-
Howell, KB, Eggers, S, Dalziel, K, Riseley, J, Mandelstam, S, Myers, CT, McMahon, JM, Schneider, A, Carvill, GL, Mefford, HC, et al. A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.
Epilepsia
59(6)
:
1177 -1187
2018
view publication
-
Todd, EJ, Ong, R, Barnett, C, Slee, J, Ryan, M, Howell, K, Sivadorai, P, Davis, MR, Allcock, RJN, Laing, NG, et al. P.9.14 Next generation sequencing provides diagnosis for multiple foetal akinesia disorders.
Neuromuscular Disorders
23(9-10)
:
787 -788
2013
view publication
-
Howell, KB, Forbes, R, Burgess, T, O’Reilly, D, DuSart, D, Chong, B, Clarke, N, McLean, CA, Leventer, RJ, Laing, NG, et al. D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies.
Neuromuscular Disorders
22(9-10)
:
805 -806
2012
view publication
-
Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, et al. Epileptic spasms are a feature of DEPDC5 mTORopathy.
Neurology Genetics
1(2)
:
&na
2015
view publication
-
Marques, I, Sá, MJ, Soares, G, do Céu Mota, M, Pinheiro, C, Aguiar, L, Amado, M, Soares, C, Calado, A, Dias, P, et al. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Molecular Genetics & Genomic Medicine
3(3)
:
203 -214
2015
view publication