Heather C Mefford
University of Washington
H-index: 76
North America-United States
Top articles of Heather C Mefford
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability | Proceedings of the National Academy of Sciences | Debdeep Dutta Oguz Kanca Rishi V Shridharan Paul C Marcogliese Benjamin Steger | 2024/2/27 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies | bioRxiv | Helen Chen Yong-Dong Wang Aidan W Blan Edith P Almanza-Fuerte Emily S Bonkowski | 2024 |
The role of copy number variants in the genetic architecture of common familial epilepsies | Epilepsia | Epi4K Consortium Edith P Almanza Fuerte John Nguyen Michelle Mehaffey Arvis Sulovari | 2024/3 |
P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants | Genetics in Medicine Open | Jennifer Cech Danny Miller Cate Paschal Bri Dingmann Anna Scott | 2023/1/1 |
ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy | Charissa Millevert Sarah Weckhuysen Ilae Genetics Commission Piero Perucca J Helen Cross | 2023/8 | |
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk | Epilepsia | Karen L Oliver Marina Trivisano Simone A Mandelstam Angela De Dominicis David I Francis | 2023/5 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | Genetics in medicine | Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G Kranz Neal Sondheimer | 2023/9/1 |
Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia | Blood | Francesco Saettini Fabiola Guerra Mario Mauri Grazia Fazio Cristina Bugarin | 2023/12/1 |
The evolving genetic landscape of febrile seizures and GEFS+ | Edith Almanza Fuerte Heather C Mefford | 2023/1/1 | |
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features | Genetics in Medicine | Jonathan C Andrews Jung-Wan Mok Oguz Kanca Sharayu Jangam Cynthia Tifft | 2023/6/1 |
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network | Genetics in Medicine | Rebecca C Spillmann Queenie K-G Tan Chloe Reuter Kelly Schoch Undiagnosed Diseases Network | 2023/4/1 |
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals | Genetics in Medicine | Elisabeth Bosch Bernt Popp Esther Güse Cindy Skinner Pleuntje J van der Sluijs | 2023/11/1 |
Highlights From the Annual Meeting of the American Epilepsy Society 2022 | Ignacio Valencia Allyson L Alexander Danielle M Andrade Miguel Arevalo-Astrada Clio Rubiños | 2023/8/16 | |
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome | Annals of Clinical and Translational Neurology | Jonai Pujol‐Giménez Ghayda Mirzaa Elizabeth E Blue Giuseppe Albano Danny E Miller | 2023/6 |
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature | medRxiv | Christy W LaFlamme Cassandra Rastin Soham Sengupta Helen E Pennington Sophie J Russ-Hall | 2023/10/13 |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica H Wojcik Chloe M Reuter Shruti Marwaha Medhat Mahmoud Michael H Duyzend | 2023/8/3 | |
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy | medRxiv | Maimuna S Paul Sydney L Michener Hongling Pan Jessica M Pfliger Jill A Rosenfeld | 2023/3/29 |
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy | bioRxiv | Hannah C Happ Patricia N Schneider Jung Hwa Hong Eleanor Goes Masha Bandouil | 2023 |
