Pontus LeBlanc

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

P. Verloo, P. Boon, B. Poppe, 2022, Orphanet Journal of Rare Diseases.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

J. Shorter, S. Janssens, B. Dermaut, 2023, Acta Neuropathologica.