Ruth Newbury‐Ecob

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

Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel et al. · Cell · 1999 · 709 citations · Full text

Eec Syndrome, Mendelian Disorder, Genetic Disorder +8

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

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

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 419 citations

Compound Inheritance, Mendelian Disorder, Genetic Disorder +8

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 376 citations · Full text

Eec Syndrome, Developmental Biology, Genetic Disorder +8