Shelagh Joss - Concepedia

Author

Shelagh Joss

Queen Elizabeth University Hospital ORCID

Also Known As

Alex Henderson, Anne Lampe, Beckie Kaemba, Carol Gardiner, Dragana Josifova, J Tolmie, Joss, S, Joss, Shelagh, K.L. Jones, Mark Hamilton

106

Publications

5.9K

Citations

H-Index

Concepts

All Affiliations

Queen Elizabeth University Hospital Inserm University of Manchester University College London Radboud University Medical Center

About

Shelagh Joss is an author at Queen Elizabeth University Hospital specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	19	1.5K
2	Social Sciences	4	4	139
3	Public Health	3	3	683
4	Natural Sciences	2	2	194
5	Anatomy	1	1	21

Shelagh Joss

Publications

3.4K

Citations

H-Index

Page 1

	Year	Citations
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart, Brain Population ChildrenGenetic TestingGenetic DisorderGenetic EpidemiologyPediatrics	2019	433
<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Nicole Revençu, Laurence M. Boon, Antonella Mendola, Human Mutation	2013	282
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants Joseph D. Symonds, Katherine S. Elliott, Jay Shetty, Brain Genetic TestingGenetic EpidemiologyEpidemiologic ResearchPediatric EpidemiologyClinical Epidemiology	2021	214
Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients Katrin Tefs, Marieta Gueorguieva, Jürgen Klammt, Blood	2006	161
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription Cristina Dias, Sara B. Estruch, Sarah A. Graham, The American Journal of Human Genetics	2016	155
Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks, American Journal of Medical Genetics Part A	2013	145
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis Carol-Anne Martin, Jennie Murray, Paula Carroll, Genes & Development MitophagyBrain DevelopmentGeneticsMolecular GeneticsEpigenetics	2016	143
Clinical and genetic aspects of KBG syndrome Karen Low, Tazeen Ashraf, Natalie Canham, American Journal of Medical Genetics Part A	2016	136
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants Joanna Kennedy, David Goudie, Edward Blair, Genetics in Medicine Pathogenic Kat6a VariantsKat6a SyndromeGeneticsPathogenesisGenetic Epidemiology	2018	105
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Circulation Cardiovascular Genetics	2015	101

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