Janet E. Sowden - Concepedia

Author

Janet E. Sowden

Also Known As

J E Sowden, J Sowden, J. E. Sowden, Janet E Sowden, Janet E. Sowden, Janet Sowden, Janet E. Sowden, Kate J. Eichinger, Sowden, J

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

University of Rochester University of Rochester Medical Center Children's Hospital at Westmead The University of Sydney National Hospital for Neurology and Neurosurgery

About

Janet E. Sowden is an author at University of Rochester specializing in medicine, genetics, and molecular biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	787
2	Health Sciences	2	2	110
3	Natural Sciences	2	2	78
4	Engineering	1	1	14
5	Biomedical Engineering	1	1	14

Janet E. Sowden

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia Emily C. Oates, Alexander M. Rossor, Majid Hafezparast, The American Journal of Human Genetics Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics	2013	188
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Andrea Cortese, Yi Zhu, Adriana Rebelo, Nature Genetics Biallelic MutationsSomatic VariantGenetic DisorderGeneticsDiabetes	2020	170
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy D. Herrmann, Rita Horváth, Janet E. Sowden, The American Journal of Human Genetics Synaptotagmin 2Mutations CauseMedicineNeurological DisorderDegenerative Disease	2014	119
Gene expression during normal and FSHD myogenesis Koji Tsumagari, Shao-Chi Chang, Michelle Lacey, BMC Medical Genomics	2011	108
Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective Nicholas E. Johnson, Chad Heatwole, Nuran Dilek, Neuromuscular Disorders MedicineQuality Of LifeDental DiseaseCharcot–marie–tooth Disease	2014	108
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 Alexander M. Rossor, Emily C. Oates, Hannah K. Salter, Brain GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationKinesiology	2014	97
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease Kayla Cornett, Manoj P. Menezes, Paula Bray, JAMA Neurology	2016	95
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study Menelaos Pipis, Shawna Feely, James M. Polke, Brain	2020	87
Is skin biopsy a predictor of transition to symptomatic HIV neuropathy? David N. Herrmann, M. P. McDermott, Janet E. Sowden, Neurology	2006	67
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level Rinse Klooster, Kirsten R. Straasheijm, Bharati Shah, European Journal of Human Genetics BioinformaticsFshd Candidate GenesProtein ExpressionMedicineGenetics	2009	58

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