Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Akesson, LS, Rius, R, Brown, NJ, Rosenbaum, J, Donoghue, S, Stormon, M, Chai, C, Bordador, E, Guo, Y, Hakonarson, H, et al.
Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies.
63(3)
:
240 -249
2022
view publication
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Broly, M, Polevoda, BV, Awayda, KM, Tong, N, Lentini, J, Besnard, T, Deb, W, O'Rourke, D, Baptista, J, Ellard, S, et al.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
American Journal of Human Genetics
109(4)
:
587 -600
2022
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Lee, J, Kiss, S, Amor, DJ, Brown, NJ, Hardikar, W, Hong, KM, MacGregor, D, Marty, M, Marum, J, Pai, G, et al.
Disorders in sterol metabolism: A case series.
Pathology
54:
s14
2022
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Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, et al.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Human Molecular Genetics
31(3)
:
ddab265-
2022
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Kumble, S, Levy, AM, Punetha, J, Gao, H, Mew, NA, Anyane‐Yeboa, K, Benke, PJ, Berger, SM, Bjerglund, L, Campos‐Xavier, B, et al.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Human Mutation
43(2)
:
266 -282
2022
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