Lea Papić - Concepedia

Author

Lea Papić

Medical University of Graz

Also Known As

L. Papić, Lea Papić

Publications

570

Citations

H-Index

Concepts

All Affiliations

Medical University of Graz Innsbruck Medical University Medical University of Vienna RWTH Aachen University ETH Zurich

About

Lea Papić is an author at Medical University of Graz specializing in medicine, pathology, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	311
2	Engineering	1	1	13
3	Cell Biology	1	1	267
4	Genetic Medicine	1	1	13
5	Molecular Biology	1	1	267

Lea Papić

Publications

561

Citations

H-Index

Page 1

	Year	Citations
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić, Nature Genetics Ankyrin DomainScapuloperoneal SmaMolecular BiologyPathologyMedicine	2009	267
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I Christian Guelly, Peng-Peng Zhu, Lea Leonardis, The American Journal of Human Genetics	2010	140
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin Michaela Auer‐Grumbach, Martin Weger, Regina Fink‐Puches, Brain	2011	71
Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome Michaela Auer‐Grumbach, Carina Fischer, Lea Papić, Neuropediatrics Developmental AnomalyPeripheral NervesMendelian DisorderGenetic DisorderPrx Genes	2008	31
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease Carina Fischer, Slave Trajanoski, Lea Papić, Journal of Neurology	2011	22
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features Lea Leonardis, Michaela Auer‐Grumbach, Lea Papić, European Journal of Neurology	2012	17
SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients Lea Papić, Dirk Fischer, Slave Trajanoski, European Journal of Medical Genetics EngineeringGeneticsPathologyMolecular GeneticsDisease Gene Identification	2010	13

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