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Sangmoon Lee - Publications

Affiliations: 
University of California, San Diego, La Jolla, CA 
Area:
Neurodevelopmental disease
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31 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American Journal of Medical Genetics. Part A. PMID 37596828 DOI: 10.1002/ajmg.a.63363  0.579
2023 Wang L, Heffner C, Vong KL, Barrows C, Ha YJ, Lee S, Lara-Gonzalez P, Jhamb I, Van Der Meer D, Loughnan R, Parker N, Sievert D, Mittal S, Issa MY, Andreassen OA, et al. TMEM161B modulates radial glial scaffolding in neocortical development. Proceedings of the National Academy of Sciences of the United States of America. 120: e2209983120. PMID 36669109 DOI: 10.1073/pnas.2209983120  0.735
2022 Park S, Lee H, Lee J, Lee S, Cho S, Huh H, Kim JY, Park M, Lee S, Kim Y, Choi M, Joo KW, Kim YS, Yang SH, Kim DK. RNA-seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti-phosphatase 1 in glomerulonephritis. Journal of Cellular and Molecular Medicine. PMID 35488446 DOI: 10.1111/jcmm.17340  0.43
2022 Kumar R, Corbett MA, Smith NJC, Hock DH, Kikhtyak Z, Semcesen LN, Morimoto A, Lee S, Stroud DA, Gleeson JG, Haan EA, Gecz J. Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. Npj Genomic Medicine. 7: 9. PMID 35091571 DOI: 10.1038/s41525-021-00277-7  0.514
2021 Wang L, Sievert D, Clark AE, Lee S, Federman H, Gastfriend BD, Shusta EV, Palecek SP, Carlin AF, Gleeson JG. A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology. Nature Medicine. PMID 34244682 DOI: 10.1038/s41591-021-01443-1  0.451
2021 Yoo Y, Park SY, Jo EB, Choi M, Lee KW, Hong D, Lee S, Lee CR, Lee Y, Um JY, Park JB, Seo SW, Choi YL, Kim S, Lee SG, et al. Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers. 13. PMID 34206586 DOI: 10.3390/cancers13133122  0.722
2021 Lee S, Shin CH, Lee J, Jeong SD, Hong CR, Kim JD, Kim AR, Pak B, Son S, Kokhan O, Yoo T, Ko JS, Sohn YB, Kim OH, Ko JM, et al. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood. PMID 34115847 DOI: 10.1182/blood.2021010913  0.538
2021 Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558. PMID 33963192 DOI: 10.1038/s41467-021-22627-w  0.765
2020 Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. PMID 33220177 DOI: 10.1016/j.neuron.2020.10.035  0.734
2020 Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, et al. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33188300 DOI: 10.1038/s41436-020-01010-y  0.68
2020 Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Bi-allelic variants cause delayed developmental milestones and intellectual disability. Journal of Medical Genetics. PMID 32439809 DOI: 10.1136/Jmedgenet-2020-106849  0.728
2020 Lee S, Gleeson JG. Closing in on Mechanisms of Open Neural Tube Defects. Trends in Neurosciences. PMID 32423763 DOI: 10.1016/J.Tins.2020.04.009  0.457
2020 Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, et al. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Scientific Reports. 10: 1413. PMID 31996704 DOI: 10.1038/S41598-020-58101-8  0.766
2019 Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, et al. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. American Journal of Human Genetics. PMID 31587868 DOI: 10.1016/J.Ajhg.2019.09.009  0.574
2019 Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853. PMID 31585108 DOI: 10.1016/J.Ajhg.2019.08.013  0.553
2019 Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Lee S, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 2079. PMID 31048695 DOI: 10.1038/s41467-019-10161-9  0.451
2019 Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Lee S, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 883. PMID 30770872 DOI: 10.1038/S41467-019-08800-2  0.5
2018 Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Lee S, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6  0.597
2018 Hong CR, Lee S, Hong KT, Choi JY, Shin HY, Choi M, Kang HJ. Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome. The Journal of Allergy and Clinical Immunology. in Practice. PMID 29890288 DOI: 10.1016/J.Jaip.2018.05.029  0.431
2018 Yoo D, Kim HJ, Lee JS, Lee S, Kim SY, Choi M, Chae JH, Jeon B. Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. Parkinsonism & Related Disorders. PMID 29449182 DOI: 10.1016/J.Parkreldis.2018.02.012  0.539
2018 Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. Brain & Development. PMID 29439846 DOI: 10.1016/J.Braindev.2018.01.009  0.571
2018 Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. Brain & Development. PMID 29428275 DOI: 10.1016/J.Braindev.2018.01.006  0.574
2017 Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. Experimental & Molecular Medicine. 49: e414. PMID 29244787 DOI: 10.1038/Emm.2017.227  0.593
2017 Lee S, Seo J, Park J, Nam JY, Choi A, Ignatius JS, Bjornson RD, Chae JH, Jang IJ, Lee S, Park WY, Baek D, Choi M. Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. Scientific Reports. 7: 4287. PMID 28655895 DOI: 10.1038/S41598-017-04642-4  0.535
2016 Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. eIF2B-related multisystem disorder in two sisters with atypical presentations. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 28041799 DOI: 10.1016/J.Ejpn.2016.07.010  0.486
2016 Lee S, Choi M. Ultra-rare Disease and Genomics-Driven Precision Medicine. Genomics & Informatics. 14: 42-5. PMID 27445646 DOI: 10.5808/Gi.2016.14.2.42  0.499
2016 Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH. Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. American Journal of Medical Genetics. Part A. PMID 27411168 DOI: 10.1002/Ajmg.A.37846  0.573
2016 Han SS, Yang SH, Choi M, Kim HR, Kim K, Lee S, Moon KC, Kim JY, Lee H, Lee JP, Jung JY, Kim S, Joo KW, Lim CS, Kang SW, et al. The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy. Journal of the American Society of Nephrology : Jasn. PMID 27068226 DOI: 10.1681/Asn.2015060677  0.51
2015 Lee S, Moon JS, Lee CR, Kim HE, Baek SM, Hwang S, Kang GH, Seo JK, Shin CH, Kang HJ, Ko JS, Park SG, Choi M. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. The Journal of Allergy and Clinical Immunology. PMID 26478010 DOI: 10.1016/J.Jaci.2015.08.036  0.507
2015 Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. Gene. PMID 25936994 DOI: 10.1016/J.Gene.2015.04.075  0.595
2012 Lee S, Kim N, Khwarg SI, Choung HK, Lee MJ. Congenital lacrimal fistula associated with Down syndrome. Graefe's Archive For Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv FüR Klinische Und Experimentelle Ophthalmologie. 250: 1515-9. PMID 22706405 DOI: 10.1007/S00417-012-2081-X  0.337
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