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Ruth Newbury‐Ecob | doi.page

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Ruth Newbury‐Ecob

St Michael's Hospital(GB)St Michaels Hospital(GB)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Prenatal Screening and Diagnostics

Most-Cited Works

→ Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome(1999)713 cited
→ Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study(2019)698 cited
→ Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
→ Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders(2016)472 cited
→ Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
→ Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans(2003)428 cited
→

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

(2012)

421 cited

→ p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation(2001)377 cited

→ Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome(2007)367 cited

→ Barth syndrome(2013)363 cited