Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration

Allison M. Brennan, Richard M. Pauli, Hajdu‐Cheney syndrome: Evolution of phenotype and clinical problems American Journal of Medical Genetics. ,vol. 100, pp. 292- 310 ,(2001) , 10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4

Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Ingo Ruczinski, Jacqueline B Hetmanski, Kung Yee Liang, Tao Wu, Tanda Murray, M Daniele Fallin, Richard A Redett, Gerald Raymond, Holger Schwender, Sheng-Chih Jin, Margaret E Cooper, Martine Dunnwald, Maria A Mansilla, Elizabeth Leslie, Stephen Bullard, Andrew C Lidral, Lina M Moreno, Renato Menezes, Alexandre R Vieira, Aline Petrin, Allen J Wilcox, Rolv T Lie, Ethylin W Jabs, Yah Huei Wu-Chou, Philip K Chen, Hong Wang, Xiaoqian Ye, Shangzhi Huang, Vincent Yeow, Samuel S Chong, Sun Ha Jee, Bing Shi, Kaare Christensen, Mads Melbye, Kimberly F Doheny, Elizabeth W Pugh, Hua Ling, Eduardo E Castilla, Andrew E Czeizel, Lian Ma, L Leigh Field, Lawrence Brody, Faith Pangilinan, James L Mills, Anne M Molloy, Peadar N Kirke, John M Scott, Mauricio Arcos-Burgos, Alan F Scott, None, A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 Nature Genetics. ,vol. 42, pp. 525- 529 ,(2010) , 10.1038/NG.580

Peter Hammond, Femke Hannes, Michael Suttie, Koen Devriendt, Joris Robert Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic McMullan, Sarah T South, John C Carey, Oliver Quarrell, Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome European Journal of Human Genetics. ,vol. 20, pp. 33- 40 ,(2012) , 10.1038/EJHG.2011.135

Elisabeth Mangold, Kerstin U Ludwig, Stefanie Birnbaum, Carlotta Baluardo, Melissa Ferrian, Stefan Herms, Heiko Reutter, Nilma Almeida de Assis, Taofik Al Chawa, Manuel Mattheisen, Michael Steffens, Sandra Barth, Nadine Kluck, Anna Paul, Jessica Becker, Carola Lauster, Gül Schmidt, Bert Braumann, Martin Scheer, Rudolf H Reich, Alexander Hemprich, Simone Pötzsch, Bettina Blaumeiser, Susanne Moebus, Michael Krawczak, Stefan Schreiber, Thomas Meitinger, Hans-Erich Wichmann, Regine P Steegers-Theunissen, Franz-Josef Kramer, Sven Cichon, Peter Propping, Thomas F Wienker, Michael Knapp, Michele Rubini, Peter A Mossey, Per Hoffmann, Markus M Nöthen, Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate Nature Genetics. ,vol. 42, pp. 24- 26 ,(2010) , 10.1038/NG.506

Berglind Johannsdottir, Freyr Thorarinsson, Arni Thordarson, Thordur Eydal Magnusson, Heritability of craniofacial characteristics between parents and offspring estimated from lateral cephalograms. American Journal of Orthodontics and Dentofacial Orthopedics. ,vol. 127, pp. 200- 207 ,(2005) , 10.1016/J.AJODO.2004.07.033

Ji Wan Park, Iain McIntosh, Jacqueline B Hetmanski, Ethylin Wang Jabs, Craig A Vander Kolk, Yah-Huei Wu-Chou, Philip K Chen, Samuel S Chong, Vincent Yeow, Sun Ha Jee, Beyoung Yun Park, M Daniele Fallin, Roxann Ingersoll, Alan F Scott, Terri H Beaty, Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations Genetics in Medicine. ,vol. 9, pp. 219- 227 ,(2007) , 10.1097/GIM.0B013E3180423CCA

Anna K. Coussens, Angela van Daal, Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape Genomics. ,vol. 85, pp. 563- 573 ,(2005) , 10.1016/J.YGENO.2005.02.002

SM Weinberg, SD Naidoo, KM Bardi, CA Brandon, K Neiswanger, JM Resick, RA Martin, ML Marazita, Face shape of unaffected parents with cleft affected offspring: combining three‐dimensional surface imaging and geometric morphometrics Orthodontics & Craniofacial Research. ,vol. 12, pp. 271- 281 ,(2009) , 10.1111/J.1601-6343.2009.01462.X

Yuna C. Larrabee, Andrew C. Birkeland, David T. Kent, Carlos Flores, Gloria H. Su, Joseph H. Lee, Joseph Haddad, Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population. Laryngoscope. ,vol. 121, pp. 1756- 1759 ,(2011) , 10.1002/LARY.21870

Yoko Tomoyasu, Tetsutaro Yamaguchi, Atsushi Tajima, Toshiaki Nakajima, Ituro Inoue, Koutaro Maki, Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population American Journal of Orthodontics and Dentofacial Orthopedics. ,vol. 136, pp. 536- 541 ,(2009) , 10.1016/J.AJODO.2007.10.054