Boston Children's Hospital

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 Whole exome sequencing of patients with steroid-resistant nephrotic syndrome (2018) Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, et al. Journal article Comprehensive Molecular Characterization of the Hippo Signaling Pathway in Cancer. (2018) Wang Y, Xu X, Maglic D, Dill MT, Mojumdar K, Ng PKS, Jeong KJ, et al. Journal article A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity (2018) Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, et al. Journal article CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Journal article Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly (2017) Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, et al. Journal article