Publications
Papers
2024
Jeong J, Lee J, Lim J, Shin J, Yoo K, Kim J, Tanaka Y, Tae HS, Kim LK, Park IH, Wysolmerski J, Choi J§. FOXA1 is required for ErbB2 expression and luminal differentiation in HER2-positive breast cancer. bioRxiv. 2024 Apr 16. doi: 10.1101/2024.04.16.589460.
Lee S*, Yoon JG*, Hong J*, Kim T, Kim N, Vandrovcova J, Yau WY, Cho J, Kim S, Kim MJ, Kim SY, Lee ST, Chu K, Lee SK, Kim HJ, Genomics England Research Consortium, Choi J§, Moon J§, Chae JH§. Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. Neurol. Genet. 2024. in press.
Bellone S*, Jeong K*, Halle MK, Krakstad C, McNamara B, Greenman M, Mutlu L, Demirkiran C, Hartwich TMP, Yang-Hartwich Y, Zipponi M, Buza N, Hui P, Raspagliesi F, Lopez S, Paolini B, Milione M, Perrone E, Scambia G, Altwerger G, Ravaggi A, Bignotti E, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz PE, Quick CM, Angioli R, Terranova C, Zaidi S, Nandi S, Alexandrov LB, Siegel ER, Choi J§, Schlessinger J§, Santin AD§. Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. Proc Natl Acad Sci U S A. 2024 Apr 23;121(17):e2321898121. doi: 10.1073/pnas.2321898121. Epub 2024 Apr 16. PMID: 38625939.
Stockhammer P, Grant M, Wurtz A, Foggetti G, Expósito F, Gu J, Zhao H, Choi J, Chung S, Li F, Walther Z, Dietz J, Duffield E, Gettinger S, Politi K, Goldberg SB. Co-Occurring Alterations in Multiple Tumor Suppressor Genes Are Associated With Worse Outcomes in Patients With EGFR-Mutant Lung Cancer. J Thorac Oncol. 2024 Feb;19(2):240-251. doi: 10.1016/j.jtho.2023.10.001. Epub 2023 Oct 6. PMID: 37806385.
Hu B, Wiesehöfer M, de Miguel FJ, Liu Z, Chan LH, Choi J, Melnick MA, Arnal-Estape A, Walther Z, Zhao D, Lopez-Giraldez F, Wurtz A, Cai G, Fan R, Gettinger S, Xiao A, Yan Q, Homer R, Nguyen DX, Politi K. ASCL1 Drives Tolerance to Osimertinib in EGFR Mutant Lung Cancer in Permissive Cellular Contexts. Cancer Res. 2024 Feb 15. doi: 10.1158/0008-5472.CAN-23-0438. Epub ahead of print. PMID: 38359163.
Jeong J, Lee J, Talaia G, Kim W, Song J, Hong J, Yoo K, Gonzalez DG, Athonvarangkul D, Shin J, Dann P, Haberman AM, Kim LK, Ferguson SM, Choi J, Wysolmerski J. Intracellular calcium links milk stasis to lysosome-dependent cell death during early mammary gland involution. Cell Mol Life Sci. 2024 Jan 12;81(1):29. doi: 10.1007/s00018-023-05044-8. PMID: 38212474; PMCID: PMC10784359.
2023
Hwang JY, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton RP, Ahmad W, Zhang K, Chung JJ. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. Elife. 2023 Dec 13;12:RP90095. doi: 10.7554/eLife.90095. PMID: 38091523; PMCID: PMC10721216.
Cho JM, Park HC, Lee JW, Ryu H, Kim YC, Ahn C, Lee KB, Kim YH, Han S, Kim Y, Bae EH, Kang HG, Park E, Jeong K, Kang S, Choi J, Oh KH, Oh YK. Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease. Kidney Res Clin Pract. 2023 Sep;42(5):617-627. doi: 10.23876/j.krcp.23.097. Epub 2023 Sep 27. PMID: 37813524; PMCID: PMC10565461.
Kim Y, Park HC, Ryu H, Kim YC, Ahn C, Lee KB, Kim YH, Han S, Bae EH, Jeong K, Choi J, Oh KH, Oh YK. Factors Associated With the Development and Severity of Polycystic Liver in Patients With Autosomal Dominant Polycystic Kidney Disease. J Korean Med Sci. 2023 Sep 25;38(38):e296. doi: 10.3346/jkms.2023.38.e296. PMID: 37750370; PMCID: PMC10519778.
Cho S, Chun Y, He L, Ramirez CB, Ganesh KS, Jeong K, Song J, Cheong JG, Li Z, Choi J, Kim J, Koundouros N, Ding F, Dephoure N, Jang C, Blenis J, Lee G. FAM120A couples SREBP-dependent transcription and splicing of lipogenesis enzymes downstream of mTORC1. Mol Cell. 2023 Aug 17;83(16):3010-3026.e8. doi: 10.1016/j.molcel.2023.07.017. PMID: 37595559; PMCID: PMC10494788.
Lee K*, Lee J*, Choi J, Sim SH, Kim JE, Kim MH, Park YH, Kim JH, Koh SJ, Park KH, Kang MJ, Ahn MS, Lee KE, Kim HJ, Ahn HK, Kim HJ, Park KU, Park IH. Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer. Sci Rep. 2023 Jun 19;13(1):9928. doi: 10.1038/s41598-023-35925-8. PMID: 37336919; PMCID: PMC10279711.
Oh SJ, Lim JY, Son MK, Ahn JH, Song KH, Lee HJ, Kim S, Cho EH, Chung JY, Cho H, Kim H, Kim JH, Park J, Choi J, Hwang SW, Kim TW. TRPV1 inhibition overcomes cisplatin resistance by blocking autophagy-mediated hyperactivation of EGFR signaling pathway. Nat Commun. 2023 May 10;14(1):2691. doi: 10.1038/s41467-023-38318-7. PMID: 37165076; PMCID: PMC10172196.
McNamara B, Harold J, Manavella DD, Bellone S, Mutlu L, Hartwich TMP, Zipponi M, Yang-Hartwich Y, Demirkiran C, Verzosa MS, Yang K, Choi J, Dong W, Buza N, Hui P, Altwerger G, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz PE, Burton EA, Inagaki H. Albers A, Zhang C, Bollag G, Schlessinger J, Santin AD. Uterine leiomyosarcomas harboring MAP2K4 gene amplification are sensitive in vivo to PLX8725, a novel MAP2K4 inhibitor. Gynecol Oncol. 2023 Mar 21;172:65-71. doi: 10.1016/j.ygyno.2023.03.009. Epub ahead of print. PMID: 36958197.
Feng X, Miao R, Lee M, Chen X, Guo S, Geng H, Muschen M, Choi J§, Pereira JP§ Cell circuits between leukemic cells and mesenchymal stem cells block lymphopoiesis by activating lymphotoxin-beta receptor signaling. Elife. 2023 Mar 13;12:e83533. doi: 10.7554/eLife.83533. PMID: 36912771; PMCID: PMC10042536.
Lim VY, Feng X, Miao R, Zehentmeier S, Ewing-Crystal N, Lee M, Tumanov AV, Oh JE, Iwasaki A, Wang A, Choi J§, Pereira JP§. Mature B cells and mesenchymal stem cells control emergency myelopoiesis. Life Sci Alliance. 2023 Jan 30;6(4):e202301924. doi: 10.26508/lsa.202301924. PMID: 36717247; PMCID: PMC9889502.
Harold J, Bellone S, Manavella DD, Mutlu L, McNamara B, Hartwich TMP, Zipponi M, Yang-Hartwich Y, Demirkiran C, Verzosa MS, Choi J, Dong W, Buza N, Hui P, Altwerger G, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz PE, Santin AD. Elimusertib (BAY1895344), a novel ATR inhibitor, demonstrates in vivo activity in ATRX mutated models of uterine leiomyosarcoma. Gynecol Oncol. 2023 Jan;168:157-165. doi: 10.1016/j.ygyno.2022.11.014. Epub 2022 Nov 25. PMID: 36442427; PMCID: PMC9797429.
2022
Manavella DD, McNamara B, Harold J, Bellone S, Hartwich TMP, Yang-Hartwich Y, Mutlu L, Zipponi M, Demirkiran C, Verzosa MS, Altwerger G, Ratner E, Huang GS, Clark M, Andikyan V, Azodi M, Schwartz PE, Dottino PR, Choi J, Alexandrov LB, Buza N, Hui P, Santin AD. Ovarian and uterine carcinosarcomas are sensitive in vitro and in vivo to elimusertib, a novel ataxia-telangiectasia and Rad3-related (ATR) kinase inhibitor. Gynecol Oncol. 2022 Dec 14;169:98-105. doi: 10.1016/j.ygyno.2022.12.003. Epub ahead of print. PMID: 36525930.
Kim Y, Kim C, Lee H, Kim M, Zheng H, Lim JY, Yun HI, Jeon M, Choi J, Hwang SW. Gpr83 Tunes Nociceptor Function, Controlling Pain. Neurotherapeutics. 2022 Nov 9. doi: 10.1007/s13311-022-01327-3. Epub ahead of print. PMID: 36352334.
Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J, Raja GK. A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells. 2022 Sep 30;11(19):3090. doi: 10.3390/cells11193090. PMID: 36231052; PMCID: PMC9564319.
Zehentmeier S, Lim VY, Ma Y, Fossati J, Ito T, Jiang Y, Tumanov AV, Lee HJ, Dillinger L, Kim J, Csomos K, Walter JE, Choi J, Pereira JP. Dysregulated stem cell niches and altered lymphocyte recirculation cause B and T cell lymphopenia in WHIM syndrome. Sci Immunol. 2022 Sep 23;7(75):eabo3170. doi: 10.1126/sciimmunol.abo3170. Epub 2022 Sep 23. PMID: 36149943; PMCID: PMC9614684.
Chan JM, Zaidi S, Love JR, Zhao JL, Setty M, Wadosky KM, Gopalan A, Choo ZN, Persad S, Choi J, LaClair J, Lawrence KE, Chaudhary O, Xu T, Masilionis I, Linkov I, Wang S, Lee C, Barlas A, Morris MJ, Mazutis L, Chaligne R, Chen Y, Goodrich DW, Karthaus WR, Pe'er D, Sawyers CL. Lineage plasticity in prostate cancer depends on JAK/STAT inflammatory signaling. Science. 2022 Sep 9;377(6611):1180-1191. doi: 10.1126/science.abn0478. Epub 2022 Aug 18. PMID: 35981096; PMCID: PMC9653178.
Cho JG, Kim SW, Lee A, Jeong HN, Yun E, Choi J, Jeong SJ, Chang W, Oh S, Yoo KH, Lee JB, Yoon S, Lee MS, Park JH, Jung MH, Kim SW, Kim KH, Suh DS, Choi KU, Choi J, Kim J, Kwon BS. MicroRNA-dependent inhibition of WEE1 controls cancer stem-like characteristics and malignant behavior in ovarian cancer. Mol Ther Nucleic Acids. 2022 Aug 24;29:803-822. doi: 10.1016/j.omtn.2022.08.028. PMID: 36159587; PMCID: PMC9463562.
Miao R, Chun H, Feng X, Gomes AC, Choi J§, Pereira JP§. Competition between hematopoietic stem and progenitor cells controls hematopoietic stem cell compartment size. Nat Commun. 2022 Aug 8;13(1):4611. doi: 10.1038/s41467-022-32228-w. PMID: 35941168; PMCID: PMC9360400.
Tymon-Rosario JR, Manara P, Manavella DD, Bellone S, Hartwich TMP, Harold J, Yang-Hartwich Y, Zipponi M, Choi J, Jeong K, Mutlu L, Yang K, Altwerger G, Menderes G, Ratner E, Huang GS, Clark M, Andikyan V, Azodi M, Schwartz PE, Alexandrov LB, Santin AD. Homologous recombination deficiency (HRD) signature-3 in ovarian and uterine carcinosarcomas correlates with preclinical sensitivity to Olaparib, a poly (adenosine diphosphate [ADP]- ribose) polymerase (PARP) inhibitor. Gynecol Oncol. 2022 Jul;166(1):117-125. doi: 10.1016/j.ygyno.2022.05.005. Epub 2022 May 20. PMID: 35599167.
Dong W, Wong KH, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR. Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia. J Lipid Res. 2022 Jun;63(6):100209. doi: 10.1016/j.jlr.2022.100209. Epub 2022 Apr 20. PMID: 35460704; PMCID: PMC9126845.
Wang H, Dou Q, Jeong KJ, Choi J, Gladyshev VN, Chung JJ. Redox regulation by TXNRD3 during epididymal maturation underlies capacitation-associated mitochondrial activity and sperm motility in mice. J Biol Chem. 2022 May 25;298(7):102077. doi: 10.1016/j.jbc.2022.102077. Epub ahead of print. PMID: 35643315; PMCID: PMC9218152.
Liu Y, Helgadottir HT, Kharaziha P, Choi J, López-Giráldez F, Mane SM, Höiom V, Juhlin CC, Larsson C, Bajalica-Lagercrantz S. Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer. Biomedicines. 2022 Apr 26;10(5):1004. doi: 10.3390/biomedicines10051004. PMID: 35625741; PMCID: PMC9138793.
Lee HJ, Song KH, Oh SJ, Kim S, Cho E, Kim J, Park YG, Lee KM, Yee C, Song SH, Chang S, Choi J, Jung ST, Kim TW. Targeting TCTP sensitizes tumor to T cell-mediated therapy by reversing immune-refractory phenotypes. Nat Commun. 2022 Apr 19;13(1):2127. doi: 10.1038/s41467-022-29611-y. PMID: 35440620; PMCID: PMC9019109.
Grinman DY, Boras-Granic K, Takyar FM, Dann P, Hens JR, Marmol C, Lee J, Choi J, Chodosh LA, Sola MEG, Wysolmerski JJ. PTHrP induces STAT5 activation, secretory differentiation and accelerates mammary tumor development. Breast Cancer Res. 2022 Apr 19;24(1):30. doi: 10.1186/s13058-022-01523-1. PMID: 35440032; PMCID: PMC9020078.
Lee J*, Yoo M*, Choi J§. Recent advances in spatially resolved transcriptomics: challenges and opportunities. BMB Rep. 2022 Mar;55(3):113-124. doi: 10.5483/BMBRep.2022.55.3.014. PMID: 35168703; PMCID: PMC8972138.
Lee JW, Park YS, Choi JY, Chang WJ, Lee S, Sung JS, Kim B, Lee SB, Lee SY, Choi J, Kim YH. Genetic Characteristics Associated With Drug Resistance in Lung Cancer and Colorectal Cancer Using Whole Exome Sequencing of Cell-Free DNA. Front Oncol. 2022 Mar 24;12:843561. doi: 10.3389/fonc.2022.843561. PMID: 35402275; PMCID: PMC8987589.
Bellone S, Roque DM, Siegel ER, Buza N, Hui P, Bonazzoli E, Guglielmi A, Zammataro L, Nagarkatti N, Zaidi S, Lee J, Silasi DA, Huang GS, Andikyan V, Damast S, Clark M, Azodi M, Schwartz PE, Tymon-Rosario JR, Harold JA, Mauricio D, Zeybek B, Menderes G, Altwerger G, Ratner E, Alexandrov LB, Iwasaki A, Kong Y, Song E, Dong W, Elvin JA, Choi J, Santin AD. A phase 2 evaluation of pembrolizumab for recurrent Lynch-like versus sporadic endometrial cancers with microsatellite instability. Cancer. 2022 Mar 15;128(6):1206-1218. doi: 10.1002/cncr.34025. Epub 2021 Dec 7. PMID: 34875107.
Lee Y, Dho SH, Lee J, Hwang JH, Kim M, Choi WY, Lee JY, Lee J, Chang W, Lee MY, Choi J, Kim TY, Kim LK. Hypermethylation of PDX1, EN2, and MSX1 predicts the prognosis of colorectal cancer. Exp Mol Med. 2022 Feb;54(2):156-168. doi: 10.1038/s12276-022-00731-1. Epub 2022 Feb 15. PMID: 35169223; PMCID: PMC8894425.
2021
Jeong J, Shin JH, Li W, Hong JY, Lim J, Hwang JY, Chung JJ, Yan Q, Liu Y, Choi J, Wysolmerski J. MAL2 mediates the formation of stable HER2 signaling complexes within lipid raft-rich membrane protrusions in breast cancer cells. Cell Rep. 2021 Dec 28;37(13):110160. doi: 10.1016/j.celrep.2021.110160. PMID: 34965434; PMCID: PMC8762588.
Yang YN, Kim Y, Kim H, Kim SJ, Cho KM, Kim Y, Lee DS, Lee MH, Kim SY, Hong JC, Kwon SJ, Choi J, Park OK. The transcription factor ORA59 exhibits dual DNA binding specificity that differentially regulates ethylene- and jasmonic acid-induced genes in plant immunity. Plant Physiol. 2021 Dec 4;187(4):2763-2784. doi: 10.1093/plphys/kiab437. PMID: 34890461.
Choi J§, Ryoo ZY, Cho DH, Lee HS, Ryu HY. Trans-tail regulation-mediated suppression of cryptic transcription. Exp Mol Med. 2021 Nov;53(11):1683-1688. doi: 10.1038/s12276-021-00711-x. Epub 2021 Nov 29. PMID: 34845331; PMCID: PMC8639711.
Kars ME, Başak AN, Onat OE, Bilguvar K, Choi J, Itan Y, Çağlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, Buluş H, Günel M, Friedman JM, Özçelik T. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proc Natl Acad Sci U S A. 2021 Sep 7;118(36):e2026076118. doi: 10.1073/pnas.2026076118. PMID: 34426522.
Bellone S, Roque DM, Siegel ER, Buza N, Hui P, Bonazzoli E, Guglielmi A, Zammataro L, Nagarkatti N, Zaidi S, Lee J, Silasi DA, Huang GS, Andikyan V, Damast S, Clark M, Azodi M, Schwartz PE, Tymon-Rosario J, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Ratner E, Alexandrov LB, Iwasaki A, Kong Y, Song E, Dong W, Elvin J, Choi J, Santin AD. A phase II evaluation of pembrolizumab in recurrent microsatellite instability-high (MSI-H) endometrial cancer patients with Lynch-like versus MLH-1 methylated characteristics (NCT02899793). Ann Oncol. 2021 Aug;32(8):1045-1046. doi: 10.1016/j.annonc.2021.04.013. Epub 2021 Apr 28. PMID: 33932502.
Lee J*, Hwang JH*, Chun H*, Woo W, Oh S, Choi J§, Kim LK§. PLEKHA8P1 Promotes Tumor Progression and Indicates Poor Prognosis of Liver Cancer. Int J Mol Sci. 2021 Jul 16;22(14):7614. doi: 10.3390/ijms22147614. PMID: 34299245; PMCID: PMC8304620.
Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Ünlüsoy Aksu A, Evirgen Şahin G, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med. 2021 Jul 5;218(7):e20201745. doi: 10.1084/jem.20201745. Epub 2021 May 6. PMID: 33956074; PMCID: PMC8105721.
Foggetti G, Li C, Cai H, Hellyer JA, Lin WY, Ayeni D, Hastings K, Choi J, Wurtz A, Andrejka L, Maghini DG, Rashleigh N, Levy S, Homer R, Gettinger SN, Diehn M, Wakelee HA, Petrov DA, Winslow MM, Politi K. Genetic Determinants of EGFR-Driven Lung Cancer Growth and Therapeutic Response In Vivo. Cancer Discov. 2021 Jul;11(7):1736-1753. doi: 10.1158/2159-8290.CD-20-1385. Epub 2021 Mar 11. PMID: 33707235; PMCID: PMC8530463.
Park SJ, Jeong TY, Shin SK, Yoon DE, Lim SY, Kim SP, Choi J, Lee H, Hong JI, Ahn J, Seong JK, Kim K. Targeted mutagenesis in mouse cells and embryos using an enhanced prime editor. Genome Biol. 2021 Jun 3;22(1):170. doi: 10.1186/s13059-021-02389-w. PMID: 34082781; PMCID: PMC8173820.
Hwang JY*, Nawaz S*, Choi J*, Wang H, Hussain S, Nawaz M, Lopez-Giraldez F, Jeong K, Dong W, Oh JN, Bilguvar K, Mane S, Lee CK, Bystroff C, Lifton RP, Ahmad W, Chung JJ. Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. Front Cell Dev Biol. 2021 Apr 23;9:662903. doi: 10.3389/fcell.2021.662903. PMID: 33968937; PMCID: PMC8103034.
Shin JH, Jeong J, Choi J, Lim J, Dinesh RK, Braverman J, Hong JY, Maher SE, Amezcua Vesely MC, Kim W, Koo JH, Tang W, Wu D, Blackburn HN, Xicola RM, Llor X, Yilmaz O, Choi JM, Bothwell ALM. Dickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1. iScience. 2021 Apr 15;24(5):102411. doi: 10.1016/j.isci.2021.102411. PMID: 33997693; PMCID: PMC8099562.
Choi J*, Manzano A*, Dong W*, Bellone S, Bonazzoli E, Zammataro L, Yao X, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao S, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Ardighieri L, Bilguvar K, Quick CM, Silasi DA, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Imielinski M, Schwartz PE, Alexandrov LB, Lifton RP, Schlessinger J, Santin AD. Integrated mutational landscape analysis of uterine leiomyosarcomas. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2025182118. doi: 10.1073/pnas.2025182118. PMID: 33876771; PMCID: PMC8053980.
Park HC, Ryu H, Kim YC, Ahn C, Lee KB, Kim YH, Kim Y, Han S, Kim Y, Bae EH, Ma SK, Kang HG, Ahn YH, Park E, Jeong K, Lee J, Choi J, Oh KH, Oh YK. Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study. BMC Nephrol. 2021 Jan 6;22(1):2. doi: 10.1186/s12882-020-02207-8. PMID: 33407230.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. PMID: 33098347.
2020
Dong W, Jin SC, Allocco A, Zeng X, Sheth A, Panchagnula S, Castonguay A, Lorenzo LÉ, Islam B, Brindle G, Bachand K, Hu J, Sularz A, Gaillard J, Choi J, Dunbar A, Nelson-Williams C, Kiziltug E, Furey CG, Conine S, Duy PQ, Kundishora A, Loring E, Li B, Lu Q, Zhou G, Liu W, Li X, Sierant MC, Mane S, Castaldi C, López-Giráldez F, Knight JR, Sekula R, Simard MJ, Eskandar EN, Gottschalk C, Moliterno J, Günel M, Gerrard JL, Dib-Hajj S, Waxman SG, Barker II FG, Alper SL, Chahine M, Haider S, De Koninck Y, Lifton RP, Kahle KT. Exome sequencing implicates impaired GABA signaling and neuronal ion transport in trigeminal neuralgia. ISCIENCE. 2020. doi: https://doi.org/10.1016/ j.isci.2020.101552.
Morton S, Agarwal R, Madden J, Genetti C, Brownstein C, Lopez F, Choi J, Seidman C, Seidman J, Lyon G, Agrawal P. Congenital heart defects due to TAF1 missense variants. Circulation: Genomic and Precision Medicine. 2020 May 12. doi: 10.1161/CIRCGEN.119.002843. Epub ahead of print. PMID: 32396742.
Wilson EM, Choi J, Torres VE, Somlo S, Besse W. Large deletions in GANAB and SEC63 explain two cases of polycystic kidney and liver disease. Kidney International Reports. 2020 Jan 30;5(5):727-731. doi: 10.1016/j.ekir.2020.01.009. PMID: 32405593; PMCID: PMC7210741.
2019
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of Dominant MYH11 Causal Variant in Chronic Intestinal Pseudo-Obstruction: Results of Whole-Exome Sequencing. Clin Genet. 2019 Nov;96(5):473-477. doi: 10.1111/cge.13617. Epub 2019 Aug 13. PMID: 31389005.
Zammataro L, Lopez S, Bellone S, Pettinella F, Bonazzoli E, Perrone E, Zhao S,Menderes G, Altwerger G, Han C, Zeybek B, Bianchi A, Manzano A, Manara P, Cocco E, Buza N, Hui P, Wong S, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Donzelli C, Ardighieri L, Angioli R, Raspagliesi F, Scambia G, Choi J, Dong W, Bilguvar K, Alexandrov LB, Silasi DA, Huang GS, Ratner E, Azodi M, Schwartz PE, Pirazzoli V, Stiegler AL, Boggon TJ, Lifton RP, Schlessinger J, Santin AD. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22730-22736. doi: 10.1073/pnas.1911385116. Epub 2019 Oct 17. PMID: 31624127; PMCID: PMC6842590.
Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S. Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. Kidney Int Rep. 2019 Sep 11;5(1):103-108. doi: 10.1016/j.ekir.2019.09.004. PMID: 31922066; PMCID: PMC6943786.
Datar I, Sanmamed M, Wang J, Henick B, Choi J, Badri T, Dong W, Mani N, Toki M, Mejias L, Lozano MD, Pérez-Gracia JL, Velcheti V, Hellmann M, Gainor J, McEachern K, Jenkins D, Syrigos K, Politi K, Gettinger S, Rimm DL, Herbst RS, Melero I, Chen L, Schalper KA. Expression analysis and significance of PD-1, LAG-3 and TIM-3 in human non-small cell lung cancer using spatially-resolved and multiparametric single-cell analysis. Clin Cancer Res. 2019. Aug 1;25(15):4663-4673. doi: 10.1158/1078-0432.CCR-18-4142. Epub 2019 May 3. PMID: 31053602.
Hastings K, Yu H, Wei W, Sanchez-Vega F, DeVeaux M, Choi J, Rizvi H, Lisberg A, Truini A, Lydon CA, Liu Z, Henick BS, Wurtz A, Cai G, Plodkowski AJ, Long NM, Bch MC, Halpenny DF, Killam J, Oliva I, Schultz N, Riely GJ, Arcila ME, Ladanyi M, Zelterman D, Herbst RS, Goldberg SB, Awad MM, Garon EB, Gettinger S, Hellmann MD, Politi K. EGFR mutation subtypes and response to immune checkpoint blockade treatment in non-small cell lung cancer. Ann Oncol. 2019 Aug 1;30(8):1311-1320. doi: 10.1093/annonc/mdz141. PMID: 31086949; PMCID: PMC6683857.
Xicola RM, Clark JR, Carroll T, Alvikas J, Marwaha P, Regan MR, Lopez-Giraldez F, Choi J, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Ellis NA, Llor X. Implication of DNA repair genes in Lynch-like syndrome. Fam Cancer. Jul;18(3):331-342. doi: 10.1007/s10689-019-00128-6. PMID: 30989425; PMCID: PMC6561810.
Yuan Y, Park J, Tian Y, Choi J, Pasquariello R, Alexenko AP, Dai A, Behura SK, Roberts RM, Ezashi T. A six-inhibitor culture medium for improving naïve-type pluripotency of porcine pluripotent stem cells. Cell Death Discov. 2019 Jun 17;5:104. doi: 10.1038/s41420-019-0184-4. PMID: 31240131; PMCID: PMC6579764.
Datar I, Kalpana G, de la Serna I, Trumbly R, Choi J, Yeung KC. Critical role of miR-10b in BRafV600E dependent anchorage independent growth and invasion of melanoma cells. PLoS One. 2019 Apr 17;14(4):e0204387. doi: 10.1371/journal.pone.0204387. eCollection 2019. PubMed PMID: 30995246; PubMed Central PMCID: PMC6469749.
Li C, Bonazzoli E, Bellone S, Choi J, Dong W, Menderes G, Altwerger G, Han C, Manzano A, Bianchi A, Pettinella F, Manara P, Lopez S, Yadav G, Riccio F, Zammataro L, Zeybek B, Yang-Hartwich Y, Buza N, Hui P, Wong S, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Zizioli V, Odicino F, Pecorelli S, Ardighieri L, Silasi D, Litkouhi B, Ratner E, Azodi M, Huang G, Schwartz PE, Lifton RP, Schlessinger J, Santin AD. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors. Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5829. doi: 10.1073/pnas.1902633116. Epub 2019 Mar 11. Erratum for: Proc Natl Acad Sci U S A. 2019 Jan 8;116(2):619-624. PMID: 30858325; PMCID: PMC6431167.
Schalper KA, Diez-Valle R, Rodriguez-Ruiz ME, López-Janeiro A, Porciuncula A, Idoate MA, Inogés S, de Andrea C, de Cerio ALD, Tejada S, Berraondo P, Villarroel-Espindola F, Choi J, Gúrpide A, Giraldez M, Goicoechea I, Gallego J, Sanmamed MF, BMS, Perez-Gracia J, and Melero I. Neoadjuvant nivolumab modifies the tumor immune microenvironment in resectable glioblastoma. Nat Med. 2019 Mar;25(3):470-476. doi: 10.1038/s41591-018-0339-5. Epub 2019 Feb 11. PubMed PMID: 30742120.
Duran D*, Zeng X*, Jin SC*, Choi J*, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Timberlake AT, Mansuri MS, Sorscher MA, Loring E, Klein J, Lu Q, JD Montejo, Vera A, Hu JK, Allocco A, Karimy JK, Panchagnula S, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova I, Castaldi C, López-Giráldez F, Knight J, Haider S, Alper SL, Komiyama M, Ducruet SF, Zabramski JM, Dardik A, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Vikkula M, Bilguvar K, Gunel M, Lifton RP, Kahle KT. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18. PubMed PMID: 30578106.
Jeong J, Choi J, Kim W, Dann P, Takyar F, Gefter J, Friedman PA, Wysolmerski J. Inhibition of Ezrin Causes PKCα-Mediated Internalization and Degradation of ErbB2/HER2 in Breast Cancer Cells. J Biol Chem. 2019 Jan 18;294(3):887-901. doi: 10.1074/jbc.RA118.004143. Epub 2018 Nov 21. PubMed PMID: 30463939; PubMed Central PMCID: PMC6341383.
2018
Sierant MC, Choi J^. Single-Cell Sequencing in Cancer: Recent Applications to Immunogenomics and Multi-omics Tools. Genomics Inform. 2018 Dec;16(4):e17. doi:10.5808/GI.2018.16.4.e17. Epub 2018 Dec 28. PubMed PMID: 30602078.
Dong W, Nicolson NG, Choi J, Barbieri AL, Kunstman JW, Azar SA, Knight J, Bilguvar K, Mane SM, Lifton RP, Korah R, Carling T. Clonal Evolution Analysis of Paired Anaplastic and Well-Differentiated Thyroid Carcinomas Reveals Shared Common Ancestor. Genes Chromosomes Cancer. 2018 Dec;57(12):645-652. doi: 10.1002/gcc.22678. Epub 2018 Sep 24. PubMed PMID: 30136351.
Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT. Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus. World Neurosurg. 2018 Nov;119:441-443. doi: 10.1016/j.wneu.2018.09.018. Epub 2018 Sep 8. PubMed PMID: 30205212.
Gettinger SN*, Choi J*, Mani N*, Sanmamed MF, Datar I, Sowell R, Du VY, Kaftan E, Goldberg S, Dong W, Zelterman D, Politi K, Kavathas P, Kaech S, Yu X, Zhao H, Schlessinger J, Lifton R, Rimm DL, Chen L, Herbst RS, Schalper KA. A dormant TIL phenotype defines non-small cell lung carcinomas sensitive to immune checkpoint blockers. Nat Commun. 2018 Aug 10;9(1):3196. doi: 10.1038/s41467-018-05032-8. PubMed PMID: 30097571; PubMed Central PMCID: PMC6086912.
Furey CG*, Choi J*, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5. PubMed PMID: 29983323.
Bellone S, Buza N, Choi J, Zammataro L, Gay L, Elvin J, Rimm DL, Liu Y, Ratner ES, Schwartz PE, Santin AD. Exceptional Response to Pembrolizumab in a Metastatic, Chemotherapy/Radiation-Resistant Ovarian Cancer Patient Harboring a PD-L1-Genetic Rearrangement. Clin Cancer Res. 2018 Jul 15;24(14):3282-3291. doi: 10.1158/1078-0432.CCR-17-1805. Epub 2018 Jan 19. PubMed PMID:29351920; PubMed Central PMCID: PMC6050068.
Nicolson NG, Murtha TD, Dong W, Paulsson JO, Choi J, Barbieri AL, Brown TC, Kunstman JW, Larsson C, Prasad ML, Korah R, Lifton RP, Juhlin CC, Carling T. Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2640-2650. doi: 10.1210/jc.2018-00277. PubMed PMID: 29726952.
Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat Genet. 2018 Mar;50(3):349-354. doi: 10.1038/s41588-018-0048-5. Epub 2018 Feb 5. PubMed PMID: 29403011; PubMed Central PMCID: PMC5862758.
Besse W, Choi J, Ahram D, Mane S, Sanna-Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Hum Mutat. 2018 Mar;39(3):378-382. doi: 10.1002/humu.23383. Epub 2018 Jan 24. PubMed PMID: 29243290; PubMed Central PMCID: PMC5805583.
2017
Gettinger S*, Choi J*, Hastings K*, Truini A*, Datar I*, Sowell R, Wurtz A, Dong W, Cai G, Melnick MA, Du VY, Schlessinger J, Goldberg SB, Chiang A, Sanmamed MF, Melero I, Agorreta J, Montuenga LM, Lifton R, Ferrone S, Kavathas P, Rimm DL, Kaech SM, Schalper K, Herbst RS, Politi K. Impaired HLA Class I Antigen Processing and Presentation as a Mechanism of Acquired Resistance to Immune Checkpoint Inhibitors in Lung Cancer. Cancer Discov. 2017 Dec;7(12):1420-1435. doi: 10.1158/2159-8290.CD-17-0593. Epub 2017 Oct 12. PubMed PMID: 29025772; PubMed Central PMCID: PMC5718941.
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347. doi: 10.1073/pnas.1709255114. Epub 2017 Aug 14. PubMed PMID: 28808027.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. PubMed PMID: 28375157; PubMed Central PMCID: PMC5409105.
Jeong J, VanHouten JN, Kim W, Dann P, Sullivan C, Choi J, Sneddon WB, Friedman PA, Wysolmerski JJ. The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2. J Biol Chem. 2017 Apr 21;292(16):6555-6568.doi: 10.1074/jbc.M116.770883. Epub 2017 Feb 24. PubMed PMID: 28235801; PubMed Central PMCID: PMC5399107.
2016
Santin AD, Bellone S, Buza N, Choi J, Schwartz PE, Schlessinger J, Lifton RP. Regression of Chemotherapy-Resistant Polymerase ε (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab. Clin Cancer Res. 2016 Dec 1;22(23):5682-5687. doi: 10.1158/1078-0432.CCR-16-1031. Epub 2016 Aug 2. PMID: 27486176; PMCID: PMC5135588.
Zhao S, Bellone S, Lopez S, Thakral D, Schwab C, English DP, Black J, Cocco E, Choi J, Zammataro L, Predolini F, Bonazzoli E, Bi M, Buza N, Hui P, Wong S, Abu-Khalaf M, Ravaggi A, Bignotti E, Bandiera E, Romani C, Todeschini P, Tassi R, Zanotti L, Odicino F, Pecorelli S, Donzelli C, Ardighieri L, Facchetti F, Falchetti M, Silasi DA, Ratner E, Azodi M, Schwartz PE, Mane S, Angioli R, Terranova C, Quick CM, Edraki B, Bilgüvar K, Lee M, Choi M, Stiegler AL, Boggon TJ, Schlessinger J, Lifton RP, Santin AD. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition. Proc Natl Acad Sci U S A. 2016 Oct 25;113(43):12238-12243. doi: 10.1073/pnas.1614120113. Epub 2016 Oct 10. PMID: 27791010; PMCID: PMC5087050.
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife. 2016 Sep 8;5.pii: e20125. doi: 10.7554/eLife.20125. PubMed PMID: 27606499; PubMed Central PMCID: PMC5045293.
Li Y, Shah-Simpson S, Okrah K, Belew AT, Choi J, Caradonna KL, Padmanabhan P, Ndegwa DM, Temanni MR, Corrada Bravo H, El-Sayed NM, Burleigh BA. Transcriptome Remodeling in Trypanosoma cruzi and Human Cells during Intracellular Infection. PLoS Pathog. 2016 Apr 5;12(4):e1005511. doi: 10.1371/journal.ppat.1005511. eCollection 2016 Apr. PubMed PMID: 27046031; PubMed Central PMCID: PMC4821583.
2015
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr13. PubMed PMID: 25848748; PubMed Central PMCID: PMC4414891.
2012
Choi J*, El-Sayed NM. Functional genomics of trypanosomatids. Parasite Immunol. 2012 Feb-Mar;34(2-3):72-9. doi: 10.1111/j.1365-3024.2011.01347.x. Review. PubMed PMID: 22132795.