Christina L Grant - Childrens Natl Hosp, Rare Dis Inst

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论文共 16 篇作者统计合作学者相似作者

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Thiamine responsive MSUD due to splice altering variants: Confounding the genotype phenotype correlation

Charles Billington,Erin MacLeod, Jenny Jacobson,Kara Simpson,Nicholas Ah. Mew,Christina Grant,Seth Berger

Molecular Genetics and Metabolismno. 4 (2024): 108183

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P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness

Kimberly Chapman, Spencer Vause,Seth Berger, Deepika Burkardt,Jamie Fraser,Christina Grant, KeriAnn Kuperman, Amy Lewanda, Darilyn Mahoney, Gabrielle Pomorski, Louise Pyle, Kenneth Rosenbaum,

Genetics in Medicine Open (2024): 101081

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The clinical challenge of new variants encountered in newborn screening: The example of ASN290ASP in GAA

Silvia Tortorelli, Wendy Smith,Nishitha Pillai,Christina Lee Grant, KeriAnn Kuperman, Noelle Fabie, Erica Wright, Katie Sapp,Craig Baker, Alyssa Keller,Dawn Peck

Molecular Genetics and Metabolismno. 4 (2024): 108299

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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen,Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker,Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza,

medRxiv : the preprint server for health sciences (2024)

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Death associated with brain herniation in classical MSUD patients from underrepresented populations