Susan Tomkins

3.5k citations

15 papers · 1.2k indexed · h-index 14

Co-authors: Jeremy P. Cheadle Julian R. Sampson Shelley Idziaszczyk Nazneen Rahman Helen E. Hughes Alexandra Murray I. Karen Temple Sally Davies
Topics: Genomic variations and chromosomal abnormalities (6 papers)Genomics and Rare Diseases (4 papers)Tuberous Sclerosis Complex Research (2 papers)
Cited by: Genetics Physiology Molecular Biology
Journals: Genome Research The American Journal of Human Genetics British Journal of Cancer
Partner nations: United Kingdom United States Canada

In The Last Decade

Susan Tomkins

15 papers receiving 1.1k citations

Peers

Countries citing papers authored by Susan Tomkins

Since Specialization

Citations

This map shows the geographic impact of Susan Tomkins's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Susan Tomkins with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Susan Tomkins more than expected).

Fields of papers citing papers by Susan Tomkins

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Susan Tomkins. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Susan Tomkins. The network helps show where Susan Tomkins may publish in the future.

Co-authorship network of co-authors of Susan Tomkins

This figure shows the co-authorship network connecting the top 25 collaborators of Susan Tomkins. A scholar is included among the top collaborators of Susan Tomkins based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Susan Tomkins. Susan Tomkins is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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15 of 15 papers shown

#	Work	Indexed citations
1	Detection of structural mosaicism from targeted and whole-genome sequencing data 2017 ·Genome Research ·Daniel A. King,Alejandro Sifrim,Tomas Fitzgerald,Raheleh Rahbari,Emma Hobson,Tessa Homfray,Sahar Mansour,Sarju Mehta,(unknown),Susan Tomkins,Pradeep Vasudevan,Matthew E. Hurles,(unknown)	38
2	Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature 2017 ·Journal of Medical Genetics ·Meena Balasubramanian,Josh Willoughby,Andrew E. Fry,Astrid Weber,Helen V. Firth,Charu Deshpande,Jonathan Berg,Kate Chandler,Kay Metcalfe,Wayne Lam,Daniela T. Pilz,Susan Tomkins	44
3	Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals 2016 ·European Journal of Medical Genetics ·Mira Kharbanda,Daniela T. Pilz,Susan Tomkins,Kate Chandler,(unknown),Alan Fryer,Victoria McKay,Pedro Louro,Jill Smith,John Burn,Usha Kini,Anna de Burca,David Fitzpatrick,Esther Kinning	46
4	COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers 2012 ·Neuropediatrics ·Anna Pichiecchio,Roberta La Piana,(unknown),Daniel Doherty,Anirban Majumdar,Susan Tomkins,Manuèle Miné,Mauro Ceroni,Ivana Ricca,Umberto Balottin,Simona Orcesi,Davide Tonduti	16
5	COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification 2011 ·Neuropediatrics ·John H. Livingston,Dan Doherty,Simona Orcesi,Davide Tonduti,(unknown),Roberta La Piana,Elisabeth Tournier‐Lasserve,(unknown),Susan Tomkins,Gillian Rice,Rachel Kneen,Marjo S. van der Knaap,Yanick J. Crow	29
6	Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions 2010 ·American Journal of Medical Genetics Part A ·Jill A. Rosenfeld,John A. Crolla,Susan Tomkins,Patricia I. Bader,Bernice E. Morrow,Jerome L. Gorski,(unknown),Cynthia Forster‐Gibson,Deirdre Cilliers,Robert Hislop,Allen N. Lamb,Beth S. Torchia,Blake C. Ballif,Lisa G. Shaffer	37
7	Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature 2009 ·American Journal of Medical Genetics Part A ·N. Simon Thomas,John F. Harvey,David J. Bunyan,Julia Rankin,Giedré Grigelioniené,Damien L. Bruno,Tiong Yang Tan,Susan Tomkins,Robert Hastings	43
8	15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q 2009 ·American Journal of Medical Genetics Part A ·Katrina Tatton‐Brown,Daniela T. Pilz,Karen Helene Ørstavik,Michael A. Patton,John Barber,Morag N. Collinson,V.K. Maloney,Shuwen Huang,John A. Crolla,Karen Marks,(unknown),Peter Thompson,Zafar Nawaz,(unknown),Susan Tomkins,(unknown),Nazneen Rahman,Meriel McEntagart	55
9	Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature 2007 ·European Journal of Pediatrics ·Shelagh Joss,(unknown),Susan Tomkins,Mushtaq Ahmed,John Bradbury,Eamonn Sheridan	16
10	NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes 2003 ·The American Journal of Human Genetics ·Jenny Douglas,Sandra Hanks,I. Karen Temple,Sally Davies,Alexandra Murray,Meena Upadhyaya,Susan Tomkins,Helen E. Hughes,(unknown),Nazneen Rahman	210
11	Lymphangioleiomyomatosis and tuberous sclerosis 2002 ·Respiratory Medicine ·Eleanor Hancock,Susan Tomkins,(unknown),John Osborne	51
12	Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis 2002 ·The American Journal of Human Genetics ·Shih‐hsin Kan,Navaratnam Elanko,David Johnson,(unknown),Jackie Cook,Elsa Reich,Susan Tomkins,Alain Verloès,Stephen R.F. Twigg,Sahan V. Rannan‐Eliya,Donna M. McDonald‐McGinn,Elaine H. Zackai,Steven A. Wall,Maximilian Muenke,Andrew O.M. Wilkie	177
13	Antagonists of retinoic acid receptors (RARs) are potent growth inhibitors of prostate carcinoma cells 2001 ·British Journal of Cancer ·(unknown),(unknown),Jennifer N. Durham,Susan Tomkins,(unknown),E. L. Jones,Roshantha A.S. Chandraratna,G. E. Brown	35
14	Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders 2001 ·Journal of Medical Ethics ·(unknown),Susan Tomkins,Julian R. Sampson	11
15	Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis 1999 ·The American Journal of Human Genetics ·(unknown),(unknown),(unknown),(unknown),Shelley Idziaszczyk,Susan Tomkins,Julian R. Sampson,Jeremy P. Cheadle	368

About Susan Tomkins

Susan Tomkins is a scholar working on Genetics, Immunology and Allergy and Genetics, having authored 15 papers that have together received 1.2k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (6 papers), Genomics and Rare Diseases (4 papers) and Tuberous Sclerosis Complex Research (2 papers). The work is most often cited by research in Genetics (633 citations), Physiology (372 citations) and Molecular Biology (598 citations). Susan Tomkins has collaborated with scholars based in United Kingdom, United States and Canada. Frequent co-authors include Jeremy P. Cheadle, Julian R. Sampson, Shelley Idziaszczyk, Nazneen Rahman, Helen E. Hughes, Alexandra Murray, I. Karen Temple, Sally Davies, Jenny Douglas and Sandra Hanks. Their work appears in journals such as Genome Research, The American Journal of Human Genetics and British Journal of Cancer.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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