Publications by authors named "Emily S Bonkowski"

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Patient-derived models of associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.
Helen Chen, Christy W LaFlamme, Yong-Dong Wang, Aidan W Blan, Nikki Koehler, Emily S Bonkowski

Sci Transl Med· May 2025

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Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United States.
Katherine E Bonini, Hadley Stevens Smith, Emily S Bonkowski, Benjamin E Berkman, Leila Jamal

Public Health Genomics· January 2025

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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Emily S Bonkowski

Nat Commun· August 2024

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Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Jonathan Marquez, Jennifer N Cech, Cate R Paschal, Bri Dingmann, Anna I Scott, Emily S Bonkowski

Genet Med Open· August 2024

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Patient derived model of -associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies.
Helen Chen, Yong-Dong Wang, Aidan W Blan, Edith P Almanza-Fuerte, Emily S Bonkowski

bioRxiv· January 2024

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Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical Issues.
Hadley Stevens Smith, Emily S Bonkowski, Madison R Hickingbotham, Stacey Pereira, Thomas May

J Pediatr· November 2023

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Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Emily S Bonkowski

medRxiv· October 2023

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Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research.
Hadley Stevens Smith, Emily S Bonkowski, Raymond Belanger Deloge, Amanda M Gutierrez, Alva M Recinos

Eur J Hum Genet· April 2023

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Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.
Hadley Stevens Smith, Emily S Bonkowski, Madison R Hickingbotham, Raymond Belanger Deloge, Stacey Pereira

Children (Basel)· April 2023

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O Johnson, Ruth Chia, Danny E Miller, Rachel Li, Ravindran Kumaran, Emily S Bonkowski

JAMA Neurol· October 2021

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Targeted long-read sequencing identifies missing disease-causing variation.
Danny E Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Emily S Bonkowski

Am J Hum Genet· August 2021

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ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Emily S Bonkowski

Neurology· December 2015

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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ying-Zhang Chen, Jennifer R Friedman, Dong-Hui Chen, Guy C-K Chan, Cinnamon S Bloss, Emily S Bonkowski

Ann Neurol· April 2014

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