Joanne Peverall

Atypical nested 22q11.2 duplications between <scp>LCR</scp>22B and <scp>LCR</scp>22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Karen Woodward, Julie Stampalia, Hannah Vanyai et al. · Molecular Genetics & Genomic Medicine · 2019 · 37 citations · Full text

Identification of a novel deletion of the entire <i>OCRL1</i> gene detected by FISH analysis in a family with Lowe syndrome

Joanne Peverall, Edward Edkins, Jack Goldblatt et al. · Clinical Genetics · 2000 · 23 citations

Detection of Y‐chromosome in gonadal tumours using fluorescence <i>in situ</i> hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome

Colin J.R. Stewart, Eva H. Baker, Ceri Beaton et al. · Histopathology · 2007 · 19 citations

Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion

Kristen L. Nowak, P. J. Walsh, R. Jacob et al. · Neuromuscular Disorders · 2000 · 19 citations

The Ratio of X- and Y-Bearing Sperm in Ejaculates of Men with Three or More Children of the Same Sex

Jacquelyn Irving, A.H. Bittles, Joanne Peverall et al. · Journal of Assisted Reproduction and Genetics · 1999 · 18 citations · Full text