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C

Carlos R. Ferreira

national institutes of health
H指数:41
被引数:6,430

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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework

基于ClinGen注释框架的证据支持性骨骼疾病相关基因分类

JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2025-12-010
PRE
Webb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R.
Ocular findings in Jansen metaphyseal chondrodysplasia
JBMR PLUS
IF2.4
2024-07-122
OA
Obiezu, Fiona; Costa, M. Teresa Magone De Quadros; Huryn, Laryssa A.; Pan, Kristen; Almpani, Konstantinia; Ninan, Anisha; Roszko, Kelly L.; Weinstein, Lee S.; Gafni, Rachel, I; Ferreira, Carlos R.; Lee, Janice; Collins, Michael T.; Jha, Smita
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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W
William A. Gahl
H 指数:104论文数:1,264被引数:3.9万
N
Nenad Blau
H 指数:75论文数:704被引数:2.3万
L
Lynne A. Wolfe
H 指数:47论文数:185被引数:7,062
R
Rachel I. Gafni
H 指数:41论文数:140被引数:5,681
M
May Christine V. Malicdan
H 指数:50论文数:328被引数:8,694
D
Demetrios T. Braddock
H 指数:29论文数:102被引数:4,140
T
Thomas O. Carpenter
H 指数:58论文数:274被引数:1.1万
E
Ellen F. Macnamara
H 指数:36论文数:158被引数:3,774
S
Seema Kapoor
H 指数:23论文数:262被引数:2,029
M
Michael T. Collins
H 指数:71论文数:342被引数:1.5万