Below are the most recent publications written about "Neurodevelopmental Disorders" by people in Profiles.
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Stein TP, Schluter MD, Steer RA, Ming X. Bisphenol-A and phthalate metabolism in children with neurodevelopmental disorders. PLoS One. 2023; 18(9):e0289841.
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Sengupta A, Gauvreau K, Sadhwani A, Butler SC, Newburger JW, Del Nido PJ, Nathan M. Impact of Residual Lesion Severity on Neurodevelopmental Outcomes Following Congenital Heart Surgery in Infancy and Childhood. Pediatr Cardiol. 2024 Dec; 45(8):1676-1691.
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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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Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL, Baker K. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genet Med. 2022 04; 24(4):880-893.
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Averdunk L, Sticht H, Surowy H, L?decke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med (Berl). 2021 12; 99(12):1755-1768.
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Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739.
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Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 07 01; 108(7):1330-1341.
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Sananes R, Goldberg CS, Newburger JW, Hu C, Trachtenberg F, Gaynor JW, Mahle WT, Miller T, Uzark K, Mussatto KA, Pizarro C, Jacobs JP, Cnota J, Atz AM, Lai WW, Burns KM, Milazzo A, Votava-Smith J, Brosig CL. Six-Year Neurodevelopmental Outcomes for Children With Single-Ventricle Physiology. Pediatrics. 2021 02; 147(2).
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Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Clin Genet. 2021 02; 99(2):303-308.
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Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA. Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia. Mol Genet Metab. 2020 11; 131(3):316-324.