Abhijit Dixit - Concepedia

Author

Abhijit Dixit

Nottingham University Hospitals NHS Trust ORCID

Also Known As

A Dixit, A. Dixit, Abhijit Dixit, Angela Douglas, Angus Dobbie, DDD Study, Deirdre Cilliers, Gemma Devlin, Kirsty Bradshaw, Lynn Diskin

Publications

Citations

H-Index

Concepts

All Affiliations

Nottingham University Hospitals NHS Trust Nottingham City Hospital University Hospital Southampton NHS Foundation Trust University of Manchester University of Oxford

About

Abhijit Dixit is an author at Nottingham University Hospitals NHS Trust specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	11	386
2	Public Health	3	3	81
3	Education	1	1	66
4	Social Sciences	1	1	97
5	Biology	1	1	66

Abhijit Dixit

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala, Human Mutation	2012	190
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder Sara Cuvertino, Helen M. Stuart, Kate Chandler, The American Journal of Human Genetics	2017	135
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, The American Journal of Human Genetics	2016	101
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
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals Claire Forde, Derek Lim, Yousef Alwan, European Urology Oncology	2019	90
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Orphanet Journal of Rare Diseases	2014	88
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing Karen Stals, Matthew N. Wakeling, Júlia Baptista, Prenatal Diagnosis	2017	76
7q11.23 Microduplication: a recognizable phenotype Abhijit Dixit, Shane McKee, Sahar Mansour, Clinical Genetics Recognizable PhenotypeGeneticsReciprocal MicroduplicationWilliams-beuren SyndromeEducation	2012	66
17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum Abhijit Dixit, Chirag Patel, Rachel Harrison, American Journal of Medical Genetics Part A	2012	63
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha, Neurology Genetics	2019	50

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