Boston Children's Hospital

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 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 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 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 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 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 Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition (2024) Kapp FG, Bazgir F, Mahammadzade N, Mehrabipour M, Vassella E, Bernhard SM, Döring Y, et al. Journal article Clinical Data Do Not Reliably Predict Duodenal Histology at Follow-up in Celiac Disease: A 13 Center Correlative Study (2024) Patel N, Leffler DA, Al-Toma A, Mulder CJ, Elli L, Gan G, Patil P, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article