Ruth Newbury-Ecob

Ruth Newbury-Ecob publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Ruth Newbury-Ecob sits on this spectrum.

Ruth Newbury-Ecob D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Ruth Newbury-Ecob sits on this spectrum.

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