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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2009 1
2012 1
2013 1
2016 1
2018 1
2019 1
2020 4
2021 2
2022 5
2023 1
2024 0

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18 results

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Page 1
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.
Massey S, Guo Y, Riley LG, Van Bergen NJ, Sandaradura SA, McCusker E, Tchan M, Thauvin-Robinet C, Thomas Q, Moreau T, Davis M, Smits D, Mancini GMS, Hakonarson H, Cooper S, Christodoulou J. Massey S, et al. Neurol Genet. 2023 Jan 23;9(1):e200051. doi: 10.1212/NXG.0000000000200051. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36698452 Free PMC article.
Sexual Hookup Culture: A Review.
Garcia JR, Reiber C, Massey SG, Merriwether AM. Garcia JR, et al. Among authors: massey sg. Rev Gen Psychol. 2012 Jun 1;16(2):161-176. doi: 10.1037/a0027911. Rev Gen Psychol. 2012. PMID: 23559846 Free PMC article.
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
White R, Schiemann AH, Burling SM, Bjorksten A, Bulger T, Gillies R, Hopkins PM, Kamsteeg EJ, Machon RG, Massey S, Miller D, Perry M, Snoeck MMJ, Stephens J, Street N, van den Bersselaar LR, Stowell KM. White R, et al. Among authors: massey s. Br J Anaesth. 2022 Dec;129(6):879-888. doi: 10.1016/j.bja.2022.08.029. Epub 2022 Oct 6. Br J Anaesth. 2022. PMID: 36208971 Free article.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C; MCRI Rare Diseases Flagship; Wickramasinghe VO, White SM, Christodoulou J. Van Bergen NJ, et al. Among authors: massey s. Hum Mol Genet. 2022 Feb 3;31(3):362-375. doi: 10.1093/hmg/ddab248. Hum Mol Genet. 2022. PMID: 34494102 Free PMC article.
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
Kaur S, Van Bergen NJ, Ben-Zeev B, Leonardi E, Tan TY, Coman D, Kamien B, White SM, St John M, Phelan D, Rigbye K, Lim SC, Torres MC, Marty M, Savva E, Zhao T, Massey S, Murgia A, Gold WA, Christodoulou J. Kaur S, et al. Among authors: massey s. J Genet Genomics. 2020 Oct 20;47(10):650-654. doi: 10.1016/j.jgg.2020.09.003. Epub 2020 Nov 4. J Genet Genomics. 2020. PMID: 33386251 No abstract available.
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J. Van Bergen NJ, et al. Among authors: massey s. J Exp Med. 2020 Oct 5;217(10):e20192040. doi: 10.1084/jem.20192040. J Exp Med. 2020. PMID: 32639540 Free PMC article.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Among authors: massey s. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.
18 results