Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors von Shen, Fangzhou, Boccuto, Luigi, Pauly, Rini, Srikanth, Sujata, Chandrasekaran, Sriram

Volltext

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome von Srikanth, Sujata, Jain, Lavanya, Zepeda-Mendoza, Cinthya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, DuPont, Barb, Rogers, Curtis, Sarasua, Sara, Phelan, Katy, Morton, Cynthia, Boccuto, Luigi

Volltext

SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies von Napolitano, Justin M, Srikanth, Sujata, Noorai, Rooksana E, Wilson, Stevin, Williams, Kaitlyn E, Rosales-Garcia, Ramses A, Krueger, Brian, Emerson, Chloe, Parker, Scott, Pruitt, John, Dango, Rachel, Iyer, Lax, Shafi, Adib, Jayawardena, Iromi, Parkinson, Christopher L, McMahan, Christopher, Rennert, Lior, Peng, Congyue Annie, Dean, Delphine

Volltext

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy von Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.

Volltext

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder von Cascio, Lauren, Chen, Chin‐Fu, Pauly, Rini, Srikanth, Sujata, Jones, Kelly, Skinner, Cindy D., Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi

Volltext

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations von Zarate, Yuri A., Örsell, Jenny-Li, Bosanko, Katherine, Srikanth, Sujata, Cascio, Lauren, Pauly, Rini, Boccuto, Luigi

Volltext

Genomic characterization of explant tumorgraft models derived from fresh patient tumor tissue von Monsma, David J, Monks, Noel R, Cherba, David M, Dylewski, Dawna, Eugster, Emily, Jahn, Hailey, Srikanth, Sujata, Scott, Stephanie B, Richardson, Patrick J, Everts, Robin E, Ishkin, Aleksandr, Nikolsky, Yuri, Resau, James H, Sigler, Robert, Nickoloff, Brian J, Webb, Craig P

Volltext

Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment von Pérez-Cano, Laura, Boccuto, Luigi, Sirci, Francesco, Hidalgo, Jose Manuel, Valentini, Samuel, Bosio, Mattia, Liogier D'Ardhuy, Xavier, Skinner, Cindy, Cascio, Lauren, Srikanth, Sujata, Jones, Kelly, Buchanan, Caroline B, Skinner, Steven A, Gomez-Mancilla, Baltazar, Hyvelin, Jean-Marc, Guney, Emre, Durham, Lynn

Volltext

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

Volltext

Bradykinin B2 receptor knockout mice are protected from thrombosis by increased nitric oxide and prostacyclin von Shariat-Madar, Zia, Mahdi, Fakhri, Warnock, Mark, Homeister, Jonathon W., Srikanth, Sujata, Krijanovski, Yelena, Murphey, Laine J., Jaffa, Ayad A., Schmaier, Alvin H.

Volltext

Gene Expression in Rat Lacrimal Gland Duct Cells Collected Using Laser Capture Microdissection: Evidence for K+ Secretion by Duct Cells von Ubels, John L, Hoffman, Holly M, Srikanth, Sujata, Resau, James H, Webb, Craig P

Volltext

Identification and diagnosis of long COVID-19: A scoping review von Srikanth, Sujata, Boulos, Jessica R., Dover, Tristan, Boccuto, Luigi, Dean, Delphine

Volltext

Microfluidic Diffusional Sizing (MDS) Measurements of Secretory Neutralizing Antibody Affinity Against SARS-CoV-2 von O’Mahoney, Cara, Watt, Ian, Fiedler, Sebastian, Devenish, Sean, Srikanth, Sujata, Justice, Erica, Dover, Tristan, Dean, Delphine, Peng, Congyue

Volltext

Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism von Colonna, Maxwell B, Moss, Tonya, Mokashi, Sneha, Srikanth, Sujata, Jones, Julie R, Foley, Jackson R, Skinner, Cindy, Lichty, Angie, Kocur, Anthony, Wood, Tim, Stewart, Tracy Murray, Casero Jr, Robert A, Flanagan-Steet, Heather, Edison, Arthur S, Lyons, Michael J, Steet, Richard

Volltext

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders von Cooley Coleman, Jessica A, Gass, Jennifer M, Srikanth, Sujata, Pauly, Rini, Ziats, Catherine A, Everman, David B, Skinner, Steven A, Bell, Shannon, Louie, Raymond J, Cascio, Lauren, Patterson, Wesley G, Jones, Julie R, Di Donato, Nataliya, Stevenson, Roger E, Boccuto, Luigi

Volltext

Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures von Jain, Lavanya, Oberman, Lindsay M., Beamer, Laura, Cascio, Lauren, May, Melanie, Srikanth, Sujata, Skinner, Cindy, Jones, Kelly, Allen, Bridgette, Rogers, Curtis, Phelan, Katy, Kaufmann, Walter E., DuPont, Barbara, Sarasua, Sara M., Boccuto, Luigi

Volltext

Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome von Zarate, Yuri A., Boccuto, Luigi, Srikanth, Sujata, Pauly, Rini, Ocal, Eylem, Balmakund, Tonya, Hinkle, Kevin, Stefans, Vikki, Schaefer, Gerald B., Collins, Ronnie Thomas

Volltext

Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism von Boccuto, Luigi, Abenavoli, Ludovico, Cascio, Lauren, Srikanth, Sujata, DuPont, Barbara, Mitz, Andrew R., Rogers, Roger Curtis, Phelan, Katy

Volltext

Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder von Pauly, Rini, Cascio, Lauren, Srikanth, Sujata, Jones, Kelly, Sorrow, Skylar, Cubillan, Rossana, Chen, Chin-Fu, Skinner, Cindy D., Champaigne, Kevin, Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi

Volltext

Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals von Moffitt, Bridgette A., Oberman, Lindsay M., Beamer, Laura, Srikanth, Sujata, Jain, Lavanya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, May, Melanie, Skinner, Cindy, Buchanan, Caroline, DuPont, Barbara R., Kaufmann, Walter E., Valentine, Kathleen, Ward, Linda D., Ivankovic, Diana, Rogers, R. Curtis, Phelan, Katy, Sarasua, Sara M., Boccuto, Luigi

Volltext