Jones JR - Search Results

1

Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.

Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA Jr, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Colonna MB, et al. Among authors: jones jr. Hum Mol Genet. 2023 Feb 19;32(5):732-744. doi: 10.1093/hmg/ddac226. Hum Mol Genet. 2023. PMID: 36067040 Free PMC article.

2

Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.

Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Jones JR, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2213-20. doi: 10.1002/ajmg.a.32396. Am J Med Genet A. 2008. PMID: 18698615 Review.

3

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.

Takano K, Lyons M, Moyes C, Jones J, Schwartz CE. Takano K, et al. Clin Genet. 2010 Sep;78(3):282-8. doi: 10.1111/j.1399-0004.2010.01380.x. Epub 2010 Feb 10. Clin Genet. 2010. PMID: 20184619

4

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM, Jones JR, Wood TC. Pollard LM, et al. Among authors: jones jr. J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14. J Inherit Metab Dis. 2013. PMID: 22976768

5

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Bronicki LM, et al. Among authors: jones jr. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Eur J Hum Genet. 2015. PMID: 25920557 Free PMC article.

6

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.

Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. Smith JA, et al. Among authors: jones jr. Am J Med Genet A. 2016 Dec;170(12):3313-3318. doi: 10.1002/ajmg.a.37945. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27570168

7

Transgenerational Inheritance of Familial Lipomyelomeningocele.

Larrew T, Eskandari R, Holden KR, Chen A, Spellicy CJ, Jones JR, Lee JA, Lyons MJ. Larrew T, et al. Among authors: jones jr. J Child Neurol. 2017 Dec;32(14):1118-1122. doi: 10.1177/0883073817736701. J Child Neurol. 2017. PMID: 29129155

8

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.

Gershlick DC, Ishida M, Jones JR, Bellomo A, Bonifacino JS, Everman DB. Gershlick DC, et al. Among authors: jones jr. Hum Mol Genet. 2019 May 1;28(9):1548-1560. doi: 10.1093/hmg/ddy423. Hum Mol Genet. 2019. PMID: 30624672 Free PMC article.

9

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy CJ, Peng Y, Olewiler L, Cathey SS, Rogers RC, Bartholomew D, Johnson J, Alexov E, Lee JA, Friez MJ, Jones JR. Spellicy CJ, et al. Among authors: jones jr. J Hum Genet. 2019 Jun;64(6):561-572. doi: 10.1038/s10038-019-0585-5. Epub 2019 Mar 11. J Hum Genet. 2019. PMID: 30858506

10

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Lessel I, Chen MJ, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones JR, Shaw BR, Crossman DK, Nürnberg P, Korf BR, Kubisch C, Lessel D. Lessel I, et al. Among authors: jones jr. Hum Genet. 2020 Apr;139(4):483-498. doi: 10.1007/s00439-019-02105-6. Epub 2020 Feb 13. Hum Genet. 2020. PMID: 32055997 Free PMC article.

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