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Helbig, Katherine L.
241  results:
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1

Clinical features and genotype–phenotype correlations in ep..:

Cuccurullo, Claudia ; Cerulli Irelli, Emanuele ; Ugga, Lorenzo...
Epilepsia.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Molecular and Phenotypic Characterization of theRORB-Relate..:

Gokce-Samar, Zeynep ; Vetro, Annalisa ; De Bellescize, Julitta...
Neurology.  102 (2024)  2 - p. , 2024
Link: https://doi.org/10.1212/..
 
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3

Expanding Genetic Counselor Roles: A Model for Global Resea..:

Muraresku, Colleen C. ; McCormick, Elizabeth M. ; Rockart, Lydia...
Genes.  15 (2024)  7 - p. 867 , 2024
Link: https://doi.org/10.3390/..
 
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4

High-throughput evaluation of epilepsy-associated KCNQ2 var..:

Vanoye, Carlos G. ; Desai, Reshma R. ; Ji, Zhigang...
JCI Insight.  7 (2022)  5 - p. , 2022
Link: https://doi.org/10.1172/..
 
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5

OP020: Demonstrating the value of genome sequencing in a pe..:

Snyder, Holly ; Salz, Lisa ; Cohen, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S351-S352 , 2022
Link: https://doi.org/10.1016/..
 
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6

Caregiver assessment of quality of life in individuals with..:

Cohen, Stacey R. ; Helbig, Ingo ; Kaufman, Michael C....
Developmental Medicine & Child Neurology.  64 (2022)  8 - p. 957-964 , 2022
Link: https://doi.org/10.1111/..
 
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7

Consistency of parent-report SLC6A1 data in Simons Searchli..:

Bain, Jennifer M. ; Snyder, LeeAnne Green ; Helbig, Katherine L....
Journal of Neurodevelopmental Disorders.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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8

Phenotypic homogeneity in childhood epilepsies evolves in g..:

Lewis-Smith, David ; Ganesan, Shiva ; Galer, Peter D....
European Journal of Human Genetics.  29 (2021)  11 - p. 1690-1700 , 2021
Link: https://doi.org/10.1038/..
 
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9

Computational analysis of 10,860 phenotypic annotations in ..:

Crawford, Katherine ; Xian, Julie ; Helbig, Katherine L....
Genetics in Medicine.  23 (2021)  7 - p. 1263-1272 , 2021
Link: https://doi.org/10.1038/..
 
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10

Assessing the landscape of STXBP1-related disorders in 534 ..:

Xian, Julie ; Parthasarathy, Shridhar ; Ruggiero, Sarah M...
Brain.  145 (2021)  5 - p. 1668-1683 , 2021
Link: https://doi.org/10.1093/..
 
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11

ATP1A2- and ATP1A3-associated early profound epileptic ence..:

Vetro, Annalisa ; Nielsen, Hang N ; Holm, Rikke...
Brain.  144 (2021)  5 - p. 1435-1450 , 2021
Link: https://doi.org/10.1093/..
 
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12

Association ofSLC32A1Missense Variants With Genetic Epileps..:

Heron, Sarah E. ; Regan, Brigid M. ; Harris, Rebekah V....
Neurology.  96 (2021)  18 - p. , 2021
Link: https://doi.org/10.1212/..
 
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13

Correction: A longitudinal footprint of genetic epilepsies ..:

Ganesan, Shiva ; Galer, Peter D. ; Helbig, Katherine L....
Genetics in Medicine.  22 (2020)  11 - p. 1921-1922 , 2020
Link: https://doi.org/10.1038/..
 
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14

Variants in the SK2 channel gene (KCNN2) lead to dominant n..:

Mochel, Fanny ; Rastetter, Agnès ; Ceulemans, Berten...
Brain.  143 (2020)  12 - p. 3564-3573 , 2020
Link: https://doi.org/10.1093/..
 
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15

Semantic Similarity Analysis Reveals Robust Gene-Disease Re..:

Galer, Peter D. ; Ganesan, Shiva ; Lewis-Smith, David...
The American Journal of Human Genetics.  107 (2020)  4 - p. 683-697 , 2020
Link: https://doi.org/10.1016/..
 
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