References

2015
2014
  • Peter M. Krawitz, Daniela Schiska, Ulrike Krüger, Sandra Appelt, Verena Heinrich, Dmitri Parkhomchuk, Bernd Timmermann, Jose M. Millan, Peter N. Robinson, Stefan Mundlos, Jochen Hecht and Manfred Gross
    Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
    Molecular Genetics & Genomic Medicine, 2014
  • Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valerie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff,1 Amit Kawalia, Holger Thiele,Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter M. Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, and Stefan Mundlos
    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
    The American Journal of Human Genetics, 2014.
  • Nadja Ehmke, Nima Parvaneh, Peter Krawitz, Mahmoud-Reza Ashrafi, Parviz Karimi, Mehrzad Mehdizadeh, Ulrike Krüger, Jochen Hecht, Stefan Mundlos, and Peter N. Robinson
    First Description of a Patient With Vici Syndrome Due to A Mutation Affecting the Penultimate Exon of EPG5 and Review of the Literature
    American Journal of Medical Genetics, 2014.
  • Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N. Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos and Denise Horn
    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
    European Journal of Human Genetics, 2014.
  • Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer-Haas, Björn Fischer, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne Mitchell, Stefan Mundlos, John A. Phillips, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, and Peter M. Krawitz
    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation.
    Am. J. Human Genetics, 2014.
  • Parenti I., Gervasini C., Pozojevic J., Graul-Neumann L., Azzollini J., Braunholz D., Watrin E., Wendt K.S., Cereda A., Cittaro D., Gillessen-Kaesbach G., Lazarevic D., Mariani M., Russo S., Werner R., Krawitz P., Larizza L., Selicorni A., Kaiser
    Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
    Clin Genet, 2015.
2013
2012