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Author/Creator Srikanth, Sujata

1. A distinct X‐linked syndrome involving joint contractures, keloids, large optic cup‐to‐disc ratio, and renal stones results from a filamin A (FLNA) mutation. Issue 4 (24th January 2016)

Authors:
Lah, Melissa; Niranjan, Tejasvi; Srikanth, Sujata; Holloway, Lynda; Schwartz, Charles E.; Wang, Tao; Weaver, David D.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 4(2016)
Page Start:
881
Record Type:
Journal Article
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2. 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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3. 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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4. 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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5. 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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6. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. Issue 5 (6th September 2022)

Authors:
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
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 5(2023)
Page Start:
732
Record Type:
Journal Article
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7. Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures. Issue 1 (27th October 2021)

Authors:
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
Journal:
Clinical genetics
Issue:
Volume 101:Issue 1(2022)
Page Start:
87
Record Type:
Journal Article
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