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Sleiman, S, Marshall, AE, Dong, X, Mhanni, A, Alidou-D'Anjou, I, Frosk, P, Marin, SE, Stark, Z, Del Bigio, MR, McBride, A, et al.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia..
Hum Mol Genet
31(4)
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614 -624
2022
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Stark, Z, Ellard, S.
Rapid genomic testing for critically ill children: time to become standard of care?.
Eur J Hum Genet
30(2)
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142 -149
2022
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Horton, A, Hong, KM, Pandithan, D, Allen, M, Killick, C, Goergen, S, Springer, A, Phelan, D, Marty, M, Halligan, R, et al.
Ethylmalonic encephalopathy masquerading as meningococcemia..
Cold Spring Harb Mol Case Stud
8(2)
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2022
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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..
Int J Mol Sci
23(2)
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2022
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Bournazos, AM, Riley, LG, Bommireddipalli, S, Ades, L, Akesson, LS, Al-Shinnag, M, Alexander, SI, Archibald, AD, Balasubramaniam, S, Berman, Y, et al.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants..
Genet Med
24(1)
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130 -145
2022
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