Shimony JS - Search Results

1

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.

Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Wambach JA, et al. Among authors: shimony js. Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4. Pediatr Res. 2018. PMID: 29967526 Free PMC article.

2

MR imaging correlates of white-matter pathology in a preterm baboon model.

Griffith JL, Shimony JS, Cousins SA, Rees SE, McCurnin DC, Inder TE, Neil JJ. Griffith JL, et al. Among authors: shimony js. Pediatr Res. 2012 Feb;71(2):185-91. doi: 10.1038/pr.2011.33. Epub 2011 Dec 21. Pediatr Res. 2012. PMID: 22258130 Free PMC article.

3

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, Shinawi M. Al-Kateb H, et al. Among authors: shimony js. Am J Med Genet A. 2013 Feb;161A(2):377-81. doi: 10.1002/ajmg.a.35650. Epub 2013 Jan 8. Am J Med Genet A. 2013. PMID: 23300014 No abstract available.

4

Diffusion tractography and neuromotor outcome in very preterm children with white matter abnormalities.

Estep ME, Smyser CD, Anderson PJ, Ortinau CM, Wallendorf M, Katzman CS, Doyle LW, Thompson DK, Neil JJ, Inder TE, Shimony JS. Estep ME, et al. Among authors: shimony js. Pediatr Res. 2014 Jul;76(1):86-92. doi: 10.1038/pr.2014.45. Epub 2014 Apr 8. Pediatr Res. 2014. PMID: 24713814 Free PMC article.

5

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H. Shinawi M, et al. Among authors: shimony js. Clin Genet. 2015 May;87(5):478-82. doi: 10.1111/cge.12407. Epub 2014 May 20. Clin Genet. 2015. PMID: 24738973

6

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.

Calì T, Lopreiato R, Shimony J, Vineyard M, Frizzarin M, Zanni G, Zanotti G, Brini M, Shinawi M, Carafoli E. Calì T, et al. J Biol Chem. 2015 Jun 26;290(26):16132-41. doi: 10.1074/jbc.M115.656496. Epub 2015 May 7. J Biol Chem. 2015. PMID: 25953895 Free PMC article.

7

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Wineland A, et al. Among authors: shimony js. JAMA Otolaryngol Head Neck Surg. 2017 Feb 1;143(2):168-177. doi: 10.1001/jamaoto.2016.3175. JAMA Otolaryngol Head Neck Surg. 2017. PMID: 27832265

8

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302

9

Altered neonatal white and gray matter microstructure is associated with neurodevelopmental impairments in very preterm infants with high-grade brain injury.

Lean RE, Han RH, Smyser TA, Kenley JK, Shimony JS, Rogers CE, Limbrick DD Jr, Smyser CD. Lean RE, et al. Among authors: shimony js. Pediatr Res. 2019 Sep;86(3):365-374. doi: 10.1038/s41390-019-0461-1. Epub 2019 Jun 18. Pediatr Res. 2019. PMID: 31212303 Free PMC article.

10

Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Wongkittichote P, Magistrati M, Shimony JS, Smyser CD, Fatemi SA, Fine AS, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Among authors: shimony js. Mol Genet Metab. 2022 Aug;136(4):260-267. doi: 10.1016/j.ymgme.2022.07.002. Epub 2022 Jul 5. Mol Genet Metab. 2022. PMID: 35820270

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