Lettie E. Rawlins - Concepedia

Author

Lettie E. Rawlins

Royal Devon & Exeter NHS Foundation Trust ORCID

Also Known As

Andew Crosby, L Rawlins, L. Rawlins, Lettie E Rawlins, Lettie E. Rawlins, Lettie Rawlins, LettieE. Rawlins

Publications

567

Citations

H-Index

Concepts

All Affiliations

Royal Devon & Exeter NHS Foundation Trust University of Exeter Royal Devon and Exeter Hospital Heavitree Hospital Clinic for Special Children

About

Lettie E. Rawlins is an author at Royal Devon & Exeter NHS Foundation Trust specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	334
2	Arts	1	1	24
3	Health Sciences	1	1	72
4	Natural Sciences	1	1	77
5	Social Sciences	1	1	11

Lettie E. Rawlins

Publications

511

Citations

H-Index

Page 1

	Year	Citations
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Bo Yuan, Juanita Neira, Davut Pehli̇van, Genetics in Medicine BioinformaticsMendelian DisorderGenetic DisorderMedicineGenetics	2018	87
A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi, Brain GeneticsSpastic ParaparesisSignaling PathwayNeurologyHereditary Spastic Paraplegia	2016	77
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro, Brain Brain DevelopmentGeneticsMolecular BiologyNeurodevelopmentCerebral Organoid	2017	72
Effect of listening to Nellie the Elephant during CPR training on performance of chest compressions by lay people: randomised crossover trial Lettie E. Rawlins, Malcolm Woollard, Julia Williams, BMJ	2009	46
MNS1 variant associated with situs inversus and male infertility Joseph S. Leslie, Lettie E. Rawlins, Barry A. Chioza, European Journal of Human Genetics	2019	36
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Brain GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationMitochondrial Myopathy	2022	35
Achy breaky makey wakey heart? A randomised crossover trial of musical prompts Malcolm Woollard, Jason Poposki, Brae McWhinnie, Emergency Medicine Journal	2011	28
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia Lettie E. Rawlins, Hannah Jones, Olivia Wenger, European Journal of Human Genetics Renal DysplasiaUrologyDevelopmental BiologyPathologyAmish Founder Variant	2019	28
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia Lettie E. Rawlins, Karen Stals, Julian D. Eason, Clinical Dysmorphology Diaphragmatic HerniaLiterary TheoryGeneticsPathologyDisease Gene Identification	2016	24
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, BMC Medical Genetics	2019	22

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