Miriam S. Reuter - Concepedia

Author

Miriam S. Reuter

Also Known As

M Reuter, M. Reuter, Miriam Reuter, Miriam S Reuter, Miriam S. Reuter, Miriam S. Reuter, Prab Prabhakar, Reuter, Miriam, Reuter, Miriam S.

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

University of Toronto Hospital for Sick Children SickKids Foundation Friedrich-Alexander-Universität Erlangen-Nürnberg Ted Rogers Centre for Heart Research

About

Miriam S. Reuter is an author at University of Toronto specializing in medicine, genetics, and functional genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	893
2	Biostatistics	2	2	173
3	Engineering	1	1	47
4	Health Sciences	1	1	32
5	Public Health	1	1	126

Miriam S. Reuter

Publications

3.1K

Citations

H-Index

Page 1

	Year	Citations
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Anath C. Lionel, Gregory Costain, Nasim Monfared, Genetics in Medicine	2017	551
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Cell	2014	280
Genomic architecture of autism from comprehensive whole-genome sequence annotation Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Cell Functional GenomicsSyndromic AutismGeneticsGenomic ArchitectureAutism	2022	258
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert, JAMA Psychiatry	2017	239
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data Brett Trost, Susan Walker, Zhuozhi Wang, The American Journal of Human Genetics Long-read SequencingFunctional GenomicsMolecular EcologyComprehensive WorkflowGenetics	2018	199
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing Gregory Costain, Rebekah Jobling, Susan Walker, European Journal of Human Genetics Genetic TestingSequencingDiagnostic AdvantageMedicineGenetics	2018	126
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht, Human Genetics Mendelian DisorderGenetic DisorderGeneticsFrequent CauseFragile X Spectrum	2014	124
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 Cornelia Kraus, Juliane Hoyer, Georgia Vasileiou, International Journal of Cancer	2016	115
Axonal transport deficits and degeneration can evolve independently in mouse models of amyotrophic lateral sclerosis Petar Marinković, Miriam S. Reuter, Monika S. Brill, Proceedings of the National Academy of Sciences	2012	105
Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination Monika S. Brill, Tatjana Kleele, Laura Ruschkies, Neuron	2016	105

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