Результаты поиска - Suma Shankar

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

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

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

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

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

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Finding buried genetic test results in the electronic health record is inefficient and variable across institutions по Olivia J. Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Maria Niarchou, Megan Clarke, Prabhu Shankar, Suma Shankar, Julie S. Cohen, Kendell German, Seth Berger, Angela Sellitto, Inez Y. Oh, Rashi Raizada, Piotr Sliz, Selvin Soby, Mihailo Kaplarevic, Dan Doherty, Andrea Gropman, Constance Smith-Hicks, Jeffrey L. Neul, Virginia Lanzotti, Benjamin Darbro, Qiang Chang, Mustafa Sahin, Maya Chopra

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