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Unpublished / Preprint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

Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome (2014) Charbonneau B, Moysich KB, Kalli KR, Oberg AL, Vierkant RA, Fogarty ZC, Block MS, et al. Journal article Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy (2014) Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Sticht H, et al. Journal article A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency (2014) Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, et al. Journal article Variation in NF-?B signaling pathways and survival in invasive epithelial ovarian cancer (2014) Block MS, Charbonneau B, Vierkant RA, Fogarty Z, Bamlet WR, Pharoah PDP, Chenevix-Trench G, et al. Journal article Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade (2014) Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, Bojesen SE, et al. Journal article Genetic predisposition to in situ and invasive lobular carcinoma of the breast (2014) Sawyer E, Roylance R, Petridis C, Brook MN, Nowinski S, Papouli E, Fletcher O, et al. Journal article Identification of new genetic susceptibility Loci for breast cancer through consideration of gene-environment interactions (2014) Schoeps A, Rudolph A, Seibold P, Dunning AM, Milne RL, Bojesen SE, Swerdlow A, et al. Journal article Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease (2014) Winner B, Marchetto MC, Winkler J, Gage FH Journal article Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons (2014) Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, et al. Journal article, Original article Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer (2014) Purrington KS, Slager S, Eccles D, Yannoukakos D, Fasching PA, Miron P, Carpenter J, et al. Journal article