Heather Mefford, M.D., Ph.D.
Affiliations: | Genome Sciences | University of Washington, Seattle, Seattle, WA |
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| Chen H, LaFlamme CW, Wang YD, et al. (2025) Patient-derived models of associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues. Science Translational Medicine. 17: eadn8417 |
| Anderson EN, Drukewitz S, Kour S, et al. (2025) De novo variants in cause a syndromic neurodevelopmental disorder. Medrxiv : the Preprint Server For Health Sciences |
| Ganesan S, Ruggiero SM, Parthasarathy S, et al. (2025) Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders. Biorxiv : the Preprint Server For Biology |
| LaFlamme CW, Karimi K, Rastin C, et al. (2025) SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature. Epilepsia |
| Prince S, Bonkowski E, McGraw C, et al. (2024) A roadmap to cure CHD2-related disorders. Therapeutic Advances in Rare Disease. 5: 26330040241283749 |
| Scheffer IE, Zuberi S, Mefford HC, et al. (2024) Developmental and epileptic encephalopathies. Nature Reviews. Disease Primers. 10: 61 |
| Paul MS, Michener SL, Pan H, et al. (2024) A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics |
| Paul MS, Michener SL, Pan H, et al. (2024) A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics |
| Chen H, Wang YD, Blan AW, et al. (2024) Patient derived model of -associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies. Biorxiv : the Preprint Server For Biology |
| Paul MS, Michener SL, Pan H, et al. (2024) A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. 111: 96-118 |