G
Gerhard Hammersen
Publications - 4
Citations - 701
Gerhard Hammersen is an academic researcher. The author has contributed to research in topics: Microcephaly & Disease gene identification. The author has an hindex of 4, co-authored 4 publications receiving 630 citations.
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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
Francesca Pasutto,Heinrich Sticht,Gerhard Hammersen,Gabriele Gillessen-Kaesbach,David R. FitzPatrick,Gudrun Nürnberg,Frank Brasch,Heidemarie Schirmer-Zimmermann,John Tolmie,David Chitayat,Gunnar Houge,Lorena Fernández-Martínez,Sarah Keating,Geert Mortier,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Axel von der Wense,Anne Slavotinek,Peter Meinecke,Pierre Bitoun,Christian Becker,Peter Nürnberg,André Reis,Anita Rauch +23 more
TL;DR: STRA6 mutations define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.
Journal ArticleDOI
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Birgit Budde,Yasmin Namavar,Peter G. Barth,Bwee Tien Poll-The,Gudrun Nürnberg,Christian Becker,Fred van Ruissen,Marian A. J. Weterman,Kees Fluiter,Erik T. Te Beek,Eleonora Aronica,Marjo S. van der Knaap,Wolfgang Höhne,Mohammad R. Toliat,Yanick J. Crow,Maja Steinlin,Thomas Voit,Filip Roelens,Wim Brussel,Knut Brockmann,Mårten Kyllerman,Eugen Boltshauser,Gerhard Hammersen,Michèl A.A.P. Willemsen,Lina Basel-Vanagaite,Ingeborg Krägeloh-Mann,Linda S. de Vries,László Sztriha,Francesco Muntoni,Colin D. Ferrie,Roberta Battini,Raoul C.M. Hennekam,Eugenio Grillo,Frits A. Beemer,Loes M E Stoets,Bernd Wollnik,Peter Nürnberg,Frank Baas +37 more
TL;DR: This work identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex that point to RNA processing as a new basic cellular impairment in neurological disorders.
Journal ArticleDOI
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Christian Kranz,Christoph Jungeblut,Jonas Denecke,Anne Erlekotte,Christina Sohlbach,V. Debus,Hans Gerd Kehl,Erik Harms,Anna Reith,Sonja Reichel,Helfried Gröbe,Gerhard Hammersen,Ulrich Schwarzer,Thorsten Marquardt +13 more
TL;DR: Four patients who were homozygous for one of two mutations in the corresponding hDK1 gene were identified, and the mutated alleles failed to complement the temperature-sensitive phenotype of DK1-deficient yeast cells, whereas the wild-type allele restored the normal growth phenotype.
Journal ArticleDOI
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
TL;DR: The observation increases the number of cases with fibulin‐4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and arachnodactyly to three.