Lab members in bold.

* equal author contribution

Full list of publications

Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F (2023).

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. Nucleic Acids Research gkad523. doi: 10.1093/nar/gkad523.

Khan H, Koh G, Chong AEQ, Zahid M, Hussain S, Ali H, Ahmad W, Xue S (2022).

A novel variant in AFF3 underlying isolated syndactyly. Clinical Genetics 103(3):341-345.

Xue S, Ly TTN, Vijayakar RS, Chen J, Ng J, Mathuru AS, Magdinier F, Reversade B (2022).

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring. Nature Communications 13(1):3583.

In the news: CNA938 radio, Phys.org

Nguyen TA, Heng JWJ, Kaewsapsak P, Kok EPL, Stanojević D, Liu H, Cardilla A, Praditya A, Yi Z, Lin M, Aw JGA, Ho YY, Peh KLE, Wang Y, Zhong Q, Heraud-Farlow J, Xue S, Reversade B, Walkley C, Ho YS, Šikić M, Wan Y, Tan MH. (2022)

Direct identification of A-to-I editing sites with nanopore native RNA sequencing. Nature Methods 19(7):833-844.

Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W (2021).

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome. Journal of Human Genetics 67(5):253-259.

Laberthonnière C, Novoa-Del-Toro EM, Chevalier R, Broucqsault N, Rao VV, Trani JP, Nguyen K, Xue S, Reversade B, Robin JD, Baudot A, Magdinier F (2021).

AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome. Biomedicines 9(7):751.

Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B (2021).

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. American Journal of Human Genetics 108(7):1301-1317.

Leppek K, Fujii K, Quade N, Susanto TT, Boehringer D, Lenaricic T, Xue S, Genuth NR, Ban N, Barna M (2020).

Gene- and Species-Specific Hox mRNA Translation by Ribosome Expansion Segments. Molecular Cell 80(6):980-995

Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F (2019).

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. Nucleic Acids Research 47(6):2822-2839

Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM (2018).

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. Journal of Biological Chemistry 293(25):9841-9853

Xue S, Maluenda J, Marguet F*, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J (2017).

Loss-of-function mutations in LGI4, a secreted ligand involved in Schwann cell myelination, are responsible for arthrogryposis multiplex congenital. American Journal of Human Genetics 100(4):659-665

Gordon CT, Xue S, Yigit G, Filali H, Chen K*, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B (2017).

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics 49(2):249-255.

Highlighted in News & Views

In the news: Yahoo! News, Asian Scientist Magazine, The Straits Times

Xue S, Barna M (2015).

Cis-regulatory RNA elements that regulate specialized ribosome activity. RNA Biology 12(10):1083-7

Xue S, Tian S, Fujii K, Kladwang W, Das R, Barna M (2015).

RNA regulons in Hox 5’UTRs confer ribosome specificity to gene regulation. Nature 517:33-38

Highlighted in News & Views

Xue S, Barna M (2012).

Specialized ribosomes: a new frontier in gene regulation and organismal biology. Nature Reviews Molecular Cell Biology 13(6):355-369

Kondrashov N, Pusic A, Stumpf CR, Shimizu K, Hsieh AC, Xue S, Ishijima J, Shiroishi T, Barna M (2011).

Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning. Cell 145(3):383-397.

Publications: List

Lab members in bold.

* equal author contribution

Full list of publications

Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F (2023).

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. Nucleic Acids Research gkad523. doi: 10.1093/nar/gkad523.

Khan H, Koh G, Chong AEQ, Zahid M, Hussain S, Ali H, Ahmad W, Xue S (2022).

A novel variant in AFF3 underlying isolated syndactyly. Clinical Genetics 103(3):341-345.

Xue S*, Ly TTN, Vijayakar RS, Chen J, Ng J, Mathuru AS, Magdinier F, Reversade B* (2022).

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring. Nature Communications 13(1):3583.

Nguyen TA, Heng JWJ, Kaewsapsak P, Kok EPL, Stanojević D, Liu H, Cardilla A, Praditya A, Yi Z, Lin M, Aw JGA, Ho YY, Peh KLE, Wang Y, Zhong Q, Heraud-Farlow J, Xue S, Reversade B, Walkley C, Ho YS, Šikić M, Wan Y, Tan MH. (2022)

Direct identification of A-to-I editing sites with nanopore native RNA sequencing. Nature Methods 19(7):833-844.

Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W (2021).

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome. Journal of Human Genetics 67(5):253-259.

Laberthonnière C, Novoa-Del-Toro EM, Chevalier R, Broucqsault N, Rao VV, Trani JP, Nguyen K, Xue S, Reversade B, Robin JD, Baudot A, Magdinier F (2021).

AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome. Biomedicines 9(7):751.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. American Journal of Human Genetics 108(7):1301-1317.

Leppek K, Fujii K, Quade N, Susanto TT, Boehringer D, Lenaricic T, Xue S, Genuth NR, Ban N, Barna M (2020).

Gene- and Species-Specific Hox mRNA Translation by Ribosome Expansion Segments. Molecular Cell 80(6):980-995

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. Nucleic Acids Research 47(6):2822-2839

Gurzau AD*, Chen K*, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM (2018).

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. Journal of Biological Chemistry 293(25):9841-9853

Xue S*, Maluenda J*, Marguet F*, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J (2017).

Loss-of-function mutations in LGI4, a secreted ligand involved in Schwann cell myelination, are responsible for arthrogryposis multiplex congenital. American Journal of Human Genetics 100(4):659-665

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics 49(2):249-255.

Xue S, Barna M (2015).

Cis-regulatory RNA elements that regulate specialized ribosome activity. RNA Biology 12(10):1083-7

Xue S, Tian S, Fujii K, Kladwang W, Das R, Barna M (2015).

RNA regulons in Hox 5’UTRs confer ribosome specificity to gene regulation. Nature 517:33-38

Xue S, Barna M (2012).

Specialized ribosomes: a new frontier in gene regulation and organismal biology. Nature Reviews Molecular Cell Biology 13(6):355-369

Kondrashov N, Pusic A, Stumpf CR, Shimizu K, Hsieh AC, Xue S, Ishijima J, Shiroishi T, Barna M (2011).

Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning. Cell 145(3):383-397.

Xue S, Ly TTN, Vijayakar RS, Chen J, Ng J, Mathuru AS, Magdinier F, Reversade B (2022).

Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM (2018).

Xue S, Maluenda J, Marguet F*, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J (2017).