Boston Children's Hospital

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019) Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al. Conference contribution Specific high affinity interaction of Helicobacter pylori CagL with integrin αVβ6 promotes type IV secretion of CagA into human cells (2019) Buß M, Tegtmeyer N, Schnieder J, Dong X, Li J, Springer TA, Backert S, Niemann HH Journal article Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019) Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al. Journal article De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Conference contribution Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children (2019) Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys (2019) Airik R, Airik M, Schüler M, Bates CM, Hildebrandt F Journal article Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children (2019) Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, et al. Journal article Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract (2018) Van Der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, et al. Journal article