F. Lucy Raymond - Concepedia

Author

F. Lucy Raymond

Also Known As

Alasdair P. J. Parker, Alex Richter, Anthony M. Vandersteen, Christopher J Penkett, Claire Harris, David J. Perry, David Perry, David Skuse, Davies, Kay E., Detelina Grozeva

157

Publications

11.5K

Citations

H-Index

110

Concepts

All Affiliations

University of Cambridge University College London Cambridge University Hospitals NHS Foundation Trust Wellcome Sanger Institute Moorfields Eye Hospital

About

F. Lucy Raymond is an author at University of Cambridge specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	36	4.9K
2	Social Sciences	6	6	522
3	Public Health	4	4	493
4	Engineering	1	1	19
5	Natural Sciences	1	1	55

F. Lucy Raymond

Publications

7.7K

Citations

H-Index

Page 1

	Year	Citations
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Patrick Tarpey, Raffaella Smith, Erin Pleasance, Nature Genetics ChromatinPsychiatryGenetic DisorderGeneticsPsychiatric Genetics	2009	613
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Keren Carss, Gavin Arno, Marie Erwood, The American Journal of Human Genetics Whole-genome SequencingAllelic VariantGenetic DisorderMedicineGenetics	2016	463
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Bioinformatics	2019	367
The UK10K project identifies rare variants in health and disease Klaudia Walter, Josine L. Min, Jie Huang, Kölner Universitäts PublikationsServer (Universität zu Köln)	2015	299
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen, Nature Genetics Developmental BiologyGenetic DisorderGeneticsPsychiatric GeneticsNonsyndromic Mental Retardation	2007	284
Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease C. Geoffrey Woods, James J. Cox, Kelly Springell, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology	2006	264
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome Gregor D. Gilfillan, Kaja Kristine Selmer, Ingrid Roxrud, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPsychiatric GeneticsFragile X Spectrum	2008	235
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans Paul Tuijnenburg, Hana Lango Allen, Siobhan O. Burns, Journal of Allergy and Clinical Immunology Primary ImmunodeficiencyDisease SusceptibilityImmune Cell DevelopmentGeneticsImmunodeficiencies	2018	227
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Nature Genetics Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsPathogenesis	2006	211
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Peter Green, Matthew Wiseman, Yanick J. Crow, The American Journal of Human Genetics Genetic DisorderCongenital DisordersProgressive Supranuclear PalsyNeurologyPonto-bulbar Palsy	2010	195

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