Institute of Human Genetics


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome (2015) Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, et al. Journal article A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (2015) Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, et al. Journal article De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2015) Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, Van Bokhoven H, Van Den Boogaard MJH, et al. Journal article Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors (2015) Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, et al. Journal article Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk (2015) Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, et al. Journal article Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling (2015) Vasileiou G, Ekici AB, Urebe S, Zweier C, Hoyer J, Engels H, Behrens J, et al. Journal article Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes (2015) Bramswig NC, Luedecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, et al. Journal article Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer (2015) Kabisch M, Bermejo JL, Duennebier T, Ying S, Michailidou K, Bolla MK, Wang Q, et al. Journal article IL-7 Abrogates the Immunosuppressive Function of Human Double-Negative T Cells by Activating Akt/mTOR Signaling (2015) Allgäuer A, Schreiner E, Ferrazzi F, Ekici AB, Gerbitz A, Mackensen A, Voelkl S Journal article Identification of novel genetic markers of breast cancer survival (2015) Guo Q, Schmidt MK, Kraft P, Canisius S, Chen C, Khan S, Tyrer J, et al. Journal article