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C

Constantine A. Stratakis

national institutes of health
H指数:111
被引数:4.8万

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Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

在临床环境中，使用生物信息学工具POSTRE区分涉及GPR101和VGLL1-adjacent enhancers的良性重复与致病性重复。

npj Genomic Medicine
IF4.8
2026-01-150
OAAI
Giampaolo Trivellin; Víctor Sánchez-Gaya; Alexia Grasso; Magdalena Pasińska; Constantine A. Stratakis; Di Milnes; Edwin P. Kirk; Albert Beckers; Andrea G. Lania; Patrick Pétrossians; Alvaro Rada-Iglesias; Martin Franke; Adrian F. Daly
KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation
EUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
2025-02-080
PRE
Bouys, Lucas; Vaduva, Patricia; Jouinot, Anne; Violon, Florian; Vaczlavik, Anna; Barat, Maxime; Charchar, Helaine; Chasseloup, Fanny; Kamilaris, Crystal; Espiard, Stephanie; Haissaguerre, Magalie; Raverot, Gerald; Kroiss, Matthias; Berthon, Annabel; Perlemoine, Karine; Tauveron, Igor; Guignat, Laurence; Libe, Rossella; Groussin, Lionel; Assie, Guillaume; Pasmant, Eric; Reincke, Martin; Borson-Chazot, Francoise; Ferriere, Amandine; Vantyghem, Marie-Christine; Stratakis, Constantine A.; Kamenicky, Peter; Fragoso, Maria Candida Barisson Villares; Chansavang, Albain; Ragazzon, Bruno; Bertherat, Jerome
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-02-051
OAAI
Bouys, Lucas; Vaczlavik, Anna; Cavalcante, Isadora P.; Violon, Florian; Jouinot, Anne; Berthon, Annabel; Vaduva, Patricia; Espiard, Stephanie; Perlemoine, Karine; Kamenicky, Peter; Vantyghem, Marie-Christine; Tabarin, Antoine; Raverot, Gerald; Ronchi, Cristina L.; Dischinger, Ulrich; Reincke, Martin; Fragoso, Maria C.; Stratakis, Constantine A.; Chansavang, Albain; Pasmant, Eric; Ragazzon, Bruno; Bertherat, Jerome
PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2025-01-070
OA
Vaduva, Patricia; Bouys, Lucas; Jouinot, Anne; Espiard, Stephanie; Chansavang, Albain; Berthon, Annabel; Neou, Mario; Vaczlavik, Anna; Violon, Florian; Charchar, Helaine; Kroiss, Matthias; Raverot, Gerald; Lasolle, Helene; Guignat, Laurence; Libe, Rossella; Assie, Guillaume; Tabarin, Antoine; Kamenicky, Peter; Pasmant, Eric; Fragoso, Maria; Stratakis, Constantine; Ragazzon, Bruno; Bertherat, Jerome
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
JCI INSIGHT
IF6.1
2024-02-220
OA
Manoli, Irini; Sysol, Justin R.; Head, PamelaSara E.; Epping, Madeline W.; Gavrilova, Oksana; Crocker, Melissa K.; Sloan, Jennifer L.; Koutsoukos, Stefanos A.; Wang, Cindy; Ktena, Yiouli P.; Mendelson, Sophia; Pass, Alexandra R.; Zerfas, Patricia M.; Hoffmann, Victoria; Vernon, Hilary J.; Fletcher, Laura A.; Reynolds, James C.; Tsokos, Maria G.; Stratakis, Constantine A.; Voss, Stephan D.; Chen, Kong Y.; Brown, Rebecca J.; Hamosh, Ada; Berry, Gerard T.; Chen, Xiaoyuan Shawn; Yanovski, Jack A.; Venditti, Charles P.
Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白配体生殖系突变确定了T细胞中的信号交叉对话

Science
IF45.8
2024-01-010
OA
Hyoungjun Ham; Huie Jing; Ian T. Lamborn; Megan M. Kober; Alexey Koval; Yamina A. Berchiche; David Eric Anderson; Kirk M. Druey; Judith N. Mandl; Bertrand Isidor; Carlos R. Ferreira; Alexandra F. Freeman; Sundar Ganesan; Meliha Karsak; Peter Mustillo; Juliana Teo; Zarazuela Zolkipli‐Cunningham; Nicolas Chatron; François Lecoquierre; Andrew J. Oler; Jana Pachlopnik Schmid; Douglas Byron Kuhns; Xuehua Xu; Fabian H. Hauck; Waleed Al–Herz; Matias Wagner; Paulien A. Terhal; Mari Muurinen; Vincent Barlogis; Phillip Cruz; Jeffrey J. Danielson; Helen Stewart; Petra Loid; Sebastian Rading; Boris Keren; Rolph Pfundt; Kol A. Zarember; Katharina Vill; Lorraine Potocki; Kenneth N. Olivier; Gaëtan Lesca; Laurence Olivier Faivre; Melanie Wong; Anne Puel; Janet S. Chou; Maud Tusseau; Niki Maria Moutsopoulos; Helen F Matthews; Cas Simons; Ryan J. Taft; Ariane G. Soldatos; Etienne Masle‐Farquhar; Stefania Pittaluga; Robert Adrian Brink; Danielle L. Fink; Heidi H. Kong; Juraj Kabát; Woo Sung Kim; Tatjana Bierhals; Kazuyuki Meguro; Amy P. Hsu; Jingwen Gu; Jennifer L. Stoddard; Benito Baños-Piñero; Maria A. Slack; Giampaolo Trivellin; Benoît Mazel; Maarja Soomann; Samuel T. Li; Val J. Watts; Constantine A. Stratakis; Maria F. Rodriguez-Quevedo; Ange‐Line Bruel; Marita Lipsanen‐Nyman; Paul Saultier; Rashmi Jain; Daphné Lehalle; Daniel Torres; Kathleen E. Sullivan; S. Barbarot; Axel Dietmar Neu; Yannis Duffourd; Morgan N. Similuk; Kirsty M. McWalter; Pierre Blanc; Stéphane Bezieau; Tian Jin; Raif S. Geha; Jean‐Laurent Casanova; Outi Mäkitie; Christian Kubisch; Patrick Edery; John Christodoulou; Ronald N. Germain; Christopher Carl Goodnow; Thomas P. Sakmar; Daniel D. Billadeau; Sébastien Küry; Vladimir L. Katanaev; Yu Zhang; Michael J. Lenardo; Helen C. Su

研究方向

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F
Fábio R. Faucz
H 指数:39论文数:261被引数:5,682
M
Maya Lodish
H 指数:47论文数:227被引数:8,022
J
Jérôme Bertherat
H 指数:105论文数:1,064被引数:3.7万
A
Anélia Horvath
H 指数:40论文数:238被引数:5,881
M
Maria Nesterova
H 指数:34论文数:115被引数:3,588
G
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H 指数:33论文数:139被引数:3,625
M
Meg Keil
H 指数:19论文数:92被引数:1,947
M
Margaret F. Keil
H 指数:36论文数:111被引数:4,550
P
Paraskevi Xekouki
H 指数:26论文数:140被引数:3,249
A
Annabel Berthon
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