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S

Shifeng Xue

National University of Singapore
H指数:13
被引数:2,247

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ARTICLE DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
GENETICS IN MEDICINE
IF6.2
2024-07-010
PRE
Lavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
NATURE COMMUNICATIONS
IF15.7
2023-09-258
OAAI
Tapia del Fierro, Andres; den Hamer, Bianca; Benetti, Natalia; Jansz, Natasha; Chen, Kelan; Beck, Tamara; Vanyai, Hannah; Gurzau, Alexandra D.; Daxinger, Lucia; Xue, Shifeng; Ly, Thanh Thao Nguyen; Wanigasuriya, Iromi; Iminitoff, Megan; Breslin, Kelsey; Oey, Harald; Krom, Yvonne D.; van der Hoorn, Dinja; Bouwman, Linde F.; Johanson, Timothy M.; Ritchie, Matthew E.; Gouil, Quentin A.; Reversade, Bruno; Prin, Fabrice; Mohun, Timothy; van der Maarel, Silvere M.; Mcglinn, Edwina; Murphy, James M.; Keniry, Andrew; de Greef, Jessica C.; Blewitt, Marnie E.
Direct identification of A-to-I editing sites with nanopore native RNA sequencing

用纳米孔天然RNA测序直接鉴定a-i编辑位点

NATURE METHODS
IF32.1
2022-06-1351
PRE
Nguyen, Tram Anh; Heng, Jia Wei Joel; Kaewsapsak, Pornchai; Kok, Eng Piew Louis; Stanojevic, Dominik; Liu, Hao; Cardilla, Angelysia; Praditya, Albert; Yi, Zirong; Lin, Mingwan; Aw, Jong Ghut Ashley; Ho, Yin Ying; Peh, Kai Lay Esther; Wang, Yuanming; Zhong, Qixing; Heraud-Farlow, Jacki; Xue, Shifeng; Reversade, Bruno; Walkley, Carl; Ho, Ying Swan; Sikic, Mile; Wan, Yue; Tan, Meng How
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-0114
OAAI
Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-011
OAAI
Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Thanh Thao Nguyen Ly; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Ikay, Sedat Is Comma; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
NUCLEIC ACIDS RESEARCH
IF13.1
2019-01-3040
OAAI
Dion, Camille; Roche, Stephane; Laberthonniere, Camille; Broucqsault, Natacha; Mariot, Virginie; Xue, Shifeng; Gurzau, Alexandra D.; Nowak, Agnieszka; Gordon, Christopher T.; Gaillard, Marie-Cecile; El-Yazidi, Claire; Thomas, Morgane; Schlupp-Robaglia, Andree; Missirian, Chantal; Malan, Valerie; Ratbi, Liham; Sefiani, Abdelaziz; Wollnik, Bernd; Binetruy, Bernard; Campana, Emmanuelle Salort; Attarian, Shahram; Bernard, Rafaelle; Nguyen, Karine; Amie, Jeanne; Dumonceaux, Julie; Murphy, James M.; Dejardin, Jerome; Blewitt, Marnie E.; Reversade, Bruno; Robin, Jerome D.; Magdinier, Frederique
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2017-04-0125
OAAI
Xue, Shifeng; Maluenda, Jerome; Marguet, Florent; Shboul, Mohammad; Quevarec, Loic; Bonnard, Carine; Ng, Alvin Yu Jin; Tohari, Sumanty; Thong Teck Tan; Kong, Mung Kei; Monaghan, Kristin G.; Cho, Megan T.; Siskind, Carly E.; Sampson, Jacinda B.; Rocha, Carolina Tesi; Alkazaleh, Fawaz; Gonzales, Marie; Rigonnot, Luc; Whalen, Sandra; Gut, Marta; Gut, Ivo; Bucourt, Martine; Venkatesh, Byrappa; Laquerriere, Annie; Reversade, Bruno; Melki, Judith
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
NATURE GENETICS
IF31.8
2017-01-0990
OAAI
Gordon, Christopher T.; Xue, Shifeng; Yigit, Goekhan; Filali, Hicham; Chen, Kelan; Rosins, Nadine; Yoshiura, Koh-ichiro; Oufadem, Myriam; Beck, Tamara J.; McGowan, Ruth; Magee, Alex C.; Altmueller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D.; Nuernberg, Peter; Meschede, Dieter; Muehlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S. Faisal; Bonnard, Carine; Kong, Mung Kei; Ratbi, Ilham; Fejjal, Nawfal; Fikri, Meriem; Elalaoui, Siham Chafai; Reigstad, Hallvard; Bole-Feysot, Christine; Nitschke, Patrick; Ragge, Nicola; Levy, Nicolas; Tuncbilek, Goekhan; Teo, Audrey S. M.; Cunningham, Michael L.; Sefiani, Abdelaziz; Kayserili, Huelya; Murphy, James M.; Chatdokmaiprai, Chalermpong; Hillmer, Axel M.; Wattanasirichaigoon, Duangrurdee; Lyonnet, Stanislas; Magdinier, Frederique; Javed, Asif; Blewitt, Marnie E.; Amiel, Jeanne; Wollnik, Bernd; Reversade, Bruno

研究方向

暂未获取到该数据
B
Bruno Reversade
H 指数:55论文数:281被引数:1.0万
F
Frédérique Magdinier
H 指数:36论文数:153被引数:4,170
T
Thanh Thao Nguyen Ly
H 指数:5论文数:12被引数:107
H
Hülya Kayserili
H 指数:71论文数:351被引数:2.0万
J
James M. Murphy
H 指数:89论文数:488被引数:2.6万
A
Alexandra D. Gurzau
H 指数:7论文数:13被引数:329
M
Marnie E. Blewitt
H 指数:42论文数:171被引数:6,503
M
Maria Barna
H 指数:37论文数:86被引数:1.0万
K
Kelan Chen
H 指数:14论文数:29被引数:1,681
K
Karine Nguyen
H 指数:33论文数:150被引数:3,949