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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder Mahdi, Soha S.; Caldeira, Eduarda; Matthews, Harold; Vanneste, Michiel; Nauwelaers, Nele; Yuan, Meng; Bouritsas, Giorgos; Baynam, Gareth S.; Hammond, Peter; Spritz, Richard; Klein, Ophir D.; Bronstein, Michael; Hallgrimsson, Benedikt; Peeters, Hilde; Claes, Peter 分享 收藏
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population Vanneste, Michiel; Hoskens, Hanne; Goovaerts, Seppe; Matthews, Harold; Devine, Jay; Aponte, Jose D.; Cole, Joanne; Shriver, Mark; Marazita, Mary L.; Weinberg, Seth M.; Walsh, Susan; Richmond, Stephen; Klein, Ophir D.; Spritz, Richard A.; Peeters, Hilde; Hallgrimsson, Benedikt; Claes, Peter 分享 收藏
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A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis Mohammed, Jaaved; Arora, Neha; Matthews, Harold S.; Hansen, Karissa; Bader, Maram; Walsh, Susan; Shaffer, John R.; Weinberg, Seth M.; Swigut, Tomek; Claes, Peter; Selleri, Licia; Wysocka, Joanna; Wilkie, Andrew 分享 收藏
An interactive atlas of three-dimensional syndromic facial morphology Aponte, J. David; Bannister, Jordan J.; Hoskens, Hanne; Matthews, Harold; Katsura, Kaitlin; Da Silva, Cassidy; Cruz, Tim; Pilz, Julie H. M.; Spritz, Richard A.; Forkert, Nils D.; Claes, Peter; Bernier, Francois P.; Klein, Ophir D.; Katz, David C.; Hallgrimsson, Benedikt 分享 收藏
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Precise modulation of transcription factor levels identifies features underlying dosage sensitivity 转录因子水平的精确调节确定潜在的剂量敏感性特征 Naqvi, Sahin; Kim, Seungsoo; Hoskens, Hanne; Matthews, Harold S. S.; Spritz, Richard A. A.; Klein, Ophir D. D.; Hallgrimsson, Benedikt; Swigut, Tomek; Claes, Peter; Pritchard, Jonathan K. K.; Wysocka, Joanna 分享 收藏
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Exploring regional aspects of 3D facial variation within European individuals Wilke, Franziska; Herrick, Noah; Matthews, Harold; Hoskens, Hanne; Singh, Sylvia; Shaffer, John R.; Weinberg, Seth M.; Shriver, Mark D.; Claes, Peter; Walsh, Susan 分享 收藏
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Refining nosology by modelling variation among facial phenotypes: the RASopathies Matthews, Harold; Vanneste, Michiel; Katsura, Kaitlin; Aponte, David; Patton, Michael; Hammond, Peter; Baynam, Gareth; Spritz, Richard; Klein, Ophir D.; Hallgrimsson, Benedikt; Peeters, Hilde; Claes, Peter 分享 收藏
Multi-Scale Part-Based Syndrome Classification of 3D Facial Images Mahdi, Soha Sadat; Matthews, Harold; Nauwelaers, Nele; Vanneste, Michiel; Gong, Shunwang; Bouritsas, Giorgos; Baynam, Gareth S.; Hammond, Peter; Spritz, Richard; Klein, Ophir D.; Hallgrimsson, Benedikt; Peeters, Hilde; Bronstein, Michael; Claes, Peter 分享 收藏
Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations 东非人面部特征的基因组扫描和跨人群比较揭示了新的关联 Liu, Chenxing; Lee, Myoung Keun; Naqvi, Sahin; Hoskens, Hanne; Liu, Dongjing; White, Julie D.; Indencleef, Karlijne; Matthews, Harold; Eller, Ryan J.; Li, Jiarui; Mohammed, Jaaved; Swigut, Tomek; Richmond, Stephen; Manyama, Mange; Hallgrimsson, Benedikt; Spritz, Richard A.; Feingold, Eleanor; Marazita, Mary L.; Wysocka, Joanna; Walsh, Susan; Shriver, Mark D.; Claes, Peter; Weinberg, Seth M.; Shaffer, John R. 分享 收藏
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism 用于临床面部评估和面部畸形客观描述的大规模开源三维生长曲线 Matthews, Harold S.; Palmer, Richard L.; Baynam, Gareth S.; Quarrell, Oliver W.; Klein, Ophir D.; Spritz, Richard A.; Hennekam, Raoul C.; Walsh, Susan; Shriver, Mark; Weinberg, Seth M.; Hallgrimsson, Benedikt; Hammond, Peter; Penington, Anthony J.; Peeters, Hilde; Claes, Peter D. 分享 收藏
3D analysis of facial morphology in Dutch children with cancer 荷兰癌症儿童面部形态的3D分析 Postema, Floor A. M.; Matthews, Harold; Hopman, Saskia M. J.; Merks, Johannes H. M.; Suttie, Michael; Hoskens, Hanne; Peeters, Hilde; Hennekam, Raoul C.; Claes, Peter; Hammond, Peter 分享 收藏