Boston Children's Hospital


Boston, MA, United States (USA)

Publications in cooperation with FAU scientists

Vivante, A., Chacham, O.S., Shril, S., Schreiber, R., Mane, S.M., Pode-Shakked, B.,... Hildebrandt, F. (2019). Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatric Nephrology.
Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L., Azzarello-Burri, S.,... Rauch, A. (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9), 2043-2058.
Airik, R., Airik, M., Schüler, M., Bates, C.M., & Hildebrandt, F. (2019). Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Kidney International.
Buß, M., Tegtmeyer, N., Schnieder, J., Dong, X., Li, J., Springer, T.A.,... Niemann, H.H. (2019). Specific high affinity interaction of Helicobacter pylori CagL with integrin αVβ6 promotes type IV secretion of CagA into human cells. Febs Journal.
Beziat, V., Li, J., Lin, J.-X., Ma, C.S., Li, P., Bousfiha, A.,... Casanova, J.-L. (2018). A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science immunology, 3(24).
Blok, L.S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H.,... Campeau, P.M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1).
Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57.
Zebrowski, D., Jensen, C.H., Becker, R., Ferrazzi, F., Baun, C., Hvidsten, S.,... Engel, F. (2017). Cardiac injury of the newborn mammalian heart accelerates cardiomyocyte terminal differentiation. Scientific Reports, 7(1), 8362.
Pyzik, M., Rath, T., Kuo, T.T., Win, S., Baker, K., Hubbard, J.J.,... Blumberg, R.S. (2017). Hepatic FcRn regulates albumin homeostasis and susceptibility to liver injury. Proceedings of the National Academy of Sciences of the United States of America, 114(14), E2862-E2871.
D'Gama, A.M., Woodworth, M.B., Hossain, A.A., Bizzotto, S., Hatem, N.E., Lacoursiere, C.M.,... Walsh, C.A. (2017). Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Reports, 21(13), 3754-3766.
Zhuang, H., Han, S., Li, Y., Kienhöfer, D., Lee, P., Shumyak, S.,... Reeves, W.H. (2016). A Novel Mechanism for Generating the Interferon Signature in Lupus: Opsonization of Dead Cells by Complement and IgM. Arthritis and Rheumatology, 68(12), 2917-2928.
Wang, Y., Ma, C.S., Ling, Y., Bousfiha, A., Camcioglu, Y., Jacquot, S.,... Casanova, J.-L. (2016). Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. Journal of Experimental Medicine, 213(11), 2413-2435.
Hamann, J., Aust, G., Arac, D., Engel, F., Formstone, C., Fredriksson, R.,... Schoeith, H.B. (2015). International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. Pharmacological Reviews, 67(2), 338-67.
Perry, J.R.B., Hsu, Y.-H., Chasman, D.I., Johnson, A.D., Elks, C., Albrecht, E.,... Murray, A. (2014). DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Human Molecular Genetics, 23(9), 2490-7.
Liebscher, I., Ackley, B., Arac, D., Ariestanti, D.M., Aust, G., Bae, B.-I.,... Piao, X. (2014). New functions and signaling mechanisms for the class of adhesion G protein-coupled receptors. Annals of the New York Academy of Sciences, 1333(1), 43-64.
Perry, J.R.B., Day, F., Elks, C.E., Sulem, P., Thompson, D.J., Ferreira, T.,... Ong, K.K. (2014). Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature, 514(7520), 92-7.
Bhattacharyya, S., Deb, J., Patra, A.K., Duong Anh Thuy Pham, ., Chen, W., Vaeth, M.,... Serfling, E. (2011). NFATc1 affects mouse splenic B cell function by controlling the calcineurin-NFAT signaling network. Journal of Experimental Medicine, 208(4), 823-839.
Schumacher, V.A., Schlötzer-Schrehardt, U., Karumanchi, S.A., Shi, X., Zaia, J., Jeruschke, S.,... Ai, X. (2011). WT1-dependent sulfatase expression maintains the normal glomerular filtration barrier. Journal of the American Society of Nephrology, 22(7), 1286-96.

Last updated on 2016-06-09 at 13:42