Below are the most recent publications written about "Neurodevelopmental Disorders" by people in Profiles.
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Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Shen Y, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Abou Jamra R, Gabriel H, Rentas S, Rippert AL, Gray C, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Eker HK, Pehlivan D, Posey JE, Lippa NC, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid MS, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Perez-Duenas B, Cazurro-Gutierrez A, Verdura E, Cantarin-Extremera V, Marques ADV, Helwak A, Tollervey D, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.
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M?ller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedl?ckov? L, La??uthov? P, Lib? Z, Vlckov? M, William N, Klee EW, Gavrilova RH, L?vy J, Capri Y, Scavina M, K?rner RW, Valivullah Z, Wei? C, M?ller GM, Frazier Z, Roberts A, Gener B, Scala M, Striano P, Zara F, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, K?sters B, Beggs AH, Sveden A, Chopra M, Genetti CA, Nicolai J, D?tsch J, Koy A, B?nnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans NC, Jungbluth H, Dafsari HS. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2025 Feb 03; 148(2):597-612.
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O'Hara PT, Talero Cabrejo P, Earland TV. Early detection of neurodevelopmental disorders in paediatric primary care: A scoping review. Fam Pract. 2024 12 02; 41(6):883-891.
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Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ?L, Busk ?L, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 11 07; 111(11):2566-2581.
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Pastuszko P, Katz MG, Ravvin S, Hsia TY, Raju GP, Nigam V, Mainwaring RD. Predictors of Neurologic Complications and Neurodevelopmental Outcome in Pediatric Cardiac Surgery With Extracorporeal Membrane Oxygenation. World J Pediatr Congenit Heart Surg. 2024 11; 15(6):833-843.
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Nomakuchi TT, Teferedegn EY, Li D, Muirhead KJ, Dubbs H, Leonard J, Muraresku C, Sergio E, Arnold K, Pizzino A, Skraban CM, Zackai EH, Wang K, Ganetzky RD, Vanderver AL, Ahrens-Nicklas RC, Bhoj EJK. Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am J Med Genet A. 2024 12; 194(12):e63817.
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Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-W?dl S, Osmanovic D, Bj?rgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, H?bner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain. 2024 04 04; 147(4):1197-1205.
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Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dun? M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, K?ry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, N?meth AH, ?stergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508.
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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.