Pauly R - Search Results

1

A new test for autism spectrum disorder: Metabolic data from different cell types.

Srikanth S, Cascio L, Pauly R, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L. Srikanth S, et al. Among authors: pauly r. Data Brief. 2021 Nov 23;39:107598. doi: 10.1016/j.dib.2021.107598. eCollection 2021 Dec. Data Brief. 2021. PMID: 34877376 Free PMC article.

2

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG. Li C, et al. Among authors: pauly r. Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Nat Commun. 2017. PMID: 29097652 Free PMC article.

3

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG. Li C, et al. Among authors: pauly r. Nat Commun. 2018 Jan 18;9(1):337. doi: 10.1038/s41467-017-02462-8. Nat Commun. 2018. PMID: 29348635 Free PMC article.

4

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK. Abad C, et al. Among authors: pauly r. Biology (Basel). 2018 May 24;7(2):31. doi: 10.3390/biology7020031. Biology (Basel). 2018. PMID: 29794985 Free PMC article.

5

Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors.

Shen F, Boccuto L, Pauly R, Srikanth S, Chandrasekaran S. Shen F, et al. Among authors: pauly r. Genome Biol. 2019 Mar 1;20(1):49. doi: 10.1186/s13059-019-1661-z. Genome Biol. 2019. PMID: 30823893 Free PMC article.

6

Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.

Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT 2nd. Zarate YA, et al. Among authors: pauly r. Am J Med Genet A. 2019 Jun;179(6):1047-1052. doi: 10.1002/ajmg.a.61145. Epub 2019 Apr 2. Am J Med Genet A. 2019. PMID: 30941910 Review.

7

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

Cascio L, Chen CF, Pauly R, Srikanth S, Jones K, Skinner CD, Stevenson RE, Schwartz CE, Boccuto L. Cascio L, et al. Among authors: pauly r. Mol Genet Genomic Med. 2020 Jan;8(1):e1036. doi: 10.1002/mgg3.1036. Epub 2019 Nov 7. Mol Genet Genomic Med. 2020. PMID: 31701662 Free PMC article.

8

The Future of Clinical Diagnosis: Moving Functional Genomics Approaches to the Bedside.

Pauly R, Schwartz CE. Pauly R, et al. Clin Lab Med. 2020 Jun;40(2):221-230. doi: 10.1016/j.cll.2020.02.006. Clin Lab Med. 2020. PMID: 32439070 Review. No abstract available.

9

Autistic Disorder: A 20 Year Chronicle.

Skinner C, Pauly R, Skinner SA, Schroer RJ, Simensen RJ, Taylor HA, Friez MJ, DuPont BR, Stevenson RE. Skinner C, et al. Among authors: pauly r. J Autism Dev Disord. 2021 Feb;51(2):677-684. doi: 10.1007/s10803-020-04568-3. J Autism Dev Disord. 2021. PMID: 32592095

10

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification.

Dean JH, Pauly R, Stevenson RE. Dean JH, et al. Among authors: pauly r. J Pediatr. 2020 Nov;226:186-194.e4. doi: 10.1016/j.jpeds.2020.07.002. Epub 2020 Jul 5. J Pediatr. 2020. PMID: 32634404

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