Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Molecular profiling of driver events in metastatic uveal melanoma.
Nature Communications
Karlsson, Joakim J; Nilsson, Lisa M LM; Mitra, Suman S; Alsén, Samuel S; Shelke, Ganesh Vilas GV; Sah, Vasu R VR; Forsberg, Elin M V EMV; Stierner, Ulrika U; All-Eriksson, Charlotta C; Einarsdottir, Berglind B; Jespersen, Henrik H; Ny, Lars L; Lindnér, Per P; Larsson, Erik E; Olofsson Bagge, Roger R; Nilsson, Jonas A JA
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Molecular Genetics & Genomic Medicine
Katneni, Upendra K UK; Liss, Aaron A; Holcomb, David D; Katagiri, Nobuko H NH; Hunt, Ryan R; Bar, Haim H; Ismail, Amra A; Komar, Anton A AA; Kimchi-Sarfaty, Chava C