Cascio L - Search Results

1

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. 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.

2

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Oberman LM, et al. Among authors: cascio l. Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9. Orphanet J Rare Dis. 2015. PMID: 26306707 Free PMC article.

3

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: cascio l. Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Nat Commun. 2017. PMID: 29097652 Free PMC article.

4

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: cascio l. Nat Commun. 2018 Jan 18;9(1):337. doi: 10.1038/s41467-017-02462-8. Nat Commun. 2018. PMID: 29348635 Free PMC article.

5

Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.

Boccuto L, Abenavoli L, Cascio L, Srikanth S, DuPont B, Mitz AR, Rogers RC, Phelan K. Boccuto L, et al. Among authors: cascio l. Clin Genet. 2018 Dec;94(6):590-591. doi: 10.1111/cge.13451. Epub 2018 Oct 11. Clin Genet. 2018. PMID: 30308089

6

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: cascio l. 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

7

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Srikanth S, et al. Among authors: cascio l. PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021. PLoS One. 2021. PMID: 34228749 Free PMC article.

8

Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.

Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann WE, DuPont B, Sarasua SM, Boccuto L. Jain L, et al. Among authors: cascio l. Clin Genet. 2022 Jan;101(1):87-100. doi: 10.1111/cge.14074. Epub 2021 Oct 27. Clin Genet. 2022. PMID: 34664257

9

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: cascio l. 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.

10

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.

Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Cooley Coleman JA, et al. Among authors: cascio l. Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. doi: 10.1093/hmg/ddac296. Hum Mol Genet. 2023. PMID: 36458889

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

28 results

Search Page