2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
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).
American Journal of Human Genetics, 98(2):310–321.
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course
Kallinich, T, Thorwarth, A, von Stuckrad, SL, Rösen-Wolff, A, Luksch, H, Hundsdoerfer, P, Minden, K, and Krawitz, P (2016).
Pediatric Rheumatology, 14(1):63.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
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).
Human Mutation, 37(8):737–744.
Peripheral whole blood microRNA alterations in major depression and bipolar disorder
Maffioletti, E, Cattaneo, A, Rosso, G, Maina, G, Maj, C, Gennarelli, M, Tardito, D, and Bocchio-Chiavetto, L (2016).
Journal of Affective Disorders, 200:250–258.
The role of metabotropic glutamate receptor genes in schizophrenia
Maj, C, Minelli, A, Giacopuzzi, E, Sacchetti, E, and Gennarelli, M (2016).
Current Neuropharmacology, 14(5):540–550.
Nanomedicine in Psychiatry: New Therapeutic Opportunities from Research on Small RNAs
Milanesi, E, Maj, C, Bocchio-Chiavetto, L, and Maffioletti, E (2016).
Drug Development Research, 77(8):453–457.
Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
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).
Clinical Genetics, 89(1):74–81.
Screening diabetic patients for non-Alcoholic fatty liver disease with controlled attenuation parameter and liver stiffness measurements: A prospective cohort study
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).
Gut, 65(8):1359–1368.