surgery reports, ISSN 2194-7627. 4(2016), 1, Seite 17-21
  DOI: 10.1055/s-0036-1582443
• Evers, Christina: Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy / Christina Evers, Lilian Kaufmann, Angelika Seitz, Nagarajan Paramasivam, Martin Granzow, Stephanie K… . - 8 S.
  In: American journal of medical genetics, ISSN 1552-4833. 170(2016), 6, S. 1502-1509
  DOI: 10.1002/ajmg.a.37632
• Göhringer, Caroline: Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor / Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P. Slater, Monika Kell… , 2017. - 7 S. : Illustrationen
  In: Familial cancer, ISSN 1573-7292. 16(2017), 2 vom: Apr., Seite 303-309
  DOI: 10.1007/s10689-016-9952-y
• Chen, Ya-Chun: Transcriptional regulator PRDM12 is essential for human pain perception / Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C. Themistocl… , 25 May 2015. - 6 S.
  In: Nature genetics, ISSN 1546-1718. 47(2015), 7, Seite 803-808
  DOI: 10.1038/ng.3308
• Evers, Christina: SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract / Christina Evers, Nagarajan Paramasivam, Katrin Hinderhofer, Christine Fischer, Martin Granzow, Annet… , 25 March 2015. - 7 S.
  In: European journal of human genetics, ISSN 1476-5438. 23(2015), 12, Seite 1627-1633
  DOI: 10.1038/ejhg.2015.46
• Evers, Christina: Duplication Xp11.22-p14 in females : does X-inactivation help in assessing their significance? / Christina Evers, Diana Mitter, Gertrud Strobl‐Wildemann, Ulrich Haug, Karl Hackmann, Bianca Maas, Jo… , 18 February 2015. - 10 S.
  In: American journal of medical genetics, ISSN 1552-4833. 167(2015), 3, Seite 553-562
  DOI: 10.1002/ajmg.a.36897
• Prasad, Megana K.: A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement / Megana K. Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michael Dumas, Stéphanie Le Gras,… , 2016. - 13 S.
  In: Journal of medical genetics, ISSN 1468-6244. 53(2016), 2, Seite 98-110
  DOI: 10.1136/jmedgenet-2015-103302
• Moog, Ute: Phenotypic and molecular insights into CASK-related disorders in males, 2015. - 20 S.
  In: Orphanet journal of rare diseases, ISSN 1750-1172. Bd. 10.2015, Art.-Nr. 44, insges. 20 S.
  DOI: 10.1186/s13023-015-0256-3
• Avila, Magali: Clinical reappraisal of SHORT syndrome with PIK3R1 mutations : toward recommendation for molecular testing and management / M. Avila, D.A. Dyment, J.V. Sagen, J. St‐Onge, U. Moog, B.H.Y. Chung, S. Mo, S. Mansour, A. Albanese… , 2016. - 6 S.
  In: Clinical genetics, ISSN 1399-0004. 89(2016), 4, Seite 501-506
  DOI: 10.1111/cge.12688
• Tzschach, Andreas: Next-generation sequencing in X-linked intellectual disability / Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, C… . - 6 S.
  In: European journal of human genetics, ISSN 1476-5438. 23(2015), 11, S. 1513-1518
  DOI: 10.1038/ejhg.2015.5
• Granzow, Martin: Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing : lessons of the bioinformatics pipeline / M. Granzow, N. Paramasivam, K. Hinderhofer, C. Fischer, S. Chotewutmontri, L. Kaufmann, C. Evers, U.… . - 7 S.
  In: Molecular and cellular probes, ISSN 1096-1194. 29(2015), 5, S. 323-329
  DOI: 10.1016/j.mcp.2015.05.012
• Moog, Ute: Phenotypic and molecular insights into CASK-related disorders in males / Ute Moog; Tatjana Bierhals; Kristina Brand; Jan Bautsch; Saskia Biskup; Thomas Brune; Jonas Denecke;… . -
  London: BioMed Central, 2016. - 1 Online-Ressource (20 Seiten)
• Aslan, Deniz: Oculoectodermal syndrome : report of a new case with a broad clinical spectrum / Deniz Aslan, Rustu Fikret Akata, Julia Schröder, Rudolf Happle, Ute Moog, and Oliver Bartsch, 22 September 2014. - 5 S.
  In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 11, Seite 2947-2951
  DOI: 10.1002/ajmg.a.36727
• Blake, Jonathon: Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation / Jonathon Blake, Andrew Riddell, Susanne Theiss, Alexis Perez Gonzalez, Bettina Haase, Anna Jauch, Jo… , March 13, 2014
  In: PLOS ONE, ISSN 1932-6203. 9(2014,3) Artikel-Nummer e90894, 11 Seiten
  DOI: 10.1371/journal.pone.0090894
• Schroeder, Christopher Maximilian: PIK3R1 mutations in SHORT syndrome / Schroeder C., Riess A., Bonin M., Bauer P., Riess O., Döbler-Neumann M., Wieser S., Moog U., Tzschac… , [2014]. - 3 S. : Illustrationen
  In: Clinical genetics, ISSN 1399-0004. 86(2014), 3, Seite 292-294
  DOI: 10.1111/cge.12263
• Schroeder, Christopher Maximilian: Genome-wide UPD screening in patients with intellectual disability / Christopher Schroeder, Arif Bülent Ekici, Ute Moog, Ute Grasshoff, Ulrike Mau-Holzmann, Marc Sturm, … , 7 May 2014. - 3 S.
  In: European journal of human genetics, ISSN 1476-5438. 22(2014), 10, Seite 1233-1235
  DOI: 10.1038/ejhg.2014.63
• Kaiser, Ann-Sophie: Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia / Ann-Sophie Kaiser, Bianca Maas, Anna Wolff, Christian Sutter, Johannes WG Janssen, Katrin Hinderhofe… , 2015. - 4 S.
  In: European journal of human genetics, ISSN 1476-5438. 23(2015), 5, Seite 704-707
  DOI: 10.1038/ejhg.2014.163
• Pietz, Joachim: Entwicklungsstörungen und Behinderungen / Joachim Pietz; Ute Moog; Rainer Blank, 2014. - 4 S.
  In: Pädiatrie. (2014), Seite 202-205
• Evers, Christina: Mosaic deletion of EXOC6B : further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability / Christina Evers, Bianca Maas, Karin A. Koch, Anna Jauch, Johannes W.G. Janssen, Christian Sutter, Mi… . - 7 S.
  In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 12, S. 3088-3094
  DOI: 10.1002/ajmg.a.36770
• Dikow, Nicola: 3p25.3 Microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior / Nicola Dikow, Bianca Maas, Stephanie Karch, Martin Granzow, Johannes W. G. Janssen, Anna Jauch, Katr… . - 8 S.
  In: American journal of medical genetics, ISSN 1552-4833. 164(2014), 12, S. 3061-3068
  DOI: 10.1002/ajmg.a.36761
• Nowaczyk, Małgorzata J. M.: Deletion of MAP2K2/MEK2 : a novel mechanism for a RASopathy? / M.J.M. Nowaczyk, B.A. Thompson, S. Zeesman, U. Moog, P.A. Sanchez‐Lara, P.L. Magoulas, R.E. Falk, J.… . - 9 S.
  In: Clinical genetics, ISSN 1399-0004. 85(2014), 2, S. 138-146
  DOI: 10.1111/cge.12116
• Opladen, Thomas: Aspartylglucosaminuria : unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family / Opladen, Thomas ; Ebinger, Friedrich ; Zschocke, Johannes ; Sengupta, Devjani ; Ben-Omran, Tawfeg ; … . - 7 S.
  In: Journal of child neurology, ISSN 1708-8283. 29(2014), 1, S. 36-42
  DOI: 10.1177/0883073812469049
• Medizinische Genetik für die Praxis : Diagnostik, Beratung, Fallbeispiele / hrsg. von Ute Moog, Olaf Rieß. Mit Beitr. von Stefan Aretz .... -
  Stuttgart ; New York: Thieme, c 2014. - 418 S. : Ill., graph. Darst., ISBN 978-3-13-172721-3
• Freunscht, Inga: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene / Inga Freunscht, Bernt Popp , Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva-Christina Prot… , 29 May 2013. - 11 S.
  In: Behavioral and brain functions, ISSN 1744-9081. 9(2013), Artikel-ID 20, Seite 1-11
  DOI: 10.1186/1744-9081-9-20
• Dikow, Nicola: The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : is it really a reversed sotos syndrome? / Nicola Dikow, Bianca Maas, Harald Gaspar, Martina Kreiss‐Nachtsheim, Hartmut Engels, Alma Kuechler, … , 2 August 2013. - 9 S.
  In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 9, Seite 2158-2166
  DOI: 10.1002/ajmg.a.36046
• Evers, Christina: Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1 : further insights into a genetic paradox / C. Evers, M.S. Jungwirth, J. Morgenthaler, K. Hinderhofer, B. Maas, J.W.G. Janssen, A. Jauch, U. Heh… , 2014. - 6 S.
  In: Clinical genetics, ISSN 1399-0004. 85(2014), 4, Seite 347-353
  DOI: 10.1111/cge.12171
• Freunscht, Inga: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene / Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva-Christina Prott… . -
  London: BioMed Central, 2016. - 1 Online-Ressource (11 Seiten)
• Evers, Christina: A small terminal deletion 11q in a boy without Jacobsen syndrome : narrowing the critical region for the 11q Jacobsen syndrome phenotype / Christina Evers, Johannes W.G. Janssen, Anna Jauch, Michael Bonin, and Ute Moog, March 2012. - 5 S.
  In: American journal of medical genetics, ISSN 1552-4833. 158A(2012), 3, Seite 680-684
  DOI: 10.1002/ajmg.a.34433
• Evers, Christina: Hepatoblastoma in two siblings and familial adenomatous polyposis : causal nexus or coincidence? / Christina Evers, Harald Gaspar, Matthias Kloor, Gergana Bozukova, Martina Kadmon, Monika Keller, Chr… , September 2012. - 5 S.
  In: Familial cancer, ISSN 1573-7292. 11(2012), 3, Seite 529-533
  DOI: 10.1007/s10689-012-9538-2
• Behnecke, Anne: How fingers and face can be the clue? / A. Behnecke, N. Dikow and U. Moog, March 2012. - 2 S.
  In: European journal of neurology, ISSN 1468-1331. 19(2012), 3, Seite e27-e28
  DOI: 10.1111/j.1468-1331.2011.03622.x
• Behnecke, Anne: Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13) / Behnecke A, Hinderhofer K, Jauch A, Janssen JWG, Moog U, November 2012. - 5 S.
  In: Clinical genetics, ISSN 1399-0004. 82(2012), 5, Seite 494-498
  DOI: 10.1111/j.1399-0004.2011.01792.x
• Hämmerling, Susanne Hedwig: A 15q24 microdeletion in transient myeloproliferative Disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL / Susanne Haemmerling, Wolfgang Behnisch, Tobias Doerks, Jan O. Korbel, Peer Bork, Ute Moog, Sabine He… , 1 February 2012. - 8 S.
  In: British journal of haematology, ISSN 1365-2141. 157(2012), 2, Seite 180-187
  DOI: 10.1111/j.1365-2141.2012.09028.x
• Moog, Ute: Phenotypic spectrum associated with CASK loss-of-function mutations / Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, St… , 27 September 2011. - 11 S.
  In: Journal of medical genetics, ISSN 1468-6244. 48(2011), 11 vom: Nov., Seite 741-751
  DOI: 10.1136/jmedgenet-2011-100218
• Moog, Ute: Phenotypic spectrum associated with CASK loss-of-function mutations / Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, St… , 2011. - 11 S.
  In: Journal of medical genetics, ISSN 0022-2593. 48(2011), 11 vom: Nov., Seite 741-751
• Evers, Christina: Pseudoautosomal inheritance of Léri-Weill syndrome : what does it mean? / C. Evers, P.H. Heidemann, D. Dunstheimer, E. Schulze, C. Haag, J.W.G. Janssen, C. Fischer, A. Jauch … , 07 April 2011. - 6 S.
  In: Clinical genetics, ISSN 1399-0004. 79(2011), 5, Seite 489-494
  DOI: 10.1111/j.1399-0004.2010.01488.x
• Behnecke, Anne: Intragenic deletions of IL1RAPL1 : report of two cases and review of the literature / Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, Astrid Nümann, Marie-Luise Ipach, Natalja Damatov… , 2011. - 8 S.
  In: American journal of medical genetics, ISSN 1552-4833. 155(2011), 2, Seite 372-379
  DOI: 10.1002/ajmg.a.33656
• Allanson, Judith E.: Rett syndrome : A study of the face / Judith E. Allanson, Raoul C.M. Hennekam, Ute Moog, and Eric E. Smeets, 27 May 2011. - 5 S.
  In: American journal of medical genetics, ISSN 1552-4833. 155(2011), 7, Seite 1563-1567
  DOI: 10.1002/ajmg.a.34027
• Moog, Ute: Invited comment / Ute Moog, MD, PhD, 02 July 2010. - 1 S.
  In: Acta psychiatrica Scandinavica, ISSN 1600-0447. 122(2010), 2, Seite 166
  DOI: 10.1111/j.1600-0447.2009.01520.x
• Horn, Denise: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits / Denise Horn, Johannes Kapeller, Núria Rivera-Brugués, Ute Moog, Bettina Lorenz-Depiereux, Sebastian … , [November 2010]. - 10 S. : Illustrationen
  In: Human mutation, ISSN 1098-1004. 31(2010), 11 vom: Nov., Seite E1851-E1860
  DOI: 10.1002/humu.21362
• Endris, Volker: Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia / Volker Endris, Karl Hackmann, Teresa M. Neuhann, Ute Grasshoff, Michael Bonin, Ulrich Haug, Gabriele… , 12 October 2010. - 4 S.
  In: American journal of medical genetics, ISSN 1552-4833. 152A(2010), 11, Seite 2908-2911
  DOI: 10.1002/ajmg.a.33692
• Endele, Sabine: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes / Sabine Endele, Georg Rosenberger, Kirsten Geider, Bernt Popp, Ceyhun Tamer, Irina Stefanova, Mathieu… , 3 October 2010. - 6 S.
  In: Nature genetics, ISSN 1546-1718. 42(2010), 11 vom: Nov., Seite 1021-1026
  DOI: 10.1038/ng.677
• Endele, Sabine: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes / Sabine Endele, Georg Rosenberger, Kirsten Geider, Bernt Popp, Ceyhun Tamer, Irina Stefanova, Mathieu… , 2010. - 6 S.
  In: Nature genetics, ISSN 1061-4036. 42(2010), 11 vom: Nov., Seite 1021-1026
• Dikow, Nicola: Alpha-Thalassämie-Retardierungs-Syndrom : ATRX-Syndrom bei 2 Jungen mit mentaler Retardierung und Muskelhypotonie / N. Dikow, C. Junge, S. Karch, K. Hinderhofer, U.G. Froster, U. Moog, 9. Juli 2010. - 4 S.
  In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 158(2010), 12, Seite 1248-1251
  DOI: 10.1007/s00112-010-2244-y
• Berkel, Simone: Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation / Simone Berkel, Christian R. Marshall, Birgit Weiss, Jennifer Howe, Ralph Roeth, Ute Moog, Volker End… , 16 May 2010. - 3 S.
  In: Nature genetics, ISSN 1546-1718. 42(2010), 6, Seite 489-491
  DOI: 10.1038/ng.589
• Moog, Ute: Clinical genetic diagnosis in mental retardation : significance of the diagnosis of rare syndromes, e.g. oculocerebrocutaneous syndrome and encephalocraniocutaneous lipomatosis / vorgelegt von Ute Moog, 2010. - Getr. Zählung : Ill., graph. Darst.

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