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Coleman, M.
Genetic diagnoses in a cohort of paediatric brain malformations.
2020
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Coleman, M.
Genetic diagnostic outcomes in a cohort of individuals with cortical malformations.
2020
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Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, et al.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome..
Am J Hum Genet
107(5)
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977 -988
2020
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Bennett, MF, Oliver, KL, Regan, BM, Bellows, ST, Schneider, AL, Rafehi, H, Sikta, N, Crompton, DE, Coleman, M, Hildebrand, MS, et al.
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families..
Eur J Hum Genet
28(7)
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973 -978
2020
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Hildebrand, MS, Jackson, VE, Scerri, TS, Van Reyk, O, Coleman, M, Braden, RO, Turner, S, Rigbye, KA, Boys, A, Barton, S, et al.
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation..
Neurology
94(20)
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e2148 -e2167
2020
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