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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30.
Am J Hum Genet. 2023.
PMID: 36586412
Free PMC article.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T.
van Woerden GM, et al.
Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1.
Hum Mutat. 2021.
PMID: 33565190
Free PMC article.
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB.
Faridi R, et al. Among authors: noyes ag.
Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13.
Clin Genet. 2023.
PMID: 36807241
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.
Rosenfeld JA, et al.
Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.
Eur J Hum Genet. 2012.
PMID: 22317977
Free PMC article.
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Effects of bilateral and unilateral ophthalmectomy on plasma melatonin in Rana tadpoles and froglets under various experimental conditions.
Wright ML, Francisco LL, Scott JL, Richardson SE, Carr JA, King AB, Noyes AG, Visconti RF.
Wright ML, et al. Among authors: noyes ag.
Gen Comp Endocrinol. 2006 Jun;147(2):158-66. doi: 10.1016/j.ygcen.2005.12.014. Epub 2006 Feb 3.
Gen Comp Endocrinol. 2006.
PMID: 16458309
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