Lorena Santa María - Concepedia

Author

Lorena Santa María

Also Known As

L. Santa María, LORENA SANTA MARÍA, Lara Martínez María, Lavínia De Freitas Maria, Lemos Sônia Maria, Liji C Maria, Lorena Santa Maria, Lorena Santa María, Luján Martínez Delia María, Lupiani Moreno Rafael María

Publications

435

Citations

H-Index

Concepts

All Affiliations

University of Chile Royal Children's Hospital The University of Melbourne Murdoch Children's Research Institute Hunter Genetics

About

Lorena Santa María is an author at University of Chile specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	143
2	Biology	1	1	29
3	Cell Biology	1	1	67
4	Neurology	1	1	47
5	Neuroscience	1	1	47

Lorena Santa María

Publications

327

Citations

H-Index

Page 1

	Year	Citations
Signals from damaged but not undamaged skeletal muscle induce myogenic differentiation of rat bone-marrow-derived mesenchymal stem cells Lorena Santa María, Cecilia Rojas, José J. Minguell Experimental Cell Research Regenerative MedicineMechanobiologyDevelopmental BiologySkeletal MuscleMedicine	2004	67
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Journal of Neurodevelopmental Disorders	2019	52
<scp>FXTAS</scp> in an unmethylated mosaic male with fragile X syndrome from Chile Lorena Santa María, A. Pugin, María Angélica Alliende, Clinical Genetics Fmr1 Premutation AlleleGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	2013	47
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features Emma K. Baker, Marta Arpone, Solange Aliaga, Molecular Autism	2019	33
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow David E. Godler, Ling Ling, Dinusha Gamage, JAMA Network Open	2022	33
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate Cecilia Rojas, Lorena Santa María, José Luis Santos, European Journal of Human Genetics BiologyFrameshift InsertionGeneticsPathologyCation Channel	2002	29
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis Solange Aliaga, Howard R. Slater, David Francis, Clinical Chemistry	2015	29
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome Emma K. Baker, Marta Arpone, Claudine M. Kraan, Scientific Reports	2020	14
Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients Valerie Hamilton, Lorena Santa María, Karen Fuenzalida, JIMD Reports	2017	12
Tissue mosaicism, <scp><i>FMR1</i></scp> expression and intellectual functioning in males with fragile X syndrome Emma K. Baker, Marta Arpone, Minh Bui, American Journal of Medical Genetics Part A	2022	11

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