Ruth Newbury-Ecob

Overview

Best Publications

• Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury ( T ) gene family

  Li Qy;Newbury-Ecob Ra;Newbury-Ecob Ra;Terrett Ja;Wilson Di

  1052
  Citations

• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

  Jacopo Celli;Pascal Duijf;Ben C.J Hamel;Michael Bamshad

  868
  Citations

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

  Jenny Lord;Dominic J McMullan;Ruth Y Eberhardt;Gabriele Rinck

  670
  Citations

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Alejandro Sifrim;Marc-Phillip Hitz;Anna Wilsdon;Jeroen Breckpot

  482
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  Citations

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

  Tarjinder Singh;Mitja I Kurki;David Curtis;Shaun M Purcell

  468
  Citations

• 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;Cornelis A. Albers;Cornelis A. Albers;Dirk S. Paul;Harald Schulze;Kathleen Freson

  464
  Citations

• 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;Eugenio Sangiorgi

  429
  Citations

• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

  Eva Klopocki;Harald Schulze;Gabriele Strauß;Claus-Eric Ott

  353
  Citations

• Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

  Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  331
  Citations

• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  Alexander Hoischen;Bregje W M van Bon;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Christian Gilissen

  305
  Citations

• Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

  Jennifer J. Johnston;Isabelle Olivos-Glander;Christina Killoran;Emma Elson

  299
  Citations

• Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

  Michael N. Weedon;Robert Hastings;Richard Caswell;Weijia Xie

  297
  Citations

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  274
  Citations

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

  Silvia Cappello;Mary J Gray;Caroline Badouel;Caroline Badouel;Simona Lange

  259
  Citations

• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Irene A Aligianis;Colin A Johnson;Paul Gissen;Dongrong Chen

  251
  Citations

• CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

  H L Archer;J Evans;S Edwards;J Colley

  236
  Citations

• Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

  J Kohlhase;L Schubert;M Liebers;A Rauch

  236
  Citations

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

  Lord J;McMullan Dj;Eberhardt Ry;Rinck G

  227
  Citations

• OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

  SP Robertson;Twigg;AJ Sutherland-Smith;Biancalana

  97
  Citations