Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jonas A Gustafson"'
Publikováno v:
PLoS ONE, Vol 14, Iss 8, p e0221402 (2019)
Craniosynostosis is the premature fusion of the sutures of the calvaria and is principally designated as being either syndromic (demonstrating characteristic extracranial malformations) or non-syndromic. While many forms of syndromic craniosynostosis
Externí odkaz:
https://doaj.org/article/b02340ee93514475a75dbfc32fec908e
Autor:
Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101833- (2024)
Purpose: Rapid genetic testing in the critical care setting may guide diagnostic evaluation, direct therapies, and help families and care providers make informed decisions about goals of care. We tested whether a simplified DNA extraction and library
Externí odkaz:
https://doaj.org/article/6d44b504cf61496087437a8f47863416
Autor:
Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF
Externí odkaz:
https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
Autor:
Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)
Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic
Autor:
Samantha Lapehn, Jonas A. Gustafson, Andrew E. Timms, Michael L. Cunningham, Alison G. Paquette
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5353
Craniosynostosis is a birth defect where calvarial sutures close prematurely, as part of a genetic syndrome or independently, with unknown cause. This study aimed to identify differences in gene expression in primary calvarial cell lines derived from
Autor:
Simon J. McGowan, Jenny Morton, Eduardo Calpena, David W. Johnson, Richard P. Lifton, Pascal Maire, Andrew O.M. Wilkie, Stephen R.F. Twigg, Michael L. Cunningham, Rodrigo Atique, Andrew T. Timberlake, Jonas A Gustafson, Steven A. Wall, Maud Wurmser, Débora Romeo Bertola, Maria Rita Passos-Bueno
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics
BackgroundPathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported.MethodsWe investigated probands with craniosynostosis of unknown cause usin
Autor:
Milagros M. Dueñas-Roque, Casey Griffin, Leanne Magee, Cheryl A Wise, Andrew T. Timberlake, Jennie Slee, Harry Pachajoa, Rhonda E. Schnur, Carrie L. Heike, Jean Pierre Saint-Jeannet, David A. Staffenberg, Natalya Karp, Gloria Liliana Porras-Hurtado, Ignacio Zarante, Steven L. Singer, Jonas A Gustafson, Daniela V Luquetti, Mark R. Davis, Paula Hurtado-Villa, Sureni V Mullegama, Soghra J Doust, David Chitayat, Alexis L. Johns, Anne V. Hing, Amelia F. Drake, Nigel G. Laing, Andrew E. Timms, Michael L. Cunningham, Jack Goldblatt
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Paediatrics Publications
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Paediatrics Publications
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a hi
Autor:
Harry Pachajoa, Paula Hurtado-Villa, Paola Ayala-Ramírez, Natalia Jimenez, Andrew E. Timms, Carrie L. Heike, Lina Maria Ibañez, Milagros M. Dueñas-Roque, Gloria Liliana Porras-Hurtado, Daniela V Luquetti, Jonas A Gustafson, Ignacio Zarante
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral
Autor:
Jonas A Gustafson, Richard G. Ellenbogen, Michael L. Cunningham, Richard A. Hopper, Joseph S. Gruss, VT Fok, Craig B. Birgfeld, Smyth, Andrew E. Timms, Christine M. Clarke, Amy S. Lee, CD Frazar, Joshua D. Smith
Publikováno v:
American journal of medical genetics. Part A. 176(11)
We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identif
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221402 (2019)
PLoS ONE, Vol 14, Iss 8, p e0221402 (2019)
Craniosynostosis is the premature fusion of the sutures of the calvaria and is principally designated as being either syndromic (demonstrating characteristic extracranial malformations) or non-syndromic. While many forms of syndromic craniosynostosis