Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study

Ed C. Schwalbe, Janet C. Lindsey, Sirintra Nakjang, +15

The Lancet Oncology

Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity

Yura Grabovska, Alan Mackay, Patricia O’Hare, +20

Nature Communications

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sárközy, Nuria Muelas, +18

Brain

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Yaqun Zou, Daniela Zwolanek, Yayoi Izu, +16

Human Molecular Genetics

EngineeringGeneticsPathologyCytoskeletonDisease Gene Identification +19

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

C. Jimenez‐Mallebrera, Maria Antonietta Maioli, Jihee Kim, +9

Neuromuscular Disorders

Skeletal MusclePathologyCollagen Vi ProductionDermatologyComparative Analysis +3

Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial

Tobias Goschzik, Ed C. Schwalbe, Debbie Hicks, +8

The Lancet Oncology

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Debbie Hicks, Golara Torabi Farsani, S.H. Laval, +11

Human Molecular Genetics

Natural history of pulmonary function in collagen VI-related myopathies

A. Reghan Foley, Susana Quijano‐Roy, James J. Collins, +18

Brain

Muscle FunctionPathologyMitochondrial MyopathyKinesiologyMuscle Injury +21

Time, pattern, and outcome of medulloblastoma relapse and their association with tumour biology at diagnosis and therapy: a multicentre cohort study

Rebecca M. Hill, Stacey Richardson, Ed C. Schwalbe, +13

The Lancet Child & Adolescent Health

Muscle MRI findings in limb girdle muscular dystrophy type 2L

Anna Sárközy, Marcus Deschauer, Robert‐Yves Carlier, +18

Neuromuscular Disorders

Imaging AnatomyKinesiologyMedicineMuscle Mri FindingsNeuropathology +4