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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 16, 2019
Variants in nuclear factor I genes influence growth and developmentMartin Zenker, Jens Bunt, Ina Schanze, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disordersMiriam S Reuter, Jörn Oliver Sass, Thomas Leis, et al.
Human Molecular Genetics|February 13, 2018
Sema3a plays a role in the pathogenesis of CHARGE syndromeRoser Ufartes, Janina Schwenty-Lara, Luisa Freese, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
European Journal of Medical Genetics|November 4, 2022
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndromeLuz Consuelo Zepeda-Romero, Martin Zenker, Denny Schanze, et al.
Pediatric Neurology|March 31, 2026
Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical DysplasiaLuise Kulosik, Ina Schanze, Pia Zacher, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, et al.
British Journal of Haematology|November 9, 2023
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workupSenthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, et al.
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