Meriel McEntagart - Concepedia

Author

Meriel McEntagart

St George’s University Hospitals NHS Foundation Trust

Also Known As

Angus Clarke, Anirban Majumdar, C. Mercer, Catherine McWilliam, Fiona Maleady-Crowe, J. Mitchell, Karen Marks, M. McEntagart, McEntagart, Meriel, Melissa Lees

Publications

4.1K

Citations

H-Index

Concepts

All Affiliations

St George’s University Hospitals NHS Foundation Trust University College London University of Manchester University of Ulster Belfast City Hospital

About

Meriel McEntagart is an author at St George’s University Hospitals NHS Foundation Trust specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	1.3K
2	Public Health	2	2	216
3	Genetic Medicine	2	2	106
4	Social Sciences	1	1	97
5	Biology	1	1	83

Meriel McEntagart

Publications

2.5K

Citations

H-Index

Page 1

	Year	Citations
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathology	2012	276
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Magdalena Koczkowska, Yunjia Chen, Tom Callens, The American Journal of Human Genetics	2017	203
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum Siddharth Banka, Ratna Veeramachaneni, William Reardon, European Journal of Human Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics	2011	180
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism Morad Ansari, Gemma Poke, Quentin R. V. Ferry, Journal of Medical Genetics	2014	165
Genotype–phenotype correlations in X-linked myotubular myopathy Meriel McEntagart, Gretchen Parsons, Anna Buj‐Bello, Neuromuscular Disorders Genetic DisorderGeneticsGenotype–phenotype CorrelationsPathologyMedicine	2002	151
Clinical and genetic aspects of KBG syndrome Karen Low, Tazeen Ashraf, Natalie Canham, American Journal of Medical Genetics Part A	2016	136
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment Cemre Celen, Jen‐Chieh Chuang, Xin Luo, eLife	2017	110
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, The American Journal of Human Genetics	2016	101
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
Pathogenicity and selective constraint on variation near splice sites Jenny Lord, Giuseppe Gallone, Patrick Short, Genome Research Healthy SubjectsGeneticsRna SplicingPathologyMolecular Genetics	2018	94

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