Susan Huson - Concepedia

Author

Susan Huson

Also Known As

Helen Murphy, Liz Howard, Monique Anten, S Huson, S M Huson, S. Huson, S. M. HUSON, S. M. Huson, S.M. Huson, SUSAN HUSON

177

Publications

14.4K

Citations

H-Index

140

Concepts

All Affiliations

University of Manchester Manchester Academic Health Science Centre Churchill Hospital St Mary's Hospital Massachusetts General Hospital

About

Susan Huson is an author at University of Manchester specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	29	49	5K
2	Public Health	6	6	1.4K
3	Education	4	4	142
4	Health Sciences	1	1	50
5	Natural Sciences	1	1	27

Susan Huson

Publications

9.8K

Citations

H-Index

Page 1

	Year	Citations
Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service D. Gareth Evans, Elizabeth Howard, Clare Giblin, American Journal of Medical Genetics Part A	2010	971
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Eric Legius, Ludwine Messiaen, P. Wolkenstein, Genetics in Medicine	2021	687
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. Susan Huson, D. A. S. Compston, Peggy Clark, Journal of Medical Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsParental Transmission	1989	542
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. D. Gareth Evans, Susan Huson, Dian Donnai, Journal of Medical Genetics Neuro-oncologyMendelian DisorderGenetic DisorderVestibular SchwannomaClinical Genetics	1992	466
Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation Helen V. Firth, Patricia A. Boyd, R H Lindenbaum, The Lancet 56-66 DaysPediatricsPathologySevere Limb AbnormalitiesPrenatal Diagnosis	1991	381
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius, Cell NeuroregenerationDevelopmental BiologyPeripheral NervesGeneticsGenetic Linkage	1987	370
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation Meena Upadhyaya, Susan Huson, D. M. Davies, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGenetic EpidemiologyNf1 GenePathology	2006	360
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA Marjorie J. Lindhurst, Victoria E R Parker, Felicity Payne, Nature Genetics Genome InstabilitySomatic VariantCell DivisionGenetic DisorderGenetics	2012	313
Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, American Journal of Medical Genetics Part A	2014	301
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Journal of Clinical Investigation	2018	276

Page 1