Lorraine Gaunt - Concepedia

Author

Lorraine Gaunt

Also Known As

Carol Gardiner, Emma Gray, Kay Metcalfe, L Gaunt, L. Gaunt, LORRAINE GAUNT, Lisa Bradley, Lorraine Gaunt, Neeti Ghali, Sofia Douzgou

Publications

3.2K

Citations

H-Index

Concepts

All Affiliations

St Mary's Hospital St. Mary's Hospital University of Manchester Wellcome Sanger Institute Churchill Hospital

About

Lorraine Gaunt is an author at St Mary's Hospital specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	598
2	Health Sciences	1	1	284
3	Public Health	1	1	36
4	Social Sciences	1	1	97
5	Genetic Medicine	1	1	36

Lorraine Gaunt

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Heather C. Mefford, Andrew J. Sharp, Carl Baker, New England Journal of Medicine	2008	803
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia Yilong Li, Claire Schwab, Sarra Ryan, Nature Somatic RearrangementChromatinHematological MalignancyAcute Lymphoblastic LeukaemiaCytogenetics	2014	284
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres Anne Slavotinek, Marjorie Rosenberg, Samantha J.L. Knight, Journal of Medical Genetics	1999	135
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
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Feng Li, Yiping Shen, U Köhler, European Journal of Medical Genetics Genetic DisorderGeneticsInterstitial MicroduplicationPathologyMedicine	2010	79
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements Annabel Whibley, Jill Urquhart, Jonathan K. Dore, European Journal of Human Genetics NeuroanatomyMotor DisorderNeurologyNeuroscienceCentral Nervous System	2010	53
A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus Carolyn J. Watson, Lorraine Gaunt, D. Gareth Evans, Human Molecular Genetics	1993	50
Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Exome SequencingGeneticsGenetic EpidemiologyDisease Gene IdentificationGenomics	2016	36
Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis Sara Hamilton, J G Ayres, Narinder Sanghera, Clinical Genetics	2007	26
The 5q – syndrome: an underdiagnosed form of macrocytic anaemia Hazel Tinegate, Lorraine Gaunt, Peter J. Hamilton British Journal of Haematology	1983	22

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