Heidi Whitby

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 450 citations

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

Sarah T. South, Heidi Whitby, Agatino Battaglia et al. · European Journal of Human Genetics · 2007 · 115 citations · Full text

Life Sciences, Pathobiology, Human Genetics +7

Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

Sarah T. South, Heidi Whitby, Teresa M. Maxwell et al. · American Journal of Medical Genetics Part A · 2008 · 102 citations

Life Sciences, Genetics, Molecular Genetics +17

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

Sarah T. South, Alan F. Rope, Allen N. Lamb et al. · Journal of Medical Genetics · 2008 · 88 citations

Life Sciences, Genetics, Molecular Genetics +17

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform

E Aston, Heidi Whitby, Teresa M. Maxwell et al. · Journal of Medical Genetics · 2008 · 32 citations

Life Sciences, Genetics, Molecular Genetics +14