Newton SA - Search Results

1

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Jamuar SS, et al. Among authors: newton sa. Mol Genet Metab. 2012 Aug;106(4):488-90. doi: 10.1016/j.ymgme.2012.05.018. Epub 2012 May 30. Mol Genet Metab. 2012. PMID: 22771013

2

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. Joshi M, et al. Among authors: newton sa. Eur J Hum Genet. 2014 Oct;22(10):1229-32. doi: 10.1038/ejhg.2014.8. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549054 Free PMC article.

3

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.

Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry GT. Torres A, et al. Among authors: newton sa. JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26. JIMD Rep. 2015. PMID: 26006721 Free PMC article.

4

A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.

Zou YS, Newton S, Milunsky JM. Zou YS, et al. Am J Med Genet A. 2010 Feb;152A(2):498-503. doi: 10.1002/ajmg.a.33266. Am J Med Genet A. 2010. PMID: 20101702 No abstract available.

5

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. Huang XL, et al. Am J Med Genet A. 2010 Aug;152A(8):2112-4. doi: 10.1002/ajmg.a.33497. Am J Med Genet A. 2010. PMID: 20635338 No abstract available.

6

Further delineation of the critical region for the 9p-duplication syndrome.

Zou YS, Huang XL, Ito M, Newton S, Milunsky JM. Zou YS, et al. Am J Med Genet A. 2009 Feb;149A(2):272-6. doi: 10.1002/ajmg.a.32607. Am J Med Genet A. 2009. PMID: 19161157 No abstract available.

7

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.

Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher TA, Tager-Flusberg H, Bolliger MF, Carter AS, Boucard AA, Powell CM, Südhof TC. Zhang C, et al. J Neurosci. 2009 Sep 2;29(35):10843-54. doi: 10.1523/JNEUROSCI.1248-09.2009. J Neurosci. 2009. PMID: 19726642 Free PMC article.

8

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM. Jamal SM, et al. Am J Med Genet A. 2010 Oct;152A(10):2475-81. doi: 10.1002/ajmg.a.33611. Am J Med Genet A. 2010. PMID: 20830798

9

Gene-environment interactions within a precision environmental health framework.

Motsinger-Reif AA, Reif DM, Akhtari FS, House JS, Campbell CR, Messier KP, Fargo DC, Bowen TA, Nadadur SS, Schmitt CP, Pettibone KG, Balshaw DM, Lawler CP, Newton SA, Collman GW, Miller AK, Merrick BA, Cui Y, Anchang B, Harmon QE, McAllister KA, Woychik R. Motsinger-Reif AA, et al. Among authors: newton sa. Cell Genom. 2024 Jul 10;4(7):100591. doi: 10.1016/j.xgen.2024.100591. Epub 2024 Jun 25. Cell Genom. 2024. PMID: 38925123 Free PMC article. Review.

10

Vasectomy Regret Among Childless Men.

Charles DK, Anderson DJ, Newton SA, Dietrich PN, Sandlow JI. Charles DK, et al. Among authors: newton sa. Urology. 2023 Feb;172:111-114. doi: 10.1016/j.urology.2022.11.027. Epub 2022 Dec 5. Urology. 2023. PMID: 36481202

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