-
Cabrera, M, Ravenscroft, G, Andersen, E, McLean, C, Azmanov, D, Stark, Z, Davis, M, Kornberg, A, Ryan, M, Laing, N.
P.180 Severe autosomal recessive congenital hypomyelinating neuropathy causing death in the first four months of life.
Neuromuscular Disorders
26:
s140 -s141
2016
view publication
-
Buena-Atienza, E, RĂ¼ther, K, Baumann, B, Bergholz, R, Birch, D, De Baere, E, Dollfus, H, Greally, MT, Gustavsson, P, Hamel, CP, et al.
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy..
Sci Rep
6:
28253
2016
view publication
-
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..
Genet Med
18(5)
:
483 -493
2016
view publication
-
Wilson, BT, Lochan, A, Stark, Z, Sutton, RE.
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome..
Am J Med Genet A
170(3)
:
773 -776
2016
view publication
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Reijnders, MRF, Zachariadis, V, Latour, B, Jolly, L, Mancini, GM, Pfundt, R, Wu, KM, van Ravenswaaij-Arts, CMA, Veenstra-Knol, HE, Anderlid, B-MM, et al.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations..
Am J Hum Genet
98(2)
:
373 -381
2016
view publication