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

Year Number of Results
1975 1
1984 2
1985 1
1986 2
1987 1
1988 5
1989 2
1990 2
1991 1
1992 3
1994 1
1995 4
1997 3
1999 3
2000 2
2001 2
2002 4
2003 3
2004 1
2005 4
2006 4
2007 7
2008 4
2009 3
2010 4
2011 3
2012 1
2013 5
2014 6
2015 6
2016 8
2017 9
2018 6
2019 9
2020 8
2021 9
2022 9
2023 6
2024 6
2025 6

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147 results

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Page 1
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: spiller m. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Dardas Z, Harrold L, Calame DG, Salter CG, Kikuma T, Guay KP, Ng BG, Sano K, Saad AK, Du H, Sangermano R, Patankar SG, Jhangiani SN, Gürsoy S, Abdel-Hamid MS, Ahmed MKH, Maroofian R, Kaiyrzhanov R, Salayev K, Jones WD, Pérez Caballero A, McGavin L, Spiller M, Durkie M, Wood N, O'Grady L, Goldenberg P, Neumeyer AM, Begtrup A, Abdel-Ghafar SF, Zaki MS, Van Esch H, Posey JE, Wenger OK, Scott EM, Bujakowska KM, Gibbs RA, Pehlivan D, Marafi D, Leslie JS, Ubeyratna N, Day J, Owens M, Settle J, Balkhy S, Tamim A, Alabdi L, Alkuraya FS, Takeda Y, Freeze HH, Hebert DN, Lupski JR, Crosby AH, Baple EL. Dardas Z, et al. Among authors: spiller m. Am J Hum Genet. 2025 May 1;112(5):1139-1157. doi: 10.1016/j.ajhg.2025.03.018. Epub 2025 Apr 22. Am J Hum Genet. 2025. PMID: 40267907 Free PMC article.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: spiller m. Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27. Genet Med. 2025. PMID: 39737487 Free article.
Evaluating Variance Estimators for Respondent-Driven Sampling.
Spiller MW, Gile KJ, Handcock MS, Mar CM, Wejnert C. Spiller MW, et al. J Surv Stat Methodol. 2017;2017:smx018. doi: 10.1093/jssam/smx018. Epub 2017 Aug 17. J Surv Stat Methodol. 2017. PMID: 29376083 Free PMC article. No abstract available.
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S, Brady AF, Balasubramanian M, Munot P. Sabanathan S, et al. Among authors: spiller m. Neuromuscul Disord. 2023 Jan;33(1):50-57. doi: 10.1016/j.nmd.2022.10.004. Epub 2022 Oct 25. Neuromuscul Disord. 2023. PMID: 36522252 Review.
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel AL, Cappuccio G, Brunetti-Pierri N, Willems M, Isidor B, Park K, Balasubramanian M. Taylor J, et al. Among authors: spiller m. Am J Med Genet A. 2022 May;188(5):1497-1514. doi: 10.1002/ajmg.a.62677. Epub 2022 Feb 9. Am J Med Genet A. 2022. PMID: 35138025 Free PMC article. Review.
Folding and biogenesis of mitochondrial small Tim proteins.
Ceh-Pavia E, Spiller MP, Lu H. Ceh-Pavia E, et al. Among authors: spiller mp. Int J Mol Sci. 2013 Aug 13;14(8):16685-705. doi: 10.3390/ijms140816685. Int J Mol Sci. 2013. PMID: 23945562 Free PMC article. Review.
147 results