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Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036
By:
- Cascio, Lauren;
- Chen, Chin‐Fu;
- Pauly, Rini;
- Srikanth, Sujata;
- Jones, Kelly;
- Skinner, Cindy D.;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Boccuto, Luigi
Publication type:
Article
Gene integrated set profile analysis: a context-based approach for inferring biological endpoints.
Published in:
Nucleic Acids Research, 2016, v. 44, n. 7, p. e69, doi. 10.1093/nar/gkv1503
By:
- Kowalski, Jeanne;
- Dwivedi, Bhakti;
- Newman, Scott;
- Switchenko, Jeffery M.;
- Pauly, Rini;
- Gutman, David A.;
- Arora, Jyoti;
- Gandhi, Khanjan;
- Ainslie, Kylie;
- Doho, Gregory;
- Qin, Zhaohui;
- Moreno, Carlos S.;
- Rossi, Michael R.;
- Vertino, Paula M.;
- Lonial, Sagar;
- Bernal-Mizrachi, Leon;
- Boise, Lawrence H.
Publication type:
Article
Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1047, doi. 10.1002/ajmg.a.61145
By:
- Zarate, Yuri A.;
- Boccuto, Luigi;
- Srikanth, Sujata;
- Pauly, Rini;
- Ocal, Eylem;
- Balmakund, Tonya;
- Hinkle, Kevin;
- Stefans, Vikki;
- Schaefer, Gerald B.;
- Collins, Ronnie Thomas
Publication type:
Article
Farewell to GBM-O: Genomic and transcriptomic profiling of glioblastoma with oligodendroglioma component reveals distinct molecular subgroups.
Published in:
Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-015-0270-7
By:
- Hinrichs, Benjamin H.;
- Newman, Scott;
- Appin, Christina L.;
- Dunn, William;
- Cooper, Lee;
- Pauly, Rini;
- Kowalski, Jeanne;
- Rossi, Michael R.;
- Brat, Daniel J.
Publication type:
Article
Insect Innate Immunity Database (IIID): An Annotation Tool for Identifying Immune Genes in Insect Genomes.
Published in:
PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045125
By:
- Brucker, Robert M.;
- Funkhouser, Lisa J.;
- Setia, Shefali;
- Pauly, Rini;
- Bordenstein, Seth R.;
- Promponas, Vasilis J.
Publication type:
Article
Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study.
Published in:
Journal of Autism & Developmental Disorders, 2023, v. 53, n. 9, p. 3595, doi. 10.1007/s10803-022-05631-x
By:
- Hickman, Allison R.;
- Selee, Bradley;
- Pauly, Rini;
- Husain, Benafsh;
- Hang, Yuqing;
- Feltus, Frank Alex
Publication type:
Article
Autistic Disorder: A 20 Year Chronicle.
Published in:
Journal of Autism & Developmental Disorders, 2021, v. 51, n. 2, p. 677, doi. 10.1007/s10803-020-04568-3
By:
- Skinner, Cindy;
- Pauly, Rini;
- Skinner, Steven A.;
- Schroer, Richard J.;
- Simensen, Richard J.;
- Taylor, Harold A.;
- Friez, Michael J.;
- DuPont, Barbara R.;
- Stevenson, Roger E.
Publication type:
Article
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
Published in:
PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0253859
By:
- 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
Publication type:
Article
Identification of condition-specific biomarker systems in uterine cancer.
Published in:
G3: Genes | Genomes | Genetics, 2022, v. 12, n. 1, p. 1, doi. 10.1093/g3journal/jkab392
By:
- Hickman, Allison R.;
- Yuqing Hang;
- Pauly, Rini;
- Feltus, Frank A.
Publication type:
Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
By:
- Coleman, Jessica A Cooley;
- 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;
- Donato, Nataliya Di;
- Stevenson, Roger E;
- Boccuto, Luigi
Publication type:
Article
Simplified detection of genetic background admixture using artificial intelligence.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 247, doi. 10.1111/cge.14527
By:
- Pauly, Rini;
- Alexander Feltus, Frank
Publication type:
Article
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Published in:
Clinical Genetics, 2023, v. 104, n. 2, p. 198, doi. 10.1111/cge.14361
By:
- 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
Publication type:
Article
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Published in:
Biology (2079-7737), 2018, v. 7, n. 2, p. 31, doi. 10.3390/biology7020031
By:
- Abad, Clemer;
- Cook, Melissa M.;
- Cao, Lei;
- Jones, Julie R.;
- Rao, Nalini R.;
- Dukes-Rimsky, Lynn;
- Pauly, Rini;
- Skinner, Cindy;
- Wang, Yunsheng;
- Luo, Feng;
- Stevenson, Roger E.;
- Walz, Katherina;
- Srivastava, Anand K.
Publication type:
Article
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.
Published in:
NPJ Precision Oncology, 2022, v. 6, n. 1, p. 1, doi. 10.1038/s41698-022-00306-3
By:
- Bonner, Erin R.;
- Harrington, Robin;
- Eze, Augustine;
- Bornhorst, Miriam;
- Kline, Cassie N.;
- Gordish-Dressman, Heather;
- Dawood, Adam;
- Das, Biswajit;
- Chen, Li;
- Pauly, Rini;
- Williams, P. Mickey;
- Karlovich, Chris;
- Peach, Amanda;
- Howell, D'andra;
- Doroshow, James;
- Kilburn, Lindsay;
- Packer, Roger J.;
- Mueller, Sabine;
- Nazarian, Javad
Publication type:
Article
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
By:
- Chong Li;
- Brazill, Jennifer M.;
- Sha Liu;
- Bello, Christofer;
- Yi Zhu;
- Morimoto, Marie;
- Cascio, Lauren;
- Pauly, Rini;
- Diaz-Perez, Zoraida;
- Malicdan, May Christine V.;
- Hongbo Wang;
- Boccuto, Luigi;
- Schwartz, Charles E.;
- Gahl, William A.;
- Boerkoel, Cornelius F.;
- Zhai, R. Grace
Publication type:
Article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7
By:
- Chong Li;
- Brazill, Jennifer M.;
- Sha Liu;
- Bello, Christofer;
- Yi Zhu;
- Morimoto, Marie;
- Cascio, Lauren;
- Pauly, Rini;
- Diaz-Perez, Zoraida;
- Malicdan, May Christine V.;
- Hongbo Wang;
- Boccuto, Luigi;
- Schwartz, Charles E.;
- Gahl, William A.;
- Boerkoel, Cornelius F.;
- Zhai, R. Grace
Publication type:
Article
Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors.
Published in:
Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1661-z
By:
- Shen, Fangzhou;
- Boccuto, Luigi;
- Pauly, Rini;
- Srikanth, Sujata;
- Chandrasekaran, Sriram
Publication type:
Article
Identification of condition-specific regulatory mechanisms in normal and cancerous human lung tissue.
Published in:
BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08591-9
By:
- Hang, Yuqing;
- Burns, Josh;
- Shealy, Benjamin T.;
- Pauly, Rini;
- Ficklin, Stephen P.;
- Feltus, Frank A.
Publication type:
Article
Identification of condition-specific regulatory mechanisms in normal and cancerous human lung tissue.
Published in:
BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08591-9
By:
- Hang, Yuqing;
- Burns, Josh;
- Shealy, Benjamin T.;
- Pauly, Rini;
- Ficklin, Stephen P.;
- Feltus, Frank A.
Publication type:
Article

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