Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
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Author / Creator
Castilla-Vallmanya, Laura , Selmer, Kaja K. , Dimartino, Clémantine , Rabionet, Raquel , Blanco-Sánchez, Bernardo , Yang, Sandra , Reijnders, Margot R. F. , van Essen, Antonie J. , Oufadem, Myriam , Vigeland, Magnus D. , Stadheim, Barbro , Houge, Gunnar , Cox, Helen , Kingston, Helen , Clayton-Smith, Jill , Innis, Jeffrey W. , Iascone, Maria , Cereda, Anna , Gabbiadini, Sara , Chung, Wendy K. , Sanders, Victoria , Charrow, Joel , Bryant, Emily , Millichap, John , Vitobello, Antonio , Thauvin, Christel , Mau-Them, Frederic Tran , Faivre, Laurence , Lesca, Gaetan , Labalme, Audrey , Rougeot, Christelle , Chatron, Nicolas , Sanlaville, Damien , Christensen, Katherine M. , Kirby, Amelia , Lewandowski, Raymond , Gannaway, Rachel , Aly, Maha , Lehman, Anna , Clarke, Lorne , Graul-Neumann, Luitgard , Zweier, Christiane , Lessel, Davor , Lozic, Bernarda , Aukrust, Ingvild , Peretz, Ryan , Stratton, Robert , Smol, Thomas , Dieux-Coëslier, Anne , Meira, Joanna , Wohler, Elizabeth , Sobreira, Nara , Beaver, Erin M. , Heeley, Jennifer , Briere, Lauren C. , High, Frances A. , Sweetser, David A. , Walker, Melissa A. , Keegan, Catherine E. , Jayakar, Parul , Shinawi, Marwan , Kerstjens-Frederikse, Wilhelmina S. , Earl, Dawn L. , Siu, Victoria M. , Reesor, Emma , Yao, Tony , Hegele, Robert A. , Vaske, Olena M. , Rego, Shannon , Shapiro, Kevin A. , Wong, Brian , Gambello, Michael J. , McDonald, Marie , Karlowicz, Danielle , Colombo, Roberto , Serretti, Alessandro , Pais, Lynn , O’Donnell-Luria, Anne , Wray, Alison , Sadedin, Simon , Chong, Belinda , Tan, Tiong Y. , Christodoulou, John , White, Susan M. , Slavotinek, Anne , Barbouth, Deborah , Morel Swols, Dayna , Parisot, Mélanie , Bole-Feysot, Christine , Nitschké, Patrick , Pingault, Véronique , Munnich, Arnold , Cho, Megan T. , Cormier-Daire, Valérie , Balcells, Susanna , Lyonnet, Stanislas , Grinberg, Daniel , Amiel, Jeanne , Urreizti, Roser , Gordon, Christopher T. and Undiagnosed Diseases Network, Care4Rare Canada Consortium
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Somatic variants in tumor necrosis factor receptor–associated factor 7 (
TRAF7
) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with
TRAF7
germline...
Alternative Titles
Full title
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Authors, Artists and Contributors
Author / Creator
Selmer, Kaja K.
Dimartino, Clémantine
Rabionet, Raquel
Blanco-Sánchez, Bernardo
Yang, Sandra
Reijnders, Margot R. F.
van Essen, Antonie J.
Oufadem, Myriam
Vigeland, Magnus D.
Stadheim, Barbro
Houge, Gunnar
Cox, Helen
Kingston, Helen
Clayton-Smith, Jill
Innis, Jeffrey W.
Iascone, Maria
Cereda, Anna
Gabbiadini, Sara
Chung, Wendy K.
Sanders, Victoria
Charrow, Joel
Bryant, Emily
Millichap, John
Vitobello, Antonio
Thauvin, Christel
Mau-Them, Frederic Tran
Faivre, Laurence
Lesca, Gaetan
Labalme, Audrey
Rougeot, Christelle
Chatron, Nicolas
Sanlaville, Damien
Christensen, Katherine M.
Kirby, Amelia
Lewandowski, Raymond
Gannaway, Rachel
Aly, Maha
Lehman, Anna
Clarke, Lorne
Graul-Neumann, Luitgard
Zweier, Christiane
Lessel, Davor
Lozic, Bernarda
Aukrust, Ingvild
Peretz, Ryan
Stratton, Robert
Smol, Thomas
Dieux-Coëslier, Anne
Meira, Joanna
Wohler, Elizabeth
Sobreira, Nara
Beaver, Erin M.
Heeley, Jennifer
Briere, Lauren C.
High, Frances A.
Sweetser, David A.
Walker, Melissa A.
Keegan, Catherine E.
Jayakar, Parul
Shinawi, Marwan
Kerstjens-Frederikse, Wilhelmina S.
Earl, Dawn L.
Siu, Victoria M.
Reesor, Emma
Yao, Tony
Hegele, Robert A.
Vaske, Olena M.
Rego, Shannon
Shapiro, Kevin A.
Wong, Brian
Gambello, Michael J.
McDonald, Marie
Karlowicz, Danielle
Colombo, Roberto
Serretti, Alessandro
Pais, Lynn
O’Donnell-Luria, Anne
Wray, Alison
Sadedin, Simon
Chong, Belinda
Tan, Tiong Y.
Christodoulou, John
White, Susan M.
Slavotinek, Anne
Barbouth, Deborah
Morel Swols, Dayna
Parisot, Mélanie
Bole-Feysot, Christine
Nitschké, Patrick
Pingault, Véronique
Munnich, Arnold
Cho, Megan T.
Cormier-Daire, Valérie
Balcells, Susanna
Lyonnet, Stanislas
Grinberg, Daniel
Amiel, Jeanne
Urreizti, Roser
Gordon, Christopher T.
Undiagnosed Diseases Network, Care4Rare Canada Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8093014
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8093014
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0792-7
