-
Wilson, BT, Stark, Z, Sutton, RE, Danda, S, Ekbote, AV, Elsayed, SM, Gibson, L, Goodship, JA, Jackson, AP, Keng, WT, et al.
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Genetics in Medicine
18(5)
:
483 -493
2016
view publication
-
Avila, M, Dyment, DA, Sagen, JV, StāOnge, J, Moog, U, Chung, BHY, Mo, S, Mansour, S, Albanese, A, Garcia, S, et al.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Clinical Genetics
89(4)
:
501 -506
2016
view publication
-
Huang, L, Vanstone, MR, Hartley, T, Osmond, M, Barrowman, N, Allanson, J, Baker, L, Dabir, TA, Dipple, KM, Dobyns, WB, et al.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Human Mutation
37(2)
:
148 -154
2016
view publication
-
Sadedin, SP, Dashnow, H, James, PA, Bahlo, M, Bauer, DC, Lonie, A, Lunke, S, Macciocca, I, Ross, JP, Siemering, KR, et al.
Cpipe: a shared variant detection pipeline designed for diagnostic settings.
Genome Medicine
7(1)
:
68
2015
view publication
-
Morgan, AT, Mei, C, Da Costa, A, Fifer, J, Lederer, D, Benoit, V, McMillin, MJ, Buckingham, KJ, Bamshad, MJ, Pope, K, et al.
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
American Journal of Medical Genetics Part A
167(7)
:
1483 -1492
2015
view publication