Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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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 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy.
2024
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van der Spek, J, Hoed, JD, Blok, LS, Dingemans, AJM, Schijven, D, Nellaker, C, Venselaar, H, Barakat, TS, Bebin, EM, Beck-Wödl, S, et al.
Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome.
2024
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Van Bergen, NJ, Hock, DH, Spencer, L, Massey, S, Stait, T, Stark, Z, Lunke, S, Roesley, A, Peters, H, Lee, JY, et al.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
International Journal of Molecular Sciences
23(2)
:
986
2024
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Green, TE, Garza, D, Brown, NJ, de Silva, MG, Bennett, MF, Tubb, C, Phillips, RJ, MacGregor, D, Robertson, SJ, Bekhor, P, et al.
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.
Genetics in Medicine Open
2:
100837
2024
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Pua, EPK, Desai, T, Green, C, Trevis, K, Brown, N, Delatycki, M, Scheffer, I, Wilson, S.
Endophenotyping social cognition in the broader autism phenotype.
Autism Research
2023
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