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

por Cascio, Lauren, Chen, Chin‐Fu, Pauly, Rini, Srikanth, Sujata, Jones, Kelly, Skinner, Cindy D., Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi
Publicado 2019

Decreased tryptophan metabolism in patients with autism spectrum disorders

por Boccuto, Luigi, Chen, Chin-Fu, Pittman, Ayla R, Skinner, Cindy D, McCartney, Heather J, Jones, Kelly, Bochner, Barry R, Stevenson, Roger E, Schwartz, Charles E
Publicado 2013

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

por Haghshenas, Sadegheh, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, McConkey, Haley, Balci, Tugce, Siu, Victoria Mok, Skinner, Cindy D., Stevenson, Roger E., Sadikovic, Bekim, Schwartz, Charles
Publicado 2021

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

por Srikanth, Sujata, Cascio, Lauren, Pauly, Rini, Jones, Kelly, Sorrow, Skylar, Cubillan, Rossana, Chen, Chin-Fu, Skinner, Cindy D., Champaigne, Kevin, Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi
Publicado 2021

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

por Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.
Publicado 2022