Search Results - Suma Shankar

  • Showing 1 - 6 results of 6
Refine Results
  1. 1

    P384: A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings by Miriam Sarkisian, Suma Shankar, Kristin Herman

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  2. 2

    P668: Automated identification and indexing of genes and variants using bidirectional encoder representation from transformers by Jayneel Vora, Suma Shankar, Leonard Abbeduto, Abigail Higareda

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  3. 3

    P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma by Alena Egense, Timothy Do, Kristin Herman, James Brandt, Suma Shankar

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  4. 4

    P358: Multimodal analysis of language regression using genome sequencing, neuroimaging and neurophysiologic findings in a cohort of minimal-to-nonverbal autistic children by Suma Shankar, Charles Sadle, Ellen Osborne, Aditya Krishnan, Karol Cichewicz, Xinzhou Wang, Celia Chang, Prabhu Shankar, John McPherson

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  5. 5

    P302: Clinical genome sequencing and targeted mouse modeling in nonverbal or minimally verbal individuals with autism spectrum disorders and neurodevelopmental delays by Suma Shankar, Kristin Grimsrud, Van Ma, Prabhu Shankar, Ellen Osborne, Leigh Ann Higa, Ishaan Iyer, Kent Lloyd, Katherine Rauen

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  6. 6

    Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. by David G Warnock, Daniel G Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Mathews Adera, Sheela Sitaraman, Richie Khanna, John J Flanagan, Brandon A Wustman, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, David J Lockhart, Pol Boudes, Franklin K Johnson

    Published in PLoS ONE (2015-01-01)
    Get full text
    Article


Search Tools: