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Proceedings of the National Academy of Sciences of the United States of America
|
January 20, 2023
TMEM161B modulates radial glial scaffolding in neocortical development
Lu Wang, Caleb Heffner, Keng Ioi Vong, et al.
Scientific Reports
|
January 31, 2020
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
Youngha Lee, Soojin Park, Jin Sook Lee, et al.
American Journal of Human Genetics
|
October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Sangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Cancer Research and Treatment
|
September 20, 2024
Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon Lee, Jin Roh, Jun Sung Park, et al.
Blood
|
June 11, 2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
American Journal of Human Genetics
|
October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Sarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
Neuron
|
November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Guoliang Chai, Alice Webb, Chen Li, et al.
Nature
|
December 3, 2025
Whole-genome landscapes of 1,364 breast cancers
Ryul Kim, Jonghan Yu, Joonoh Lim, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
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Search research articles
Search
Showing results (41-50 of 56) with videos related to
Sort By:
Page
of 6
Proceedings of the National Academy of Sciences of the United States of America
|
January 20, 2023
TMEM161B modulates radial glial scaffolding in neocortical development
Lu Wang, Caleb Heffner, Keng Ioi Vong, et al.
Scientific Reports
|
January 31, 2020
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
Youngha Lee, Soojin Park, Jin Sook Lee, et al.
American Journal of Human Genetics
|
October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Sangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Cancer Research and Treatment
|
September 20, 2024
Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon Lee, Jin Roh, Jun Sung Park, et al.
Blood
|
June 11, 2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
American Journal of Human Genetics
|
October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Sarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
Neuron
|
November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Guoliang Chai, Alice Webb, Chen Li, et al.
Nature
|
December 3, 2025
Whole-genome landscapes of 1,364 breast cancers
Ryul Kim, Jonghan Yu, Joonoh Lim, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Page
of 6