Publications by authors named "Margit Shah"

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Navigating an Uninformative Genomic Test Result: A Practical Guide.
Laura St Clair, Claire Wong, Christopher Elliot, Kristi J Jones, Margit Shah

J Paediatr Child Health· March 2025

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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Daphne J Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Margit Shah

HGG Adv· October 2024

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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Alan Ma, Timothy P Newing, Rosie O'Shea, Akira Gokoolparsadh, Emma Murdoch, Margit Shah

J Paediatr Child Health· May 2024

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Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Margit Shah, Arthavan Selvanathan, Gareth Baynam, Yemima Berman, Tiffany Boughtwood

J Paediatr Child Health· January 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Margit Shah

Genet Med· January 2022

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