A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.
Published in HGG advances (01.01.2025)
Published in HGG advances (01.01.2025)
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Journal Article
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Al Amrani, Fatema, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.
Published in HGG advances (13.07.2023)
Published in HGG advances (13.07.2023)
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Journal Article
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Chong, Jessica X, Childers, Matthew Carter, Marvin, Colby T, Marcello, Anthony J, Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J, Amrani, Fatema Al, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S, Buckingham, Kati J, Shively, Kathryn M, Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J
Published in medRxiv : the preprint server for health sciences (09.03.2023)
Published in medRxiv : the preprint server for health sciences (09.03.2023)
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Journal Article
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Danis, Daniel, Bamshad, Michael J, Bridges, Yasemin, Cacheiro, Pilar, Carmody, Leigh C, Chong, Jessica X, Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J, Graefe, Adam S L, Groza, Tudor, Jacobsen, Julius O B, Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S, Marcello, Anthony J, Mattina, Teresa, Mungall, Christopher J, Munoz-Torres, Monica C, Reese, Justin T, Rehburg, Filip, Reis, Bárbara C S, Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F, Zocche, David, Haendel, Melissa A, Robinson, Peter N
Published in medRxiv : the preprint server for health sciences (29.05.2024)
Published in medRxiv : the preprint server for health sciences (29.05.2024)
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Journal Article