CNVs in Epilepsy

por Mefford, Heather C.
Publicado 2014

The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy

por Mefford, Heather C.
Publicado 2019

Phenotype to Genotype and Back Again

por Mefford, Heather C.
Publicado 2020

Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery

por Mefford, Heather C.
Publicado 2020

Mosaicism in clinical genetics

por Mefford, Heather C.
Publicado 2021

Advancing epilepsy genetics in the genomic era

por Myers, Candace T., Mefford, Heather C.
Publicado 2015

Recent advances in epilepsy genomics and genetic testing

por Hebbar, Malavika, Mefford, Heather C.
Publicado 2020

Genetically complex epilepsies, copy number variants and syndrome constellations

por Mefford, Heather C, Mulley, John C
Publicado 2010

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele)

por Doherty, Dan, Tsuchiya, Karen D, Mefford, Heather C, Shurtleff, David B
Publicado 2010

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

por Jeffrey, Jennifer S., Leathem, Janet, King, Chontelle, Mefford, Heather C., Ross, Kirsty, Sadleir, Lynette G.
Publicado 2021

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

por Muhle, Hiltrud, Mefford, Heather C, Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E, Stephani, Ulrich, Sander, Thomas, Helbig, Ingo
Publicado 2011

Double somatic mosaicism in a child with Dravet syndrome

por Muir, Alison M., King, Chontelle, Schneider, Amy L., Buttar, Aman S., Scheffer, Ingrid E., Sadleir, Lynette G., Mefford, Heather C.
Publicado 2019

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

por Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.
Publicado 2017

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

por Traynelis, Stephen F., Dlugos, Dennis, Henshall, David, Mefford, Heather C., Rogawski, Michael A., Staley, Kevin J., Dacks, Penny A., Whittemore, Vicky, Poduri, Annapurna
Publicado 2020

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

por Abrahams, Brett S, Arking, Dan E, Campbell, Daniel B, Mefford, Heather C, Morrow, Eric M, Weiss, Lauren A, Menashe, Idan, Wadkins, Tim, Banerjee-Basu, Sharmila, Packer, Alan
Publicado 2013

Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

por Mefford, Heather C, Shafer, Neil, Antonacci, Francesca, Tsai, Jesse M, Park, Sarah S, Hing, Anne V, Rieder, Mark J, Smyth, Matthew D, Speltz, Matthew L, Eichler, Evan E, Cunningham, Michael L
Publicado 2010

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

por Myers, Kenneth A., Marini, Carla, Carvill, Gemma L., McTague, Amy, Panetta, Julie, Stutterd, Chloe, Stanley, Thorsten, Marin, Samantha, Nguyen, John, Barba, Carmen, Rosati, Anna, Scott, Richard H., Mefford, Heather C., Guerrini, Renzo, Scheffer, Ingrid E.
Publicado 2021

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

por Dashnow, Harriet, Pedersen, Brent S., Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J., Ravenscroft, Gianina, LaCroix, Amy J., Lamont, Phillipa, Roxburgh, Richard H., Rodrigues, Miriam J., Davis, Mark, Mefford, Heather C., Laing, Nigel G., Quinlan, Aaron R.
Publicado 2022

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

por Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E.
Publicado 2017

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

por Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreiber, Stefan, Bassuk, Alexander G., Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E.
Publicado 2010