Pauly R - Search Results

1

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B. Schenkel LC, et al. Among authors: pauly r. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 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

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.

5

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.

6

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.

7

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.

8

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

9

New Strategies for Clinical Trials in Autism Spectrum Disorder.

Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L. Pauly R, et al. Rev Recent Clin Trials. 2021;16(2):131-137. doi: 10.2174/1574887115666201120093634. Rev Recent Clin Trials. 2021. PMID: 33222679 Review.

10

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.

Zarate YA, Örsell JL, Bosanko K, Srikanth S, Cascio L, Pauly R, Boccuto L. Zarate YA, et al. Among authors: pauly r. Metab Brain Dis. 2021 Jun;36(5):1049-1056. doi: 10.1007/s11011-021-00706-7. Epub 2021 Mar 4. Metab Brain Dis. 2021. PMID: 33661512

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