Concepedia

Luis A. Umaña

LA

Statistics

Publications

9

Citations

378

H-Index

9

Active since

2008

Affiliations

The University of Texas Southwestern Medical Center(Current)

Boston Children's Hospital

Baylor College of Medicine

Harvard University

University of Utah

Luis A. Umaña is an author at The University of Texas Southwestern Medical Center specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

2008–2022

9

Publications

9

Mediated learning experience and concept maps: a pedagogical tool for achieving meaningful learning in medical physiology students

H. L. Gonzalez, Alberto Pardo Palencia, Luis A. Umaña et al. · AJP Advances in Physiology Education · 2008 · 130 citations

, , +15

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

, , +17

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Seema R. Lalani, Stephanie M. Ware, Xueqing Wang et al. · Human Molecular Genetics · 2013 · 50 citations · Full text

, , +17

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Shino Shimada, Bobby G. Ng, Amy White et al. · Journal of Medical Genetics · 2022 · 21 citations · Full text

, , +17

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano et al. · The American Journal of Human Genetics · 2022 · 19 citations · Full text

, , +16

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