Below are the most recent publications written about "Neurodevelopmental Disorders" by people in Profiles.
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Fluri R, Coll-Tan? M, Brunet T, Cogne B, Conrad S, Nizon M, Nicita F, Travaglini L, Novelli A, Glissmeyer M, Peterson A, Buchan JG, Serber D, Meier K, G?rtner J, Diegmann S, Pingault V, Attie-Bitach T, Courtin T, Schneider MC, Hung W, Sahai I, O'Grady L, Steindl K, Mehta SG, Depienne C, Heron D, Keren B, Heide S, McKee S, Laccone F, Dyer LM, Melver C, Motter C, Jones WD, Wilson ZT, Vats D, Hu? K, Zweier C, Sticht H, Gregor A. De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms. Am J Hum Genet. 2026 Jul 02; 113(7):1543-1557.
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Rosenberg M, Furrukh AJ, Chen SJ, Perez Coulter A, Pepper V, Banever G, Tashjian D, Moriarty K, Tirabassi MV. Neurodevelopmental Delay Associated With Delayed Orchiopexy for Children With Cryptorchidism. J Surg Res. 2026 May; 321:409-414.
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Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G, Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D'Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. Am J Hum Genet. 2026 Mar 05; 113(3):562-581.
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Sriram S, Jensen ET, Msall ME, Yi JX, Zhabotynski V, Joseph RM, Kuban KCK, Frazier JA, Hooper SR, Santos HP, Gogcu S, Dammann C, Dammann O, Shenberger J, Fry RC, O'Shea TM. Retinopathy of Prematurity and Neurodevelopmental and Quality-of-Life Outcomes at 10 Years of Age. Am J Perinatol. 2026 04; 43(5):691-706.
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Duncan ME, Davey B, Flyer J, Saleeb S, Karnik R, Epstein MR, Laraja K, Glatz JA, Miller TA. Regional paediatric cardiac neurodevelopmental care: a survey of New England referral practices and institutional resources. Cardiol Young. 2025 Jul; 35(7):1350-1356.
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Duan Y, Li L, Panzade GP, Piton A, Zinovyeva A, Ambros V. Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1. Proc Natl Acad Sci U S A. 2024 Mar 05; 121(10):e2308255121.
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Torene RI, Guillen Sacoto MJ, Millan F, Zhang Z, McGee S, Oetjens M, Heise E, Chong K, Sidlow R, O'Grady L, Sahai I, Martin CL, Ledbetter DH, Myers SM, Mitchell KJ, Retterer K. Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases. Am J Hum Genet. 2024 01 04; 111(1):70-81.
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Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, K?ry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910.
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Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevi?ve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
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Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Qu?lin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Uma?a LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227.