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White, M, McGillivray, G, White, SM, Zacharin, MR.
First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome‐wide paternal uniparental disomy.
American Journal of Medical Genetics Part A
170(12)
:
3352 -3355
2016
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Stark, Z, Tan, TY, Chong, B, Brett, GR, Yap, P, Walsh, M, Yeung, A, Peters, H, Mordaunt, D, Cowie, S, et al.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genetics in Medicine
18(11)
:
1090 -1096
2016
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Wilkins, EJ, Archibald, AD, Sahhar, MA, White, SM.
“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result.
American Journal of Medical Genetics Part A
170(11)
:
2895 -2904
2016
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Burns, C, Cheung, A, Stark, Z, Choo, S, Downie, L, White, S, Conyers, R, Cole, T.
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature.
The Journal of Allergy and Clinical Immunology In Practice
4(4)
:
777 -779
2016
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Mastrangelo, M, Scheffer, IE, Bramswig, NC, Nair, LDV, Myers, CT, Dentici, ML, Korenke, GC, Schoch, K, Campeau, PM, White, SM, et al.
Epilepsy in KCNH1‐related syndromes.
Epileptic Disorders
18(2)
:
123 -136
2016
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