-
Østergaard, ST, Johnson, K, Stojkovic, T, Krag, T, De Ridder, W, De Jonghe, P, Baets, J, Claeys, KG, Fernández-Torrón, R, Phillips, L, et al.
Limb girdle muscular dystrophy due to mutations in POMT2.
Journal of Neurology Neurosurgery & Psychiatry
89(5)
:
506
2018
view publication
-
Kaplanis, J, Gordon, A, Shor, T, Weissbrod, O, Geiger, D, Wahl, M, Gershovits, M, Markus, B, Sheikh, M, Gymrek, M, et al.
Quantitative analysis of population-scale family trees with millions of relatives.
Science
360(6385)
:
171 -175
2018
view publication
-
Johnson, K, Bertoli, M, Phillips, L, Blain, A, Ensini, M, Töpf, A, Lek, M, Xu, L, Mullen, T, Valkanas, E, et al.
OD09 An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin.
Neuromuscular Disorders
28:
s39
2018
view publication
-
Sandaradura, SA, Bournazos, A, Mallawaarachchi, A, Cummings, BB, Waddell, LB, Jones, KJ, Troedson, C, Sudarsanam, A, Nash, BM, Peters, GB, et al.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Human Mutation
39(3)
:
383 -388
2018
view publication
-
Tukiainen, T, Villani, A-C, Yen, A, Rivas, MA, Marshall, JL, Satija, R, Aguirre, M, Gauthier, L, Fleharty, M, Kirby, A, et al.
Correction: Corrigendum: Landscape of X chromosome inactivation across human tissues.
Nature
555(7695)
:
274 -274
2018
view publication