Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Fanjul‐Fernández, M, Brown, NJ, Hickey, P, Diakumis, P, Rafehi, H, Bozaoglu, K, Green, CC, Rattray, A, Young, S, Alhuzaimi, D, et al.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Human Mutation
43(1)
:
16 -29
2022
view publication
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Brown, NJ, Ye, Z, Stutterd, C, Jayasinghe, SI, Schneider, A, Mullen, SA, Mandelstam, SA, Hildebrand, MS.
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
Molecular Case Studies
7(6)
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mcs.a006127
2021
view publication
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Ma, A, Grigg, JR, Flaherty, M, Smith, J, Minoche, AE, Cowley, MJ, Nash, BM, Ho, G, Gayagay, T, Lai, T, et al.
Genome sequencing in congenital cataracts improves diagnostic yield.
Human Mutation
42(9)
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1173 -1183
2021
view publication
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Voisin, N, Schnur, RE, Douzgou, S, Hiatt, SM, Rustad, CF, Brown, NJ, Earl, DL, Keren, B, Levchenko, O, Geuer, S, et al.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
American Journal of Human Genetics
108(5)
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857 -873
2021
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Yeung, A, Tan, NB, Tan, TY, Stark, Z, Brown, N, Hunter, MF, Delatycki, M, Stutterd, C, Savarirayan, R, Mcgillivray, G, et al.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genetics in Medicine
22(12)
:
1986 -1993
2020
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