Christina Lam

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Epigenetic promoter silencing in <scp>F</scp>riedreich ataxia is dependent on repeat length

Yogesh K. Chutake, Christina Lam, Whitney N. Costello et al. · Annals of Neurology · 2014 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

Layne N. Rodden, Yogesh K. Chutake, Kaitlyn M. Gilliam et al. · Human Molecular Genetics · 2020 · 48 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia

Yogesh K. Chutake, Whitney N. Costello, Christina Lam et al. · Journal of Biological Chemistry · 2014 · 41 citations · Full text

Life Sciences, Genetics, Molecular Biology +17