Concepedia
Statistics
Publications
67
Citations
8.2K
H-Index
42
Active since
1984
Affiliations
The University of Adelaide(Current)
Hunter Genetics
Women's and Children's Hospital
South Australia Pathology
South Australian Health and Medical Research Institute
Marie Shaw is an author at The University of Adelaide specializing in medicine, genetics, and molecular genetics.
Top concepts
MedicineGeneticsMolecular GeneticsFragile X SpectrumNeurogeneticsDevelopmental BiologyNeuroscienceSocial SciencesNeurodevelopmental DisordersPathology
Publications per year
1984–2024
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 734 citations · Full text
Developmental Biology, Developmental Genetics, Genetics +8
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 613 citations · Full text
Chromatin, Psychiatry, Genetic Disorder +11
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text
Neurodevelopmental Disorders, Syndromic Autism, Genetics +13
Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis.
M. Cabrera, Marie Shaw, Claire E. Sharples et al. · The Journal of Experimental Medicine · 1995 · 454 citations · Full text
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 441 citations · Full text
Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11
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