 Connection
Austin Larson to Adult
This is a "connection" page, showing publications Austin Larson has written about Adult.
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0.186 |
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Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64.
Score: 0.035
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Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E. Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. Mol Genet Metab. 2025 May; 145(1):109087.
Score: 0.012
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Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL. Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025 Feb 25; 104(4):e209779.
Score: 0.012
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Fern?ndez AC, Estrella J, Oglesbee D, Larson AA, Van Hove JLK. The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders. J Inherit Metab Dis. 2025 01; 48(1):e12821.
Score: 0.012
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Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F. Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Mol Genet Metab. 2024 Aug; 142(4):108513.
Score: 0.012
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Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509.
Score: 0.012
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Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, B?zieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferr?o AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nat Genet. 2022 08; 54(8):1214-1226.
Score: 0.010
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Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kib?k M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes (Basel). 2022 01 15; 13(1).
Score: 0.010
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Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denomm?-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, G?rard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, H?ron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan; 141(1):65-80.
Score: 0.010
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Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesqui?re B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 12; 90(6):887-900.
Score: 0.010
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Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 03; 45(2):157-168.
Score: 0.010
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Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. Cold Spring Harb Mol Case Stud. 2021 08; 7(4).
Score: 0.010
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Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, H?ron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020 05; 182(5):962-973.
Score: 0.009
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Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.009
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Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Hum Mol Genet. 2018 10 15; 27(20):3475-3487.
Score: 0.008
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Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258.
Score: 0.006
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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