Concepedia

Rachael M. Duff

RM

Statistics

Publications

11

Citations

977

H-Index

11

Active since

2001

Affiliations

The University of Western Australia(Current)

Harry Perkins Institute of Medical Research

Royal Perth Hospital

Pathwest Laboratory Medicine

Queen Elizabeth II Medical Centre

Rachael M. Duff is an author at The University of Western Australia specializing in molecular genetics, medical genetics, and human genetics.

ORCID

Publications per year

2001–2020

11

Publications

11

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher S. Meredith, Ralf Herrmann, Cheryl Parry et al. · The American Journal of Human Genetics · 2004 · 228 citations · Full text

, , +11

Airway Microbiota in Severe Asthma and Relationship to Asthma Severity and Phenotypes

Qingling Zhang, Michael J. Cox, Zhike Liang et al. · PLoS ONE · 2016 · 198 citations · Full text

, , +15

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé et al. · The American Journal of Human Genetics · 2010 · 161 citations · Full text

, , +9

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman et al. · The American Journal of Human Genetics · 2011 · 147 citations · Full text

, , +16

Myosin storage myopathy: Slow skeletal myosin ( <i>MYH7</i> ) mutation in two isolated cases

Nigel G. Laing, Chantal Ceuterick‐de Groote, Danielle E. Dye et al. · Neurology · 2005 · 57 citations

, , +12

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