Amanda Collins - Concepedia

Author

Amanda Collins

Also Known As

A L Collins, A. L. COLLINS, A. L. Collins, A.L. Collins, Alison Male, Amanda Collins, Amanda L Collins, Amanda L. Collins, Amanda Rose Collins, Gareth Cross

Publications

4.5K

Citations

H-Index

Concepts

All Affiliations

Princess Anne Hospital Wessex Regional Genetics Laboratory University of Southampton Salisbury District Hospital University of Manchester

About

Amanda Collins is an author at Princess Anne Hospital specializing in genetics, medicine, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	15	1.6K
2	Public Health	5	5	487
3	Engineering	1	1	18
4	Health Sciences	1	1	116
5	Social Sciences	1	1	97

Amanda Collins

Publications

3.6K

Citations

H-Index

Page 1

	Year	Citations
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Heather C. Mefford, Andrew J. Sharp, Carl Baker, New England Journal of Medicine	2008	803
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila Christiane Zweier, Eiko K. de Jong, Markus Zweier, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics	2009	343
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services D. Gareth Evans, Julian Barwell, Diana Eccles, Breast Cancer Research	2014	309
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Lionel Willatt, James J. Cox, John Barber, The American Journal of Human Genetics Molecular CharacterizationGene Deletion DataGenetic DisorderGeneticsPathogenesis	2005	295
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease Rong Li, Gajja S. Salomons, James E. Goldman, Annals of Neurology	2005	268
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Human Mutation GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationGenomics	2013	214
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum Siddharth Banka, Ratna Veeramachaneni, William Reardon, European Journal of Human Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics	2011	180
Comparative <i>PRKAR1A</i> genotype–phenotype analyses in humans with Carney complex and <i>prkar1a</i> haploinsufficient mice Mark Veugelers, David Wilkes, Kimberly A. Burton, Proceedings of the National Academy of Sciences	2004	158
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Maximilian Muenke, Fiorella Gurrieri, Christiane Bay, Proceedings of the National Academy of Sciences Brain DevelopmentGeneticsMolecular GeneticsDisease Gene IdentificationMendelian Disorder	1994	116
A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly Frances R. Goodman, Frank Majewski, Amanda Collins, The American Journal of Human Genetics PathogenesisEvx2 Causes SynpolydactylyMolecular BiologyDegenerative Disease	2002	104

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