Concepedia

Maie Walsh

MW

Statistics

Publications

19

Citations

1.2K

H-Index

15

Active since

1988

Affiliations

The University of Melbourne(Current)

The Royal Melbourne Hospital

Murdoch Children's Research Institute

Royal Children's Hospital

Melbourne Genomics Health Alliance

Maie Walsh is an author at The University of Melbourne specializing in genetics, life sciences, and medical genetics.

Publications per year

1988–2023

19

Publications

19

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark et al. · JAMA Pediatrics · 2017 · 327 citations

Life Sciences, Genetics, Pediatrics +17

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

F.‐Nora Vögtle, Björn Brändl, Austin Larson et al. · The American Journal of Human Genetics · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Genotype and phenotype spectrum of NRAS germline variants

Franziska Altmüller, Débora Romeo Bertola, Elisabetta Flex et al. · European Journal of Human Genetics · 2017 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati et al. · Brain · 2017 · 44 citations · Full text

Life Sciences, Genetics, Neurology +17

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