Publications by authors named "Heather Mefford"

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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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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Heather C Mefford

Nat Genet· November 2025

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Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, Amy L Schneider, Sian M W Macdonald, Heather C Mefford

Ann Neurol· November 2025

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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Sarah M Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A Kamel, Heather C Mefford

Ann Neurol· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Heather C Mefford

medRxiv· September 2025

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The Association Between Sleep Phenotypes and Epilepsy Genes.
Jonathan Read Gaillard, Gita Gupta, Heather C Mefford, Louise M O'Brien, Renée A Shellhaas

Neurol Genet· August 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, Heather C Mefford

Sci Transl Med· May 2025

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Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.
Beth L Woodward, Sudipta Lahiri, Anoop S Chauhan, Marcos Rios Garcia, Lucy E Goodley, Heather C Mefford

Nat Commun· May 2025

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SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
Christy W LaFlamme, Karim Karimi, Cassandra Rastin, Edith P Almanza Fuerte, Talia Allan, Heather C Mefford

Epilepsia· April 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, Heather Mefford

medRxiv· April 2025

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Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Shiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, Peter D Galer, David Lewis-Smith, Heather C Mefford

bioRxiv· March 2025

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A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.
Nitish Chourasia, Rohan Vaidya, Soham Sengupta, Heather C Mefford, James Wheless

Pediatr Neurol· December 2024

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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Heather C Mefford

Ann Neurol· November 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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Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.
Colin A Ellis, Karen L Oliver, Rebekah V Harris, Ruth Ottman, Ingrid E Scheffer, Heather C Mefford

Am J Hum Genet· September 2024

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Developmental and epileptic encephalopathies.
Ingrid E Scheffer, Sameer Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague

Nat Rev Dis Primers· September 2024

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Author Correction: Developmental and epileptic encephalopathies.
Ingrid E Scheffer, Sameer Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague

Nat Rev Dis Primers· September 2024

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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Francesco Saettini, Fabiola Guerra, Mario Mauri, Claire G Salter, Margaret P Adam, Heather C Mefford

J Clin Immunol· September 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, Heather C Mefford

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, Heather C Mefford

Genet Med Open· August 2024

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Familial aggregation of seizure outcomes in four familial epilepsy cohorts.
Colin A Ellis, Danni Tu, Karen L Oliver, Heather C Mefford, W Allen Hauser

Epilepsia· July 2024

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Koolen-de Vries Syndrome: a journey from diagnosis to treatments.
Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake, David A Koolen, Heather C Mefford

Ther Adv Rare Dis· July 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Heather Mefford

Am J Hum Genet· June 2024

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