Bonafe, L, Cormier-Daire, V, Hall, C, Lachman, R, Mortier, G, Mundlos, S, Nishimura, G, Sangiorgi, L, Savarirayan, R, Sillence, D, et al.
Nosology and classification of genetic skeletal disorders: 2015 revision.
American Journal of Medical Genetics Part A
167(12)
:
2869 -2892
2015
view publication
Stark, Z, Behrsin, J, Burgess, T, Ritchie, A, Yeung, A, Tan, TY, Brown, NJ, Savarirayan, R, Patel, N.
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
American Journal of Medical Genetics Part A
167(10)
:
2319 -2326
2015
view publication
Flöttmann, R, Wagner, J, Kobus, K, Curry, CJ, Savarirayan, R, Nishimura, G, Yasui, N, Spranger, J, Van Esch, H, Lyons, MJ, et al.
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
Journal of Medical Genetics
52(7)
:
476
2015
view publication
Garbes, L, Kim, K, Rieß, A, Hoyer-Kuhn, H, Beleggia, F, Bevot, A, Kim, MJ, Huh, YH, Kweon, H-S, Savarirayan, R, et al.
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta.
American Journal of Human Genetics
96(3)
:
432 -439
2015
view publication
Banka, S, Lederer, D, Benoit, V, Jenkins, E, Howard, E, Bunstone, S, Kerr, B, McKee, S, Lloyd, IC, Shears, D, et al.
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2).
Clinical Genetics
87(3)
:
252 -258
2015
view publication