Nora Shannon

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

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 214 citations · Full text

Mainzer-saldino Syndrome, Mendelian Disorder, Genetic Disorder +5

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Katie Snape, Sandra Hanks, Elise Ruark et al. · Nature Genetics · 2011 · 168 citations · Full text

Cytogenetics, Cep57 Cause Mosaic, Genetics +7

Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

D.M. Hagan, Alison Ross, T Strachan et al. · The American Journal of Human Genetics · 2000 · 136 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8