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1991 1
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Page 1
Brain charts for the human lifespan.
Bethlehem RAI, Seidlitz J, White SR, Vogel JW, Anderson KM, Adamson C, Adler S, Alexopoulos GS, Anagnostou E, Areces-Gonzalez A, Astle DE, Auyeung B, Ayub M, Bae J, Ball G, Baron-Cohen S, Beare R, Bedford SA, Benegal V, Beyer F, Blangero J, Blesa Cábez M, Boardman JP, Borzage M, Bosch-Bayard JF, Bourke N, Calhoun VD, Chakravarty MM, Chen C, Chertavian C, Chetelat G, Chong YS, Cole JH, Corvin A, Costantino M, Courchesne E, Crivello F, Cropley VL, Crosbie J, Crossley N, Delarue M, Delorme R, Desrivieres S, Devenyi GA, Di Biase MA, Dolan R, Donald KA, Donohoe G, Dunlop K, Edwards AD, Elison JT, Ellis CT, Elman JA, Eyler L, Fair DA, Feczko E, Fletcher PC, Fonagy P, Franz CE, Galan-Garcia L, Gholipour A, Giedd J, Gilmore JH, Glahn DC, Goodyer IM, Grant PE, Groenewold NA, Gunning FM, Gur RE, Gur RC, Hammill CF, Hansson O, Hedden T, Heinz A, Henson RN, Heuer K, Hoare J, Holla B, Holmes AJ, Holt R, Huang H, Im K, Ipser J, Jack CR Jr, Jackowski AP, Jia T, Johnson KA, Jones PB, Jones DT, Kahn RS, Karlsson H, Karlsson L, Kawashima R, Kelley EA, Kern S, Kim KW, Kitzbichler MG, Kremen WS, Lalonde F, Landeau B, Lee S, Lerch J, Lewis JD, Li J, Liao W, Liston C, Lombardo MV, Lv J, Lynch C,… See abstract for full author list ➔ Bethlehem RAI, et al. Among authors: donald ka. Nature. 2022 Apr;604(7906):525-533. doi: 10.1038/s41586-022-04554-y. Epub 2022 Apr 6. Nature. 2022. PMID: 35388223 Free PMC article.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: donald ka. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: donald ka. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
Auvin S, Wirrell E, Donald KA, Berl M, Hartmann H, Valente KD, Van Bogaert P, Cross JH, Osawa M, Kanemura H, Aihara M, Guerreiro MM, Samia P, Vinayan KP, Smith ML, Carmant L, Kerr M, Hermann B, Dunn D, Wilmshurst JM. Auvin S, et al. Among authors: donald ka. Epilepsia. 2018 Oct;59(10):1867-1880. doi: 10.1111/epi.14549. Epub 2018 Sep 3. Epilepsia. 2018. PMID: 30178479 Free article.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Among authors: donald ka. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: donald ka. Am J Hum Genet. 2025 Jan 2;112(1):75-86. doi: 10.1016/j.ajhg.2024.11.009. Epub 2024 Dec 24. Am J Hum Genet. 2025. PMID: 39721588 Free PMC article.
Publisher Correction: Brain charts for the human lifespan.
Bethlehem RAI, Seidlitz J, White SR, Vogel JW, Anderson KM, Adamson C, Adler S, Alexopoulos GS, Anagnostou E, Areces-Gonzalez A, Astle DE, Auyeung B, Ayub M, Bae J, Ball G, Baron-Cohen S, Beare R, Bedford SA, Benegal V, Beyer F, Blangero J, Blesa Cábez M, Boardman JP, Borzage M, Bosch-Bayard JF, Bourke N, Calhoun VD, Chakravarty MM, Chen C, Chertavian C, Chetelat G, Chong YS, Cole JH, Corvin A, Costantino M, Courchesne E, Crivello F, Cropley VL, Crosbie J, Crossley N, Delarue M, Delorme R, Desrivieres S, Devenyi GA, Di Biase MA, Dolan R, Donald KA, Donohoe G, Dunlop K, Edwards AD, Elison JT, Ellis CT, Elman JA, Eyler L, Fair DA, Feczko E, Fletcher PC, Fonagy P, Franz CE, Galan-Garcia L, Gholipour A, Giedd J, Gilmore JH, Glahn DC, Goodyer IM, Grant PE, Groenewold NA, Gunning FM, Gur RE, Gur RC, Hammill CF, Hansson O, Hedden T, Heinz A, Henson RN, Heuer K, Hoare J, Holla B, Holmes AJ, Holt R, Huang H, Im K, Ipser J, Jack CR Jr, Jackowski AP, Jia T, Johnson KA, Jones PB, Jones DT, Kahn RS, Karlsson H, Karlsson L, Kawashima R, Kelley EA, Kern S, Kim KW, Kitzbichler MG, Kremen WS, Lalonde F, Landeau B, Lee S, Lerch J, Lewis JD, Li J, Liao W, Liston C, Lombardo MV, Lv J, Lynch C,… See abstract for full author list ➔ Bethlehem RAI, et al. Among authors: donald ka. Nature. 2022 Oct;610(7931):E6. doi: 10.1038/s41586-022-05300-0. Nature. 2022. PMID: 36151472 Free PMC article. No abstract available.
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Among authors: donald ka. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342 Free PMC article.
What is next in African neuroscience?
Donald KA, Maina M, Patel N, Nguemeni C, Mohammed W, Abubakar A, Brown M, Stoyanova R, Welchman A, Walker N, Willett A, Kariuki SM, Figaji A, Stein DJ, Ihunwo AO, Daniels W, Newton CR. Donald KA, et al. Elife. 2022 Jun 22;11:e80488. doi: 10.7554/eLife.80488. Elife. 2022. PMID: 35731202 Free PMC article.
A longitudinal resource for population neuroscience of school-age children and adolescents in China.
Fan XR, Wang YS, Chang D, Yang N, Rong MJ, Zhang Z, He Y, Hou X, Zhou Q, Gong ZQ, Cao LZ, Dong HM, Nie JJ, Chen LZ, Zhang Q, Zhang JX, Zhang L, Li HJ, Bao M, Chen A, Chen J, Chen X, Ding J, Dong X, Du Y, Feng C, Feng T, Fu X, Ge LK, Hong B, Hu X, Huang W, Jiang C, Li L, Li Q, Li S, Liu X, Mo F, Qiu J, Su XQ, Wei GX, Wu Y, Xia H, Yan CG, Yan ZX, Yang X, Zhang W, Zhao K, Zhu L; Chinese Color Nest Consortium (CCNC); Lifespan Brain Chart Consortium (LBCC); Zuo XN. Fan XR, et al. Sci Data. 2023 Aug 21;10(1):545. doi: 10.1038/s41597-023-02377-8. Sci Data. 2023. PMID: 37604823 Free PMC article.
178 results