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1. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. Issue 11 (10th October 2016)

2. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. (24th July 2018)

4. Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry study. (November 2021)

5. ETMR-22. TITLE: DEFINING THE CLINICAL AND PROGNOSTIC LANDSCAPE OF EMBRYONAL TUMORS WITH MULTI-LAYERED ROSETTES (ETMRs), A RARE BRAIN TUMOR REGISTRY (RBTC) STUDY. (4th December 2020)

7. NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. Issue 11 (14th October 2019)