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Brown, NJ, Kausman, J, Stark, Z.
Triangular lunulae in nail-patella syndrome.
The BMJ
353:
i1371
2024
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Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, MGenCouns, GRB, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.
2020.05.21.20104265
2024
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Sadedin, SP, Dashnow, H, James, PA, Bahlo, M, Bauer, DC, Lonie, A, Lunke, S, Macciocca, I, Ross, JP, Siemering, KR, et al.
Cpipe: a shared variant detection pipeline designed for diagnostic settings.
2024
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Clark, MM, Stark, Z, Farnaes, L, Tan, TY, White, SM, Dimmock, D, Kingsmore, SF.
A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases.
2024
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Brazane, M, Dimitrova, DG, Pigeon, J, Paolantoni, C, Ye, T, Marchand, V, Da Silva, B, Schaefer, E, Angelova, MT, Stark, Z, et al.
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
2024
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