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Author/Creator Pauly, Rini

1. Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder. Issue 1 (7th November 2019)

Authors:
Cascio, Lauren; Chen, Chin‐Fu; Pauly, Rini; Srikanth, Sujata; Jones, Kelly; Skinner, Cindy D.; Stevenson, Roger E.; Schwartz, Charles E.; Boccuto, Luigi
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 1(2020)
Page Start:
n/a
Record Type:
Journal Article
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2. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders. Issue 9 (2nd December 2022)

Authors:
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
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 9(2023)
Page Start:
1457
Record Type:
Journal Article
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3. Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Issue 6 (2nd April 2019)

Authors:
Zarate, Yuri A.; Boccuto, Luigi; Srikanth, Sujata; Pauly, Rini; Ocal, Eylem; Balmakund, Tonya; Hinkle, Kevin; Stefans, Vikki; Schaefer, Gerald B.; Collins, Ronnie Thomas
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 6(2019)
Page Start:
1047
Record Type:
Journal Article
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4. Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder. (July 2021)

Authors:
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
Journal:
Research in autism spectrum disorders
Issue:
Volume 85(2021)
Page Start:
Record Type:
Journal Article
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5. DIPG-47. TSO500ctDNA sequencing reveals oncogenic mutations and copy number variations in the liquid biome of children with diffuse midline glioma. (3rd June 2022)

Authors:
Bonner, Erin R; Harrington, Robin; Eze, Augustine; Bornhorst, Miriam; Kline, Cassie N; 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
Journal:
Neuro-oncology
Issue:
Volume 24(2022)Supplement 1
Page Start:
i29
Record Type:
Journal Article
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7. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Issue 1 (December 2017)

Authors:
Li, Chong; Brazill, Jennifer; Liu, Sha; Bello, Christofer; Zhu, Yi; Morimoto, Marie; Cascio, Lauren; Pauly, Rini; Diaz-Perez, Zoraida; Malicdan, May; Wang, Hongbo; Boccuto, Luigi; Schwartz, Charles; Gahl, William; Boerkoel, Cornelius; Zhai, R. Grace
Journal:
Nature communications
Issue:
Volume 8:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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