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Lacey Smith

Showing results (11-20 of 35) with videos related to

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Genome Biology|July 7, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genesTobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, et al.
JAMA Neurology|October 21, 2024
Genome Sequencing After Exome Sequencing in Pediatric EpilepsyAlissa M D'Gama, Wanqing Shao, Lacey Smith, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric EpilepsyAlissa M D'Gama, Wanqing Shao, Lacey Smith, et al.
The American Journal of the Medical Sciences|November 18, 2008
Elevated serum cobalamin in patients with decompensated biventricular failureHaris Zafarullah, Atta U Shahbaz, Ragheed Alturkmani, et al.
Epilepsia|January 21, 2020
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohortAnne Rochtus, Heather E Olson, Lacey Smith, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Pediatric Neurology|November 20, 2022
Genetic Diagnosis Impacts Medical Management for Pediatric EpilepsiesIsabel Haviland, Carolyn I Daniels, Caitlin A Greene, et al.
Annals of Neurology|December 16, 2020
Characterization of the GABRB2-Associated Neurodevelopmental DisordersChristelle M El Achkar, Merle Harrer, Lacey Smith, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Genome Biology|July 7, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genesTobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, et al.
JAMA Neurology|October 21, 2024
Genome Sequencing After Exome Sequencing in Pediatric EpilepsyAlissa M D'Gama, Wanqing Shao, Lacey Smith, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric EpilepsyAlissa M D'Gama, Wanqing Shao, Lacey Smith, et al.
The American Journal of the Medical Sciences|November 18, 2008
Elevated serum cobalamin in patients with decompensated biventricular failureHaris Zafarullah, Atta U Shahbaz, Ragheed Alturkmani, et al.
Epilepsia|January 21, 2020
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohortAnne Rochtus, Heather E Olson, Lacey Smith, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
Pediatric Neurology|November 20, 2022
Genetic Diagnosis Impacts Medical Management for Pediatric EpilepsiesIsabel Haviland, Carolyn I Daniels, Caitlin A Greene, et al.
Annals of Neurology|December 16, 2020
Characterization of the GABRB2-Associated Neurodevelopmental DisordersChristelle M El Achkar, Merle Harrer, Lacey Smith, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
Pageof 4