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Page 1
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: alexander n. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Lu HC, et al. Among authors: alexander n. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. Nat Genet. 2017. PMID: 28288114 Free PMC article.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK. Ye Y, et al. Among authors: alexander n. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148570 Free PMC article.
A copy number variation morbidity map of developmental delay.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. Cooper GM, et al. Among authors: alexander n. Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Nat Genet. 2011. PMID: 21841781 Free PMC article.
Transdiagnostic alterations in white matter microstructure associated with suicidal thoughts and behaviours in the ENIGMA Suicidal Thoughts and Behaviours consortium.
van Velzen LS, Colic L, Ceja Z, Dauvermann MR, Villa LM, Savage HS, Toenders YJ, Dehestani N, Zhu AH, Campos AI, Salminen LE, Agartz I, Alexander N, Ayesa-Arriola R, Ballard ED, Banaj N, Barkhau C, Başgöze Z, Bauer J, Benedetti F, Berger K, Besteher B, Brosch K, Canal-Rivero M, Cervenka S, Colle R, Connolly CG, Corruble E, Courtet P, Couvy-Duchesne B, Crespo-Facorro B, Cullen KR, Dannlowski U, Deverdun J, Diaz-Zuluaga AM, Dietze LMF, Evans JW, Fani N, Flinkenflügel K, Friedman NP, Gotlib IH, Groenewold NA, Grotegerd D, Hajek T, Hatoum AS, Hermesdorf M, Hickie IB, Hirano Y, Ho TC, Ikemizu Y, Iorfino F, Ipser JC, Isobe Y, Jackowski AP, Jollant F, Kircher T, Klug M, Koopowitz SM, Kraus A, Krug A, Bars EL, Leehr EJ, Li M, Lippard ETC, Lopez-Jaramillo C, Maximov II, McIntosh AM, McLaughlin KA, McWhinney SR, Meinert S, Melloni E, Mitchell PB, Mwangi B, Nenadić I, Nerland S, Olie E, Ortiz-García de la Foz V, Pan PM, Pereira F, Piras F, Piras F, Poletti S, Reineberg AE, Roberts G, Romero-García R, Sacchet MD, Salum GA, Sandu AL, Sellgren CM, Shimizu E, Smolker HR, Soares JC, Spalletta G, Steele JD, Stein F, Stein DJ, Straube B, Teutenberg L, Thomas-Odenthal F, Usemann P, Valabregue… See abstract for full author list ➔ van Velzen LS, et al. Among authors: alexander n. medRxiv [Preprint]. 2024 Nov 7:2024.11.07.24316876. doi: 10.1101/2024.11.07.24316876. medRxiv. 2024. PMID: 39802789 Free PMC article. Preprint.
Status of surface electromyography assessment as part of clinical gait analysis in the management of patients with cerebral palsy - Outcomes of a Delphi process.
Reisig R, Alexander N, Armand S, Barton GJ, Böhm H, Boulay C, Brunner R, Castagna A, Davoudi M, Desailly E, Desloovere K, Dussa CU, Gasq D, Gross R, Kranzl A, Leboeuf F, Lencioni T, Ounpuu S, Passmore E, Patikas DA, Pierz KA, Rutz E, Salami F, Schreiber C, Stief F, Thomason P, van der Krogt MM, Wolf SI. Reisig R, et al. Among authors: alexander n. Gait Posture. 2024 Dec 9;117:72-77. doi: 10.1016/j.gaitpost.2024.12.009. Online ahead of print. Gait Posture. 2024. PMID: 39674065 Free article.
1,221 results