Ruth Newbury‐Ecob - Concepedia

Author

Ruth Newbury‐Ecob

Also Known As

Andrew Norman, DDD Study, Damien Haye, Eyby L. Leon, H. Mountford, Jukka S Moilanen, Karen Low, Katrina Tatton‐Brown, Kay Metcalfe, Michael J. Parker

151

Publications

12.5K

Citations

H-Index

140

Concepts

All Affiliations

St Michael's Hospital University Hospitals Bristol NHS Foundation Trust Radboud University Nijmegen University College London University of Bristol

About

Ruth Newbury‐Ecob is an author at St Michael's Hospital specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	35	51	6.6K
2	Natural Sciences	2	2	340
3	Education	1	1	37
4	Health Sciences	1	1	18
5	Nursing	1	1	37

Ruth Newbury‐Ecob

Publications

8.6K

Citations

H-Index

Page 1

	Year	Citations
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Cell Eec SyndromeMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	1999	709
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, The Lancet	2019	694
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, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderCytoskeletal ProteinGenetics	2003	426
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, Nature Genetics Compound InheritanceMendelian DisorderGenetic DisorderGeneticsGenomic Mechanism	2012	419
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, The American Journal of Human Genetics Eec SyndromeDevelopmental BiologyGenetic DisorderGeneticsPathology	2001	376
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome Eva Klopocki, Harald Schulze, Gabriele Strauß, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsHematologyClinical Genetics	2007	367
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, The American Journal of Human Genetics Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics	2015	324
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease Michael N. Weedon, Robert Hastings, Richard Caswell, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderExome SequencingGeneticsPathology	2011	285
Mutation in myosin heavy chain 6 causes atrial septal defect Yung‐Hao Ching, Tushar K. Ghosh, Steve J. Cross, Nature Genetics Atrial Septal DefectCardiac MuscleCardiomyopathyGeneticsPathology	2005	283
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago, Nature Genetics Somatic VariantAutoimmune DiseaseMendelian DisorderGenetic DisorderGenetics	2011	277

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