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2016

This folder holds the following references to publications, sorted by year and author.

There are 8 references in this bibliography folder.

Jansen, JC, Cirak, S, Van Scherpenzeel, M, Timal, S, Reunert, J, Rust, S, Pérez, B, Vicogne, D, Krawitz, P, Wada, Y, Ashikov, A, Pérez-Cerdá, C, Medrano, C, Arnoldy, A, Hoischen, A, Huijben, K, Steenbergen, G, Quelhas, D, Diogo, L, Rymen, D, Jaeken, J, Guffon, N, Cheillan, D, Van Den Heuvel, LP, Maeda, Y, Kaiser, O, Schara, U, Gerner, P, Van Den Boogert, MA, Holleboom, AG, Nassogne, MC, Sokal, E, Salomon, J, Van Den Bogaart, G, Drenth, JP, Huynen, MA, Veltman, JA, Wevers, RA, Morava, E, Matthijs, G, Foulquier, F, Marquardt, T, and Lefeber, DJ (2016).
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
American Journal of Human Genetics, 98(2):310–321.

Kallinich, T, Thorwarth, A, von Stuckrad, SL, Rösen-Wolff, A, Luksch, H, Hundsdoerfer, P, Minden, K, and Krawitz, P (2016).
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course
Pediatric Rheumatology, 14(1):63.

Knaus, A, Awaya, T, Helbig, I, Afawi, Z, Pendziwiat, M, Abu-Rachma, J, Thompson, MD, Cole, DE, Skinner, S, Annese, F, Canham, N, Schweiger, MR, Robinson, PN, Mundlos, S, Kinoshita, T, Munnich, A, Murakami, Y, Horn, D, and Krawitz, PM (2016).
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
Human Mutation, 37(8):737–744.

Maffioletti, E, Cattaneo, A, Rosso, G, Maina, G, Maj, C, Gennarelli, M, Tardito, D, and Bocchio-Chiavetto, L (2016).
Peripheral whole blood microRNA alterations in major depression and bipolar disorder
Journal of Affective Disorders, 200:250–258.

Maj, C, Minelli, A, Giacopuzzi, E, Sacchetti, E, and Gennarelli, M (2016).
The role of metabotropic glutamate receptor genes in schizophrenia
Current Neuropharmacology, 14(5):540–550.

Milanesi, E, Maj, C, Bocchio-Chiavetto, L, and Maffioletti, E (2016).
Nanomedicine in Psychiatry: New Therapeutic Opportunities from Research on Small RNAs
Drug Development Research, 77(8):453–457.

Parenti, I, Gervasini, C, Pozojevic, J, Graul-Neumann, L, Azzollini, J, Braunholz, D, Watrin, E, Wendt, KS, Cereda, A, Cittaro, D, Gillessen-Kaesbach, G, Lazarevic, D, Mariani, M, Russo, S, Werner, R, Krawitz, P, Larizza, L, Selicorni, A, and Kaiser, FJ (2016).
Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
Clinical Genetics, 89(1):74–81.

Raymond, K, Kai Chow, C, Grace Lai Hung, W, Yuying, Z, Henry Lik Yuen, C, Aandrea On Yan, L, Sally She Ting, S, Anthony Wing Hung, C, Ming Wai, Y, Juliana Chung Ngor, C, and Alice Pik Shan, K (2016).
Screening diabetic patients for non-Alcoholic fatty liver disease with controlled attenuation parameter and liver stiffness measurements: A prospective cohort study
Gut, 65(8):1359–1368.

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