Publications by authors named "Emily Bonkowski"

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Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.
JuleLayne Curry, Emily Bonkowski, Heather Mefford, James Wheless, Nitish Chourasia

Seizure· December 2025

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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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Parents' Experiences With and Preferences for Receiving Information About Tumor Genomic Sequencing: Findings From a Qualitative Study and Implications for Practice.
Brittany L Greene, Krysta S Barton, Emily Bonkowski, Shannon M Stasi, Natalie Waligorski

JCO Precis Oncol· December 2024

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A roadmap to cure CHD2-related disorders.
Stephanie Prince, Emily Bonkowski, Christopher McGraw, Christina SanInocencio, Heather C Mefford

Ther Adv Rare Dis· October 2024

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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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The Other Side of the Self-Advocacy Coin: How For-Profit Companies Can Divert the Path to Justice in Rare Disease.
Emily Bonkowski, Hadley Stevens Smith

Am J Bioeth· July 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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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Dong-Hui Chen, Jennifer E Below, Akiko Shimamura, Sioban B Keel, Mark Matsushita, Emily Bonkowski

Am J Hum Genet· June 2016

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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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Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Dong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, Heather C Mefford, Marie Davis, Emily Bonkowski

Hum Mutat· December 2013

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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Olena Korvatska, Nicholas S Strand, Jason D Berndt, Tim Strovas, Dong-Hui Chen, Emily Bonkowski

Hum Mol Genet· August 2013

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