Ruth Newbury-Ecob

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.

Richard S Houlston, J. Tolmie, R. Houlston, 2004, Nucleic acids research.

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Michael Bamshad, Gert Vriend, Hans van Bokhoven, 1999, Cell.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Ana Cvejic, Panos Deloukas, Matthew E Hurles, 2012, Nature Genetics.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Minna Männikkö, David Curtis, Peter Holmans, 2016, Nature Neuroscience.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Charles E. Schwartz, Eva Morava, Denise Horn, 2003, Nature Genetics.