Susan Tomkins - Concepedia

Author

Susan Tomkins

Also Known As

Anthony Vandersteen, Audrey Torokwa, Marc Tischkowitz, S E Tomkins, S Tomkins, S. TOMKINS, S. Tomkins, Susan E Tomkins, Susan E. Tomkins, Susan Holder

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

St Michael's Hospital Manchester Academic Health Science Centre University of Liverpool Liverpool Womens NHS Foundation Trust University of Oxford

About

Susan Tomkins is an author at St Michael's Hospital specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	17	1.6K
2	Engineering	2	2	120
3	Education	1	1	128
4	Health Sciences	1	1	47
5	Natural Sciences	1	1	53

Susan Tomkins

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes Jenny Douglas, Sandra Hanks, I. Karen Temple, The American Journal of Human Genetics Sotos SyndromeDevelopmental BiologyMendelian DisorderGenetic DisorderWeaver Syndrome	2003	300
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis Shih‐hsin Kan, Navaratnam Elanko, David Johnson, The American Journal of Human Genetics SclerostinDevelopmental BiologyMendelian DisorderSyndromic CraniosynostosisWide Spectrum	2002	264
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i> Katrina Andrews, David B. Ascher, Douglas E. V. Pires, Journal of Medical Genetics	2018	243
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Vikram Sharma, Aimée L Fenwick, Mia Brockop, Nature Genetics Frequent CauseMolecular BiologyCraniofacial DevelopmentMolecular GeneticsMedicine	2013	218
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Ørstavik, American Journal of Medical Genetics Part A Human GrowthCytogeneticsGeneticsOvergrowth SyndromeEducation	2009	128
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, Human Mutation	2010	127
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, The American Journal of Human Genetics Disease MechanismGenetic DisorderGeneticsMolecular GeneticsCoffin-siris Syndrome	2018	79
Lymphangioleiomyomatosis and tuberous sclerosis Eleanor Hancock, Susan Tomkins, J Sampson, Respiratory Medicine HistopathologyLymphatic SystemPathologyLymphatic DiseaseMedicine	2002	75
Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Clinical Endocrinology	2012	73

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