Helbig Katherine L - Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia

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论文共 123 篇作者统计合作学者相似作者

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Assessing the Clinical and Treatment Landscape of Genetic Epilepsies Through 3,760 Individuals (S24.007)

Julie Xian,Michael Kaufman,Sarah Ruggiero,Mark Ramos,Alexander Gonzalez, Amanda Back, Lea Bailey-medley,Stacey Cohen,Vishnu Cuddapah,Colin Ellis, Natalie Ginn,Naomi Lewin,

Neurologyno. 17_supplement_1 (2024)

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Clinical Features and Genotype-Phenotype Correlations in Epilepsy Patients with De Novo DYNC1H1 Variants

Claudia Cuccurullo,Emanuele Cerulli Irelli,Lorenzo Ugga,Antonella Riva,Alessandra D'Amico,Sara Cabet,Gaetan Lesca,Leonilda Bilo,Federico Zara,Catrinel Iliescu, Diana Barca,France Fung,

Epilepsia（2024）

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Diagnostic Yield of Genetic Testing in Adults with Epilepsy (P7-1.010)

Juliette Copeland,Aaron Baldwin,Anna Raper,Katherine Helbig,Katie Rose Sullivan, Natalie Ginn,Sarah Ruggiero,Laina Lusk,Stacey Cohen, Amanda Back,Mark Fitzgerald,Shavonne Massey,

Neurology（2024）

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Expanding Genetic Counselor Roles: A Model for Global Research Development

Colleen C. Muraresku,Elizabeth M. Mccormick, Lydia Rockart,T. Blaine Crowley,Stephanie Asher, Amanda Back,Sarah M. Baldino,Emma Bedoukian,Allison D. Britt,Natalie Burrill,Cara Cacioppo,Dana Farengo Clark,

GENESno. 7 (2024)

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Molecular and Phenotypic Characterization of the RORB-Related Disorder

Zeynep Gokce-Samar,Annalisa Vetro,Julitta De Bellescize,Tiziana Pisano,Laloe Monteiro, Noemie Penaud,Christian M. Korff,Joel Fluss,Carla Marini,Elisabetta Cesaroni,Blanca Mercedes Alvarez,Damien Sanlaville,

Neurology（2023）

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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders (vol 143, pg 3564, 2020)

Fanny Mochel, AgnSs Rastetter,Berten Ceulemans,Konrad Platzer,Sandra Yang,Deepali N. Shinde,Katherine L. Helbig,Diego Lopergolo,Francesca Mari,Alessandra Renieri,Elisa Benetti,Roberto Canitano,

BRAINno. 5 (2023): E33-E33

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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Carlos G. Vanoye,Reshma R. Desai,Zhigang Ji,Sneha Adusumilli,Nirvani Jairam,Nora Ghabra,Nishtha Joshi,Eryn Fitch,Katherine L. Helbig,Dianalee McKnight,Amanda S. Lindy,Fanggeng Zou,

JCI INSIGHTno. 5 (2022)

引用21浏览0WOS引用

Demonstrating the value of genome sequencing in a pediatric neurology cohort: A successful partnership between a patient organization and industry

Holly Snyder,Lisa Salz,Julie Cohen,Inna Hughes,Kristen Park,Katherine Helbig,Monica Koehn,Anup Patel,Annapurna Poduri,Sarah Schmidt

Genetics in Medicine（2022）

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Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

Jennifer M. Bain,LeeAnne Green Snyder,Katherine L. Helbig, Dominique D. Cooper,Wendy K. Chung,Kimberly Goodspeed

J Neurodevelop Disord（2022）

引用3浏览0WOS引用

Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies

Stacey R. Cohen,Ingo Helbig,Michael C. Kaufman, Leah Schust Myers,Laura Conway,Katherine L. Helbig

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY（2022）

引用10浏览0WOS引用

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