Publications by authors named "Suma Shankar"

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Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Prabhu Shankar, Suma Shankar

Ther Adv Rare Dis· July 2025

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Genotype Prediction from Retinal Fundus Images Using Deep Learning in Eyes with Age-Related Macular Degeneration.
Avishai Halev, Denis Huang, Shahbaz Rezaei, Sean Banks, John D McPherson, Suma P Shankar

Ophthalmol Sci· May 2025

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De novo variants in cause a syndromic neurodevelopmental disorder.
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V Chimata, Deepa S Rajan, Suma P Shankar

medRxiv· April 2025

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Glaucoma Following Cataract Surgery in Children-Finally, a Clue.
James D Brandt, Suma P Shankar

JAMA Ophthalmol· September 2023

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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Suma Shankar

Am J Med Genet A· April 2023

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Prader-Willi and Angelman Syndromes: Mechanisms and Management.
Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense, Suma P Shankar

Appl Clin Genet· April 2023

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Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.
Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Suma P Shankar

Mol Genet Genomic Med· October 2022

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Prabhu R Shankar

Genet Med· October 2022

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Retinal dystrophies: A look beyond the eyes.
Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P Shankar

Am J Ophthalmol Case Rep· September 2022

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Prabhu R Shankar

Genet Med· July 2022

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Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome.
Nattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, Suma P Shankar, Randi Hagerman

BMJ Case Rep· July 2022

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The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Suma P Shankar

Am J Med Genet A· June 2022

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Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
Suma P Shankar, Reshmitha Fallurin, Tonya Watson, Prabhu R Shankar, Terri L Young

Ophthalmic Genet· February 2022

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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Victor Kovac, Elsa G Shapiro, Kyle D Rudser, Bryon A Mueller, Julie B Eisengart, Suma P Shankar

Mol Genet Metab· February 2022

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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Jacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, Ebba Alkhunaizi, Tracy Brandt, Suma P Shankar

Pediatr Neurol· January 2022

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Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rong Mao, Patti Krautscheid, Rondell P Graham, Arupa Ganguly, Suma Shankar

Genet Med· October 2021

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Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P Shankar, Hagit Baris Feldman

Am J Hematol· September 2021

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Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.
Elyse M Salpeter, Brian C Leonard, Antonio J Lopez, Christopher J Murphy, Sara Thomasy, Suma P Shankar

Ann Transl Med· August 2021

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Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Suma P Shankar

Am J Hum Genet· July 2021

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Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
Ulla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, Suma Shankar, Khan Nedd

Mol Genet Metab· June 2021

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The evolving role of genetics in ophthalmology.
Natario L Couser, Brian P Brooks, Arlene V Drack, Suma P Shankar

Ophthalmic Genet· April 2021

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Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Karen W Gripp, Lindsey A Morse, Marni Axelrad, Kathryn C Chatfield, Aaron Chidekel, Suma P Shankar

Am J Med Genet A· September 2019

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Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
Brian P Tullius, Suma P Shankar, Stacey Cole, Vivien Triano, Swaroop Aradhya

Pediatr Blood Cancer· August 2019

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Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.
Mustafa Safi, Salimeh Khazaei Nejad, Mary O'Hara, Suma P Shankar

J Pediatr Ophthalmol Strabismus· July 2019

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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Uma Ramaswami, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Suma P Shankar

Mol Genet Metab· May 2019

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