Imperial College London

ProfessorPhilippeFroguel

Faculty of MedicineDepartment of Metabolism, Digestion and Reproduction

Chair in Genomic Medicine
 
 
 
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Contact

 

+44 (0)20 7594 6520p.froguel

 
 
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Assistant

 

Mrs Patricia Murphy +44 (0)20 7594 1603

 
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Location

 

E306Burlington DanesHammersmith Campus

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Summary

 

Publications

Journals

Jacob A, Pasquier J, Carapito R, et al., 2020, A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report., Bmc Med Genet, Vol:21

Saeed S, Arslan M, Manzoor J, et al., 2020, Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan, Diabetes, Vol:69, ISSN:0012-1797, Pages:1424-1438

Lemoine S, Eladari D, Juillard L, et al., 2020, The Case vertical bar Hypokalemia and severe renal loss of sodium, Kidney International, Vol:97, ISSN:0085-2538, Pages:1305-1306

Khamis A, Boutry R, Canouil M, et al., 2020, Histone deacetylase 9 promoter hypomethylation associated with adipocyte dysfunction is a statin-related metabolic effect, Clinical Epigenetics, Vol:12, ISSN:1868-7075

Canouil M, Bouland GA, Bonnefond A, et al., 2020, NACHO: an R package for quality control of NanoString nCounter data, Bioinformatics, Vol:36, ISSN:1367-4803, Pages:970-971

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