Mitali Patel - Concepedia

Author

Mitali Patel

Also Known As

M Patel, M. P. Patel, M. Patel, M.P. Patel, Mitali P Patel, Mitali P. Patel, Mitali Patel, Mitali P. Patel, Patel, Mitali

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

University College London Royal Brompton & Harefield NHS Foundation Trust Alexandria University Great Ormond Street Hospital University of Dundee

About

Mitali Patel is an author at University College London specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	554
2	Natural Sciences	2	2	164
3	Cell Biology	2	2	108
4	Engineering	1	1	85
5	Cellular Physiology	1	1	33

Mitali Patel

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Dimerization of complement factor H-related proteins modulates complement activation in vivo Elena Goicoechea de Jorge, Joseph J. E. Caesar, Talat H. Malik, Proceedings of the National Academy of Sciences	2013	284
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 Chiara Olcese, Mitali Patel, Amelia Shoemark, Nature Communications	2017	150
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus Mahmoud R. Fassad, Amelia Shoemark, Marie Legendre, The American Journal of Human Genetics ChromatinGenome InstabilityChromosome DynamicsDevelopmental BiologyCytogenetics	2018	131
A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy Talat H. Malik, Peter Lavin, Elena Goicoechea de Jorge, Journal of the American Society of Nephrology GeneticsRenal PathologyImmunologyInnate Immune SystemPathology	2012	129
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia Amelia Shoemark, Emily Frost, Mellisa Dixon, American Journal of Respiratory and Critical Care Medicine	2017	128
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia Amelia Shoemark, Bruna Rubbo, Marie Legendre, European Respiratory Journal	2021	104
Combined exome and whole-genome sequencing identifies mutations in <i>ARMC4</i> as a cause of primary ciliary dyskinesia with defects in the outer dynein arm Alexandros Onoufriadis, Amelia Shoemark, Mustafa M. Munye, Journal of Medical Genetics	2013	91
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort Mahmoud R. Fassad, Mitali Patel, Amelia Shoemark, Journal of Medical Genetics	2019	91
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations Amelia Shoemark, Eduardo Moya, Robert A. Hirst, Thorax	2017	88
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Human Molecular Genetics EngineeringCommon MechanismGeneticsPathologyDisease Gene Identification	2014	85

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