Alexa Kidd

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid et al. · Nature Genetics · 2004 · 604 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +7

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 504 citations

Mendelian Disorder, Genetic Disorder, Genetics +3

The spectrum of<i>WRN</i>mutations in Werner syndrome patients

Shurong Huang, Lin Lee, Nancy Hanson et al. · Human Mutation · 2006 · 223 citations · Full text

Familial hypercholesterolaemia: A model of care for Australasia

Gerald F. Watts, David Sullivan, Nicola Poplawski et al. · Atherosclerosis Supplements · 2011 · 200 citations

Family Medicine, Familial Hypercholesterolaemia, Hyperlipidemia +2

Germline <i>SMARCB1</i> mutation and somatic <i>NF2</i> mutations in familial multiple meningiomas

Imke Christiaans, S. B. Kenter, H. C. Brink et al. · Journal of Medical Genetics · 2010 · 133 citations · Full text