Genetic advances in craniosynostosis
Lattanzi, Wanda, Barba, Marta, Di Pietro, Lorena, Boyadjiev, Simeon A.
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver, Bohlander, Stefan K., Kim, Jinoh, Netzer, Christian
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Identification of differentially expressed proteins between fused and open sutures in sagittal nonsyndromic craniosynostosis during suture development by quantitative proteomic analysis
Bala, Krithi, Cuellar, Araceli, Herren, Anthony W., Boyadjiev, Simeon A.
Published in Proteomics (Weinheim) (01.05.2021)
Published in Proteomics (Weinheim) (01.05.2021)
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Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial
Schiffmann, Raphael, Goker‐Alpan, Ozlem, Holida, Myrl, Giraldo, Pilar, Barisoni, Laura, Colvin, Robert B., Jennette, Charles J., Maegawa, Gustavo, Boyadjiev, Simeon A., Gonzalez, Derlis, Nicholls, Kathy, Tuffaha, Ahmad, Atta, Mohamed G., Rup, Bonita, Charney, Martha R., Paz, Alona, Szlaifer, Mali, Alon, Sari, Brill‐Almon, Einat, Chertkoff, Raul, Hughes, Derralynn
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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The genetic overlap between osteoporosis and craniosynostosis
Kague, Erika, Medina-Gomez, Carolina, Boyadjiev, Simeon A., Rivadeneira, Fernando
Published in Frontiers in endocrinology (Lausanne) (26.09.2022)
Published in Frontiers in endocrinology (Lausanne) (26.09.2022)
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Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum
Lu, Chung‐Ling, Ortmeier, Steven, Brudvig, Jon, Moretti, Tamara, Cain, Jacob, Boyadjiev, Simeon A., Weimer, Jill M., Kim, Jinoh
Published in Traffic (Copenhagen, Denmark) (01.01.2022)
Published in Traffic (Copenhagen, Denmark) (01.01.2022)
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BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche
Barba, Marta, Di Pietro, Lorena, Massimi, Luca, Geloso, Maria Concetta, Frassanito, Paolo, Caldarelli, Massimo, Michetti, Fabrizio, Della Longa, Stefano, Romitti, Paul A., Di Rocco, Concezio, Arcovito, Alessandro, Parolini, Ornella, Tamburrini, Gianpiero, Bernardini, Camilla, Boyadjiev, Simeon A., Lattanzi, Wanda
Published in Bone (New York, N.Y.) (01.07.2018)
Published in Bone (New York, N.Y.) (01.07.2018)
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Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Goovaerts, Seppe, Hoskens, Hanne, Eller, Ryan J, Herrick, Noah, Musolf, Anthony M, Justice, Cristina M, Yuan, Meng, Naqvi, Sahin, Lee, Myoung Keun, Vandermeulen, Dirk, Szabo-Rogers, Heather L, Romitti, Paul A, Boyadjiev, Simeon A, Marazita, Mary L, Shaffer, John R, Shriver, Mark D, Wysocka, Joanna, Walsh, Susan, Weinberg, Seth M, Claes, Peter
Published in Nature communications (16.11.2023)
Published in Nature communications (16.11.2023)
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A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
JUSTICE, Cristina M, YAGNIK, Garima, KIMONIS, Virginia, ROSCIOLI, Tony, WALL, Steven A, WILKIE, Andrew O. M, STOLER, Joan, RICHTSMEIER, Joan T, HEUZE, Yann, SANCHEZ-LARA, Pedro A, BUCKLEY, Michael F, DRUSCHEL, Charlotte M, KIM, Yoonhee, MILLS, James L, CAGGANA, Michele, ROMITTI, Paul A, KAY, Denise M, SENDERS, Craig, TAUB, Peter J, KLEIN, Ophir D, BOGGAN, James, ZWIENENBERG-LEE, Marike, NAYDENOV, Cyrill, PETER, Inga, KIM, Jinoh, WILSON, Alexander F, BOYADJIEV, Simeon A, WANG JABS, Ethylin, ERAZO, Monica, XIAOQIAN YE, AINEHSAZAN, Edmond, LISONG SHI, CUNNINGHAM, Michael L
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex
Jelin, Angie C., Sopko, Nikolai, Sobreira, Nara, Boyadjiev, Simeon A., Wohler, Elizabeth, Morrill, Christian, Witmer, P. Dane, Michaud, Jason, Valle, David, Gearhart, John, Dicarlo, Heather
Published in Frontiers in genetics (05.06.2024)
Published in Frontiers in genetics (05.06.2024)
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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Musolf, Anthony M, Justice, Cristina M, Erdogan-Yildirim, Zeynep, Goovaerts, Seppe, Cuellar, Araceli, Shaffer, John R, Marazita, Mary L, Claes, Peter, Weinberg, Seth M, Li, Jae, Senders, Craig, Zwienenberg, Marike, Simeonov, Emil, Kaneva, Radka, Roscioli, Tony, Di Pietro, Lorena, Barba, Marta, Lattanzi, Wanda, Cunningham, Michael L, Romitti, Paul A, Boyadjiev, Simeon A
Published in Scientific reports (12.04.2024)
Published in Scientific reports (12.04.2024)
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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
Boyadjiev, Simeon A, Fromme, J Christopher, Ben, Jin, Chong, Samuel S, Nauta, Christopher, Hur, David J, Zhang, George, Hamamoto, Susan, Schekman, Randy, Ravazzola, Mariella, Orci, Lelio, Eyaid, Wafaa
Published in Nature genetics (01.10.2006)
Published in Nature genetics (01.10.2006)
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Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis
Cuellar, Araceli, Bala, Krithi, Di Pietro, Lorena, Barba, Marta, Yagnik, Garima, Liu, Jia Lie, Stevens, Christina, Hur, David J., Ingersoll, Roxann G., Justice, Cristina M., Drissi, Hicham, Kim, Jinoh, Lattanzi, Wanda, Boyadjiev, Simeon A.
Published in Bone (New York, N.Y.) (01.08.2020)
Published in Bone (New York, N.Y.) (01.08.2020)
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Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
Vissers, Lisenka E L M, Cox, Timothy C, Maga, A Murat, Short, Kieran M, Wiradjaja, Fenny, Janssen, Irene M, Jehee, Fernanda, Bertola, Debora, Liu, Jia, Yagnik, Garima, Sekiguchi, Kiyotoshi, Kiyozumi, Daiji, van Bokhoven, Hans, Marcelis, Carlo, Cunningham, Michael L, Anderson, Peter J, Boyadjiev, Simeon A, Passos-Bueno, Maria Rita, Veltman, Joris A, Smyth, Ian, Buckley, Michael F, Roscioli, Tony
Published in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
Paznekas, William A, Karczeski, Barbara, Vermeer, Sascha, Lowry, R. Brian, Delatycki, Martin, Laurence, Faivre, Koivisto, Pasi A, Van Maldergem, Lionel, Boyadjiev, Simeon A, Bodurtha, Joann N, Wang Jabs, Ethylin
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Web Resource
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M A, Koelling, Nils, McGowan, Simon J, Phipps, Julie M, Balasubramanian, Meena, Cunningham, Michael L, Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E V, Shears, Deborah, Weber, Astrid, Wilson, Louise C, Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A, Twigg, Stephen R F, Mathijssen, Irene M J, Boardman-Pretty, Freya, Boyadjiev, Simeon A, Wilkie, Andrew O M
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Journal Article
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B, Enns, Gregory M, Jones, Simon A, Kane, John P, Stock, Eveline O, Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S, Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A, Sharma, Reena, Twelves, Chris, Whitley, Chester B, Quinn, Anthony G
Published in Journal of hepatology (01.11.2014)
Published in Journal of hepatology (01.11.2014)
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Journal Article
The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly
Fromme, J. Christopher, Ravazzola, Mariella, Hamamoto, Susan, Al-Balwi, Mohammed, Eyaid, Wafaa, Boyadjiev, Simeon A., Cosson, Pierre, Schekman, Randy, Orci, Lelio
Published in Developmental cell (01.11.2007)
Published in Developmental cell (01.11.2007)
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