Human Mutation
Journal Abbreviation: HUM MUTAT
ISSN: 1059-7794
eISSN: 1098-1004
Publisher: Wiley-Blackwell
Publications (20)
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity (2018)
Colombo M, Lopez-Perolio I, Meeks HD, Caleca L, Parsons MT, Li H, De Vecchi G, et al.
Journal article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency (2016)
Saunier C, Stove SI, Popp B, Gerard B, Blenski M, Ahmew N, De Bie C, et al.
Journal article
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation (2015)
Zahnleiter D, Hauer N, Keßler K, Uebe S, Sugano Y, Neuhauss SCF, Gießl A, et al.
Journal article
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability (2015)
Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, et al.
Journal article
Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila (2014)
Gregor A, Kramer JM, Van Der Voet M, Schanze I, Uebe S, Donders R, Reis A, et al.
Journal article
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 syndrome (2014)
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, et al.
Journal article
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I (2011)
Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, et al.
Journal article
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity (2010)
Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, et al.
Journal article
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of Campomelic Dysplasia. (2010)
Wegner M
Journal article, Original article
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease (2009)
Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, et al.
Journal article, Original article