Mary Ellen Ahearn - Concepedia

Author

Mary Ellen Ahearn

University of Miami

Also Known As

Ahearn, M., Ahearn, Mary E., M Ahearn, M E Ahearn, M. Ahearn, M. E. Ahearn, Mary E. Ahearn, Mary Ellen Ahearn

Publications

554

Citations

H-Index

Concepts

All Affiliations

University of Miami Children's National Translational Genomics Research Institute Loma Linda University Dr. John T. Macdonald Foundation

About

Mary Ellen Ahearn is an author at University of Miami specializing in medicine, genetics, and natural sciences.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	295
2	Natural Sciences	2	2	99
3	Biology	2	2	99
4	Molecular Biology	2	2	48
5	Molecular Genetics	2	2	218

Mary Ellen Ahearn

Publications

417

Citations

H-Index

Page 1

	Year	Citations
Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy Juliane Ramser, Mary Ellen Ahearn, C Lenski, The American Journal of Human Genetics Ube1 Are AssociatedRare DiseasesRare MissenseDevelopmental BiologyMendelian Disorder	2008	183
Structural rearrangements of the chloroplast genome provide an important phylogenetic link in ferns. Diana B. Stein, David S. Conant, Mary Ellen Ahearn, Proceedings of the National Academy of Sciences BotanyComparative GenomicsGeneticsPsba GeneStructural Rearrangements	1992	64
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing Jesse M. Hunter, Mary Ellen Ahearn, Christopher Balak, Molecular Genetics & Genomic Medicine	2015	46
Interchromosomal Segmental Duplications Explain the Unusual Structure of PRSS3, the Gene for an Inhibitor-Resistant Trypsinogen Lee Rowen, Eleanor Williams, Gustavo Glusman, Molecular Biology and Evolution CytogeneticsGeneticsGenomic MechanismMolecular BiologyMolecular Genetics	2005	35
X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping Devin Dressman, Mary Ellen Ahearn, Kemal O. Yariz, Genetics in Medicine	2007	32
Phylogenetic Implications of Chloroplast DNA Variation in the Cyatheaceae. I. David S. Conant, Diana B. Stein, Angela E. C. Valinski, Systematic Botany	1994	24
Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy Chris Balak, Jesse M. Hunter, Mary Ellen Ahearn, F1000Research	2017	20
Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome Michael Hoosien, Mary Ellen Ahearn, Robert J. Myerburg, Heart Rhythm Long Qt SyndromeChannelopathiesNovel MechanismMolecular PhysiologySignal Transduction	2013	13

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