Sangmoon Lee

Title(s)Postdoctoral Scholar, Neurosciences
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
Emailsal004@ucsd.edu
ORCID ORCID Icon0000-0002-7723-5946 Additional info
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology. Nat Med. 2021 Jul 09. Wang L, Sievert D, Clark AE, Lee S, Federman H, Gastfriend BD, Shusta EV, Palecek SP, Carlin AF, Gleeson JG. PMID: 34244682.
      View in: PubMed   Mentions: 3     Fields:    
    2. Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers (Basel). 2021 Jun 22; 13(13). 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, Choi M. PMID: 34206586.
      View in: PubMed   Mentions:
    3. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood. 2021 Jun 11. 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, Cho TJ, Wright NT, Seong JK, Jin SW, Kang HJ, Kim HH, Choi M. PMID: 34115847.
      View in: PubMed   Mentions:    Fields:    
    4. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 05 07; 12(1):2558. 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, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. PMID: 33963192.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    5. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 01 20; 109(2):241-256.e9. 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, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. PMID: 33220177.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    6. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med. 2021 03; 23(3):524-533. 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, Pan D, Lübbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG. PMID: 33188300.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    7. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. J Med Genet. 2021 04; 58(4):237-246. 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. PMID: 32439809.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. Closing in on Mechanisms of Open Neural Tube Defects. Trends Neurosci. 2020 07; 43(7):519-532. Lee S, Gleeson JG. PMID: 32423763.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    9. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Sci Rep. 2020 Jan 29; 10(1):1413. 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, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. PMID: 31996704.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 2019 11 07; 105(5):987-995. 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, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. PMID: 31587868.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    11. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853. 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, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. PMID: 31585108.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    12. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619. 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, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, DDD study , Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. PMID: 30397230.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    13. Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase d syndrome. J Allergy Clin Immunol Pract. 2019 03; 7(3):1034-1037.e1. Hong CR, Lee S, Hong KT, Choi JY, Shin HY, Choi M, Kang HJ. PMID: 29890288.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    14. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. Brain Dev. 2018 May; 40(5):383-390. Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. PMID: 29439846.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    15. Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. Brain Dev. 2018 May; 40(5):429-432. Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. PMID: 29428275.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    16. Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. Exp Mol Med. 2017 12 15; 49(12):e414. Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. PMID: 29244787.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    17. Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. Sci Rep. 2017 06 27; 7(1):4287. 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. PMID: 28655895.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    18. eIF2B-related multisystem disorder in two sisters with atypical presentations. Eur J Paediatr Neurol. 2017 Mar; 21(2):404-409. Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. PMID: 28041799.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. . 2016 11; 170(11):3023-3027. Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH. PMID: 27411168.
      View in: PubMed   Mentions:
    20. Ultra-rare Disease and Genomics-Driven Precision Medicine. Genomics Inform. 2016 Jun; 14(2):42-5. Lee S, Choi M. PMID: 27445646.
      View in: PubMed   Mentions:
    21. The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy. J Am Soc Nephrol. 2016 Nov; 27(11):3430-3439. 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, Kim YS, Kim DK. PMID: 27068226.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    22. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol. 2016 Jan; 137(1):327-330. 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. PMID: 26478010.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    23. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. Gene. 2015 Sep 15; 569(2):318-22. Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. PMID: 25936994.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    24. Clinical characteristics and treatment outcomes of patients with congenital membranous punctal obstruction. J AAPOS. 2014 Apr; 18(2):159-61. Lee MJ, Jin HC, Lee S, Choi YJ, Kim N, Choung HK, Khwarg SI. PMID: 24698614.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    25. Current smoking is associated with a poor visual acuity improvement after intravitreal ranibizumab therapy in patients with exudative age-related macular degeneration. J Korean Med Sci. 2013 May; 28(5):769-74. Lee S, Song SJ, Yu HG. PMID: 23678271.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    26. Comparative cross-sectional analysis of the effects of topical antiglaucoma drugs on the ocular surface. Adv Ther. 2013 Apr; 30(4):420-9. Lee S, Kim MK, Choi HJ, Wee WR, Kim DM. PMID: 23564224.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    27. Prognostic factors for visual recovery after transsphenoidal pituitary adenectomy. Br J Neurosurg. 2013 Aug; 27(4):425-9. Lee S, Kim SJ, Yu YS, Kim YH, Paek SH, Kim DG, Jung HW. PMID: 23421587.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    28. Congenital lacrimal fistula associated with Down syndrome. Graefes Arch Clin Exp Ophthalmol. 2012 Oct; 250(10):1515-9. Lee S, Kim N, Khwarg SI, Choung HK, Lee MJ. PMID: 22706405.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    29. Distal His----Arg mutation in bovine myoglobin results in a ligand binding site similar to the abnormal beta site of hemoglobin Zurich (beta 63 His----Arg). Biochem Biophys Res Commun. 1989 Jan 16; 158(1):110-4. Shimada H, Dong A, Matsushima-Hibiya Y, Ishimura Y, Caughey WS. PMID: 29449182.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans