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Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327.
Brain. 2022.
PMID: 35190816
Free PMC article.
Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study.
Ng-Cordell E, Kolesnik-Taylor A, O'Brien S, Astle D, Scerif G, Baker K.
Ng-Cordell E, et al. Among authors: kolesnik taylor a.
J Autism Dev Disord. 2023 Aug;53(8):3208-3219. doi: 10.1007/s10803-022-05527-w. Epub 2022 May 10.
J Autism Dev Disord. 2023.
PMID: 35536379
Free PMC article.
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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
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.
Melland H, et al. Among authors: kolesnik taylor a.
Genet Med. 2022 Apr;24(4):880-893. doi: 10.1016/j.gim.2021.12.002. Epub 2022 Jan 29.
Genet Med. 2022.
PMID: 35101335
Free PMC article.
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Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I.
Begum-Ali J, Kolesnik-Taylor A, Quiroz I, Mason L, Garg S, Green J, Johnson MH, Jones EJH; STAARS and EDEN Teams.
Begum-Ali J, et al. Among authors: kolesnik taylor a.
J Neurodev Disord. 2021 May 28;13(1):22. doi: 10.1186/s11689-021-09364-3.
J Neurodev Disord. 2021.
PMID: 34049498
Free PMC article.
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Early Developmental Trajectories in Infants With Neurofibromatosis 1.
Garg S, Wan MW, Begum-Ali J, Kolesnik-Taylor A, Green J, Johnson MH, Jones E.
Garg S, et al. Among authors: kolesnik taylor a.
Front Psychol. 2022 Jul 22;13:795951. doi: 10.3389/fpsyg.2022.795951. eCollection 2022.
Front Psychol. 2022.
PMID: 35936291
Free PMC article.
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Neuronal gating of tactile input and sleep in 10-month-old infants at typical and elevated likelihood for autism spectrum disorder.
De Laet A, Piccardi ES, Begum-Ali J, Charman T, Johnson MH, Jones EJH, Bedford R, Gliga T; STAARS Team.
De Laet A, et al.
Sci Rep. 2022 Aug 19;12(1):14188. doi: 10.1038/s41598-022-18018-w.
Sci Rep. 2022.
PMID: 35986046
Free PMC article.
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Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ, Tan HK, Andersson MHL, Stephenson JD, Gardner EJ, Ironfield H, Waters AJ, Gitterman D, Lindsay S, Abascal F, Martincorena I, Kolesnik-Taylor A, Ng-Cordell E, Firth HV, Baker K, Perry JRB, Adams DJ, Gerety SS, Hurles ME.
Radford EJ, et al. Among authors: kolesnik taylor a.
Nat Commun. 2023 Dec 6;14(1):7702. doi: 10.1038/s41467-023-43041-4.
Nat Commun. 2023.
PMID: 38057330
Free PMC article.
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