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 | 499 | 2019 |
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 | 129 | 2014 |
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 | 85 | 2018 |
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 | 67 | 2019 |
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 | 60 | 2019 |
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 | 54 | 2018 |
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 | 45 | 2018 |
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 | 43 | 2020 |
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 | 43 | 2013 |
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 | 42 | 2017 |
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 | 41 | 2020 |
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 | 39 | 2020 |
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 | 39 | 2018 |
Glutaric acidemia type 1 A Larson, S Goodman | 32 | 2019 |
Genetic causes of pituitary hormone deficiencies A Larson, NJ Nokoff, NJL Meeks Discovery Medicine 19 (104), 175-183, 2015 | 32 | 2015 |
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 | 31 | 2020 |
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 | 31 | 2020 |
Disorders of sex development: clinically relevant genes involved in gonadal differentiation A Larson, NJ Nokoff, S Travers Discovery medicine 14 (78), 301-309, 2012 | 31 | 2012 |
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 | 30 | 2020 |
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 | 29 | 2021 |