Newton S - Search Results

1

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. Among authors: newton s. 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.

2

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. Among authors: newton s. 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.

3

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. Among authors: newton s. 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.

4

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. Among authors: newton s. 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

5

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. Among authors: newton s. J Neurosci. 2009 Sep 2;29(35):10843-54. doi: 10.1523/JNEUROSCI.1248-09.2009. J Neurosci. 2009. PMID: 19726642 Free PMC article.

6

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

7

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.

8

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.

9

Building a growing genomic data repository for maternal and fetal health through the PING Consortium.

Abdelmalek CM, Singh S, Fasil B, Horvath AR, Mulkey SB, Curé C, Campos M, Cavalcanti DP, Tong VT, Mercado M, Daza M, Marcela Benavides M, Acosta J, Gilboa S, Valencia D, Sancken CL, Newton S, Scalabrin DMF, Mussi-Pinhata MM, Vasconcelos Z, Chakhtoura N, Moye J, Leslie EJ, Bulas D, Vezina G, Marques FJP, Leyser M, Del Campo M, Vilain E, DeBiasi RL, Wang T, Nath A, Haydar T, Muenke M, Mansour TA, du Plessis AJ, Murray JC, Cordero JF, Kousa YA. Abdelmalek CM, et al. Among authors: newton s. medRxiv [Preprint]. 2024 May 25:2024.05.24.24307899. doi: 10.1101/2024.05.24.24307899. medRxiv. 2024. PMID: 38826415 Free PMC article. Preprint.

10

Genetic Variations in EIF2AK3 are Associated with Neurocognitive Impairment in People Living with HIV.

Akay-Espinoza C, Newton SEB, Dombroski BA, Kallianpur A, Bharti A, Franklin DR, Schellenberg GD, Heaton RK, Grant I, Ellis RJ, Letendre SL, Jordan-Sciutto KL. Akay-Espinoza C, et al. Among authors: newton seb. J Neuroimmune Pharmacol. 2024 May 25;19(1):25. doi: 10.1007/s11481-024-10125-x. J Neuroimmune Pharmacol. 2024. PMID: 38789639 Free PMC article.

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