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Orphanet Journal of Rare Diseases|August 27, 2015
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlationsLindsay M Oberman, Luigi Boccuto, Lauren Cascio, et al.
Metabolic Brain Disease|March 4, 2021
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterationsYuri A Zarate, Jenny-Li Örsell, Katherine Bosanko, et al.
Clinical Genetics|October 12, 2018
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphismLuigi Boccuto, Ludovico Abenavoli, Lauren Cascio, et al.
Molecular Genetics & Genomic Medicine|November 9, 2019
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum DisorderLauren Cascio, Chin-Fu Chen, Rini Pauly, et al.
Plos One|July 6, 2021
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndromeSujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, et al.
Data in Brief|December 8, 2021
A new test for autism spectrum disorder: Metabolic data from different cell typesSujata Srikanth, Lauren Cascio, Rini Pauly, et al.
Clinical Genetics|October 19, 2021
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizuresLavanya Jain, Lindsay M Oberman, Laura Beamer, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
Nature Communications|November 4, 2017
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
Nature Communications|January 20, 2018
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
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