Marie Shaw

University of Adelaide - Adelaide / Australia

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 2718

Adelaide University

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Marie Shaw's MOST POPULAR ARTICLES

1-) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...Nature genetics 41 (5), 535-543, 20098482009

2-) Refining analyses of copy number variation identifies specific genes associated with developmental delayBP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...Nature genetics 46 (10), 1063-1071, 20145372014

3-) Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...Nature genetics 49 (4), 515-526, 20175242017

4-) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyP Strømme, ME Mangelsdorf, MA Shaw, KM Lower, SME Lewis, ...Nature genetics 30 (4), 441-445, 20025122002

5-) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...Nature genetics 40 (6), 776-781, 20085052008

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