Zobrazeno 1 - 10
of 244
pro vyhledávání: '"Peter, Claes"'
Autor:
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D. Aponte, Joanne Cole, Mark Shriver, Mary L. Marazita, Seth M. Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectru
Externí odkaz:
https://doaj.org/article/53249a4e52054d56af916527ff5bdc39
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Automatic dense 3D surface registration is a powerful technique for comprehensive 3D shape analysis that has found a successful application in human craniofacial morphology research, particularly within the mandibular and cranial vault regio
Externí odkaz:
https://doaj.org/article/973b8a5e1763463ba523425d13f8f72d
Autor:
Anthony M. Musolf, Cristina M. Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R. Shaffer, Mary L. Marazita, Peter Claes, Seth M. Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L. Cunningham, Paul A. Romitti, Simeon A. Boyadjiev
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS p
Externí odkaz:
https://doaj.org/article/f648374bc2b0416ab9f8c6846eee6350
Autor:
Seppe Goovaerts, Hanne Hoskens, Ryan J. Eller, Noah Herrick, Anthony M. Musolf, Cristina M. Justice, Meng Yuan, Sahin Naqvi, Myoung Keun Lee, Dirk Vandermeulen, Heather L. Szabo-Rogers, Paul A. Romitti, Simeon A. Boyadjiev, Mary L. Marazita, John R. Shaffer, Mark D. Shriver, Joanna Wysocka, Susan Walsh, Seth M. Weinberg, Peter Claes
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D
Externí odkaz:
https://doaj.org/article/69a3d3cc3f27415f9870d75eead756a6
Autor:
Jaaved Mohammed, Neha Arora, Harold S Matthews, Karissa Hansen, Maram Bader, Susan Walsh, John R Shaffer, Seth M Weinberg, Tomek Swigut, Peter Claes, Licia Selleri, Joanna Wysocka
Publikováno v:
eLife, Vol 13 (2024)
Genome-wide association studies (GWAS) identified thousands of genetic variants linked to phenotypic traits and disease risk. However, mechanistic understanding of how GWAS variants influence complex morphological traits and can, in certain cases, si
Externí odkaz:
https://doaj.org/article/2cc1a2d4cf454d649f23f3d5f8c28b50
Autor:
Zuqi Li, Federico Melograna, Hanne Hoskens, Diane Duroux, Mary L. Marazita, Susan Walsh, Seth M. Weinberg, Mark D. Shriver, Bertram Müller-Myhsok, Peter Claes, Kristel Van Steen
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Multi-view data offer advantages over single-view data for characterizing individuals, which is crucial in precision medicine toward personalized prevention, diagnosis, or treatment follow-up.Methods: Here, we develop a network-guided m
Externí odkaz:
https://doaj.org/article/01f1dc8fd9614fd58c2406d60526e091
Autor:
Franziska Wilke, Noah Herrick, Harold Matthews, Hanne Hoskens, Sylvia Singh, John R. Shaffer, Seth M. Weinberg, Mark D. Shriver, Peter Claes, Susan Walsh
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Facial ancestry can be described as variation that exists in facial features that are shared amongst members of a population due to environmental and genetic effects. Even within Europe, faces vary among subregions and may lead to confoundin
Externí odkaz:
https://doaj.org/article/563b8273693847c8a42465d2fc1667be
Autor:
Meng Yuan, Hanne Hoskens, Seppe Goovaerts, Noah Herrick, Mark D. Shriver, Susan Walsh, Peter Claes
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Analysis of population structure and genomic ancestry remains an important topic in human genetics and bioinformatics. Commonly used methods require high-quality genotype data to ensure accurate inference. However, in practice, laboratory ar
Externí odkaz:
https://doaj.org/article/b9c606ff521942aab5d096ec6cd8f4b5
Autor:
Soha Sadat Mahdi, Harold Matthews, Nele Nauwelaers, Michiel Vanneste, Shunwang Gong, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Benedikt Hallgrimsson, Hilde Peeters, Michael Bronstein, Peter Claes
Publikováno v:
IEEE Access, Vol 10, Pp 23450-23462 (2022)
Identification and delineation of craniofacial characteristics support the clinical and molecular diagnosis of genetic syndromes. Deep learning (DL) frameworks for syndrome identification from 2D facial images are trained on large clinical datasets u
Externí odkaz:
https://doaj.org/article/be55dad4767447a29263c8bcfe7746a7
Autor:
Dongjing Liu, Nora Alhazmi, Harold Matthews, Myoung Keun Lee, Jiarui Li, Jacqueline T. Hecht, George L. Wehby, Lina M. Moreno, Carrie L. Heike, Jasmien Roosenboom, Eleanor Feingold, Mary L. Marazita, Peter Claes, Eric C. Liao, Seth M. Weinberg, John R. Shaffer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF
Externí odkaz:
https://doaj.org/article/1f6e2e4e71fb416a9663c9577931071c