Katherine A. Fawcett

Author

Also Known As

Fawcett, Katherine A, Fawcett, Katherine A., Godwin M. Grech, Hayes, Ian, K Fawcett, K. A. Fawcett, K. Fawcett, KA Fawcett, Katherine A Fawcett, Katherine A. Fawcett

Publications

4.1K

Citations

H-Index

Concepts

All Affiliations

University College London University of Oxford Medical Research Council University of Cambridge Wellcome Sanger Institute

About

Katherine A. Fawcett is an author at University College London specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	1.3K
2	Public Health	4	4	516
3	Social Sciences	1	1	99
4	Biostatistics	1	1	115
5	Cell Biology	1	1	47

Katherine A. Fawcett

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Common variants in WFS1 confer risk of type 2 diabetes Manjinder S. Sandhu, Michael N. Weedon, Katherine A. Fawcett, Nature Genetics Metabolic SyndromeGenetic DeterminantDiabetes EpidemiologyGeneticsDiabetes	2007	376
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett, Journal of Neurology Neurosurgery & Psychiatry	2012	368
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes Amélie Bonnefond, Nathalie Clément, Katherine A. Fawcett, Nature Genetics Metabolic SyndromeSleepRare Mtnr1b VariantsMedicineDiabetes	2012	361
Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, Annals of Neurology GeneticsCytoskeletonMolecular GeneticsDisease Gene IdentificationSynaptic Signaling	2012	178
<i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller, Brain	2015	149
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations Paul W. Franks, Olov Rolandsson, S. L. Debenham, Diabetologia Genome-wide Association StudyMetabolic SyndromeGenetic DeterminantDiabetes EpidemiologyDiabetes	2007	115
<i>SPG7</i> mutations are a common cause of undiagnosed ataxia Gerald Pfeffer, Angela Pyle, Helen Griffin, Neurology Mendelian DisorderGenetic DisorderMedicineGeneticsLate-onset Ataxias	2015	108
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Brain NeurogenomicsBrain DevelopmentGeneticsPathologyMolecular Genetics	2017	99
A truncation mutation in <i>TBC1D4</i> in a family with acanthosis nigricans and postprandial hyperinsulinemia Satya Dash, Hiroyuki Sano, Justin J. Rochford, Proceedings of the National Academy of Sciences	2009	98
<scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Annals of Neurology	2020	93

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