Below are the most recent publications written about "Phenotype" by people in Profiles.
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Williams ZJ, Schaaf R, Ausderau KK, Baranek GT, Barrett DJ, Cascio CJ, Dumont RL, Eyoh EE, Failla MD, Feldman JI, Foss-Feig JH, Green HL, Green SA, He JL, Kaplan-Kahn EA, Ke?eli-Kaysili B, MacLennan K, Mailloux Z, Marco EJ, Mash LE, McKernan EP, Molholm S, Mostofsky SH, Puts NAJ, Robertson CE, Russo N, Shea N, Sideris J, Sutcliffe JS, Tavassoli T, Wallace MT, Wodka EL, Woynaroski TG. Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium. Mol Autism. 2023 Aug 28; 14(1):31.
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Ohnishi T, Tran V, Sao K, Ramteke P, Querido W, Barve RA, van de Wetering K, Risbud MV. Loss of function mutation in Ank causes aberrant mineralization and acquisition of osteoblast-like-phenotype by the cells of the intervertebral disc. Cell Death Dis. 2023 07 19; 14(7):447.
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Novak T, Crawford JC, Hahn G, Hall MW, Thair SA, Newhams MM, Chou J, Mourani PM, Tarquinio KM, Markovitz B, Loftis LL, Weiss SL, Higgerson R, Schwarz AJ, Pinto NP, Thomas NJ, Gedeit RG, Sanders RC, Mahapatra S, Coates BM, Cvijanovich NZ, Ackerman KG, Tellez DW, McQuillen P, Kurachek SC, Shein SL, Lange C, Thomas PG, Randolph AG. Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza. Front Immunol. 2023; 14:1220028.
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Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet J Rare Dis. 2023 07 05; 18(1):177.
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Kumar N, Nomakuchi T, Vossough A, Leonard JMM, Dubbs H, Agarwal S. A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype. Pediatr Neurol. 2023 Aug; 145:112-114.
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Wang Q, Olshin J, Vijay-Shanker K, Wu CH. Text mining of CHO bioprocess bibliome: Topic modeling and document classification. PLoS One. 2023; 18(4):e0274042.
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Zhang W, Xiao D, Li X, Zhang Y, Rasouli J, Casella G, Boehm A, Hwang D, Ishikawa LL, Thome R, Ciric B, Curtis MT, Rostami A, Zhang GX. SIRT1 inactivation switches reactive astrocytes to an antiinflammatory phenotype in CNS autoimmunity. J Clin Invest. 2022 11 15; 132(22).
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Alcamo AM, Barren GJ, Becker AE, Hayes K, Fitzgerald JC, Balamuth F, Pennington JW, Curley MAQ, Tasker RC, Topjian AA, Weiss SL. Validation of a Computational Phenotype to Identify Acute Brain Dysfunction in Pediatric Sepsis. Pediatr Crit Care Med. 2022 12 01; 23(12):1027-1036.
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Kayumi S, P?rez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, Garc?a-Mi?a?r S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-M?guez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fern?ndez-Cuesta M?, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-Fran?ois L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.