Sangmoon Lee

Affiliations: 
University of California, San Diego, La Jolla, CA 
Area:
Neurodevelopmental disease
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"Sangmoon Lee"

Parents

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Murim Choi grad student 2013-2018 Seoul National University (Neurotree)
Joseph G. Gleeson post-doc 2018- (Neurotree)
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Publications

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Yoo Y, Park SY, Jo EB, et al. (2021) Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers. 13
Lee S, Shin CH, Lee J, et al. (2021) Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood
Kour S, Rajan DS, Fortuna TR, et al. (2021) Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558
Lee Y, Park S, Lee JS, et al. (2020) Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Scientific Reports. 10: 1413
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, et al. (2019) Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. American Journal of Human Genetics
Snijders Blok L, Rousseau J, Twist J, et al. (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 2079
Blok LS, Rousseau J, Twist J, et al. (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 883
Snijders Blok L, Rousseau J, Twist J, et al. (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619
Hong CR, Lee S, Hong KT, et al. (2018) Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome. The Journal of Allergy and Clinical Immunology. in Practice
Yoo D, Kim HJ, Lee JS, et al. (2018) Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. Parkinsonism & Related Disorders
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