Boston Children's Hospital

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study (2025) Roesch S, O'Sullivan A, Tschani S, Baghdasaryan A, Balasubramaniam S, Barić I, de Boer L, et al. Journal article Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs (2025) Bizzotto S, Talukdar M, Stronge EA, Ramirez RB, Yang Y, Huang AY, Hu Q, et al. Journal article Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families (2025) Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, et al. Journal article Loss of genome maintenance is linked to mTOR complex 1 signaling and accelerates podocyte damage (2025) Braun F, Mandel AM, Blomberg L, Wong MN, Chatzinikolaou G, Meyer DH, Reinelt A, et al. Journal article RNA-binding proteins and glycoRNAs form domains on the cell surface for cell-penetrating peptide entry (2025) Perr J, Langen A, Almahayni K, Nestola G, Chai P, Lebedenko CG, Volk RF, et al. Journal article RNA-binding proteins and glycoRNAs form domains on the cell surface for cell-penetrating peptide entry (2025) Perr J, Langen A, Almahayni K, Nestola G, Chai P, Lebedenko CG, Volk RF, et al. Journal article TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies. (2025) Kalanithy JC, Mingardo E, Stegmann JD, Dhakar R, Dakal TC, Rosenfeld JA, Tan WH, et al. Journal article Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders (2025) Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, et al. Journal article Treatment of acute myeloid leukemia models by targeting a cell surface RNA-binding protein (2025) George BM, Eleftheriou M, Yankova E, Perr J, Chai P, Nestola GL, Almahayni K, et al. Journal article Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction (2024) Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK, Abubakar M, et al. Journal article