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Heather C Mefford

Showing results (131-140 of 222) with videos related to

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Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.
American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesJacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.
Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Plos One|December 7, 2013
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersLily Paemka, Vinit B Mahajan, Jessica M Skeie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Pageof 23

Showing results (131-140 of 222) with videos related to

Sort By:
Pageof 23
Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.
American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesJacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.
Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Plos One|December 7, 2013
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersLily Paemka, Vinit B Mahajan, Jessica M Skeie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Pageof 23