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Austin Larson
Austin Larson
Children's Hospital Colorado, University of Colorado
Verified email at ucdenver.edu
Title
Cited by
Cited by
Year
Patient-customized oligonucleotide therapy for a rare genetic disease
J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ...
New England Journal of Medicine 381 (17), 1644-1652, 2019
4992019
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
MF Wangler, C Gonzaga-Jauregui, T Gambin, S Penney, T Moss, ...
PLoS genetics 10 (3), e1004258, 2014
1292014
Mutations in PMPCB encoding the catalytic subunit of the mitochondrial presequence protease cause neurodegeneration in early childhood
FN Vögtle, B Brändl, A Larson, M Pendziwiat, MW Friederich, SM White, ...
The American Journal of Human Genetics 102 (4), 557-573, 2018
852018
Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging
E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ...
The American Journal of Human Genetics 105 (3), 493-508, 2019
672019
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification
ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ...
The American Journal of Human Genetics 104 (6), 1127-1138, 2019
602019
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
AA Larson, PR Baker, MP Milev, CA Press, RJ Sokol, MO Cox, ...
Skeletal muscle 8, 1-10, 2018
542018
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children
MC Starr, IJ Chang, LS Finn, A Sun, AA Larson, J Goebel, C Hanevold, ...
Pediatric Nephrology 33, 1257-1261, 2018
452018
Mitochondrial diseases in North America: An analysis of the NAMDC Registry
E Barca, Y Long, V Cooley, R Schoenaker, V Emmanuele, S DiMauro, ...
Neurology: Genetics 6 (2), e402, 2020
432020
Seizures and methemoglobinemia in an infant after excessive EMLA application
A Larson, T Stidham, S Banerji, J Kaufman
Pediatric Emergency Care 29 (3), 377-379, 2013
432013
New insights into the phenotype of FARS2 deficiency
E Vantroys, A Larson, M Friederich, K Knight, MA Swanson, CA Powell, ...
Molecular Genetics and Metabolism 122 (4), 172-181, 2017
422017
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
MW Friederich, AF Elias, A Kuster, L Laugwitz, AA Larson, AP Landry, ...
Journal of inherited metabolic disease 43 (5), 1024-1036, 2020
412020
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ...
The American Journal of Human Genetics 107 (1), 164-172, 2020
392020
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome
T Van Damme, X Pang, B Guillemyn, S Gulberti, D Syx, R De Rycke, ...
Human molecular genetics 27 (20), 3475-3487, 2018
392018
Glutaric acidemia type 1
A Larson, S Goodman
322019
Genetic causes of pituitary hormone deficiencies
A Larson, NJ Nokoff, NJL Meeks
Discovery Medicine 19 (104), 175-183, 2015
322015
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
KA Kripps, W Nakayuenyongsuk, BJ Shayota, W Berquist, ...
Molecular genetics and metabolism 130 (1), 58-64, 2020
312020
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
N Assia Batzir, P Kishor Bhagwat, A Larson, Z Coban Akdemir, M Bagłaj, ...
Human mutation 41 (3), 641-654, 2020
312020
Disorders of sex development: clinically relevant genes involved in gonadal differentiation
A Larson, NJ Nokoff, S Travers
Discovery medicine 14 (78), 301-309, 2012
312012
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ...
Genetics in Medicine 22 (3), 538-546, 2020
302020
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr, H Sticht, ...
Genetics in Medicine 23 (8), 1474-1483, 2021
292021
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