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Katherine B Howell

Showing results (51-60 of 65) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Neurology|July 22, 2025
Development and Adaptive Function in Individuals With <i>SCN2A</i>-Related DisordersBeatrice Southby Goad, Jill Rodda, Meagan Allen, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 7

Showing results (51-60 of 65) with videos related to

Sort By:
Pageof 7
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Neurology|July 22, 2025
Development and Adaptive Function in Individuals With <i>SCN2A</i>-Related DisordersBeatrice Southby Goad, Jill Rodda, Meagan Allen, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 7