Chiu Annie T.G., Zhu Lixing, Gary T.K. Moka, Leung G K.C. , Chowa, C.B. Chung Brian H.Y. (2016) Eur J Med Genet. 2016 Nov;59(11):573-576. doi: 10.1016/j.ejmg.2016.10.001
S. Douzgou, S. Banka The face of the developmental disorders of chromatin remodeling. P11.026B Presented at the European Society of Human Genetics (ESHG) 2016 Annual Meeting in Barcelona Spain.
M. A. Mensah, N. Hajjir, N. Ehmke, F. Alisch, C. Ott, R. Flöttmann, M. Spielmann, A. Thorwarth, D. Korinth, P. N. Robinson, S. Köhler, T. Zemojtel, P. Lorini, K. Dathe, S. Dölken, M. Schülke-Gerstenfeld, S. Mundlos, L. Graul-Neumann, D. Horn, P. M. Krawitz Image analysis of patients with dysmorphic facial features boosts diagnostic yield in […]
N. A. Varga, P. Balicza, K. Pentelenyi, H. Piko, M. Szegedi, V. Karcagi, M. Molnar; The use of automated facial analysis in the clinical diagnostic of autism spectrum disorders (ASD). P14.005A Presented at the European Society of Human Genetics (ESHG) 2016 Annual Meeting in Barcelona Spain.
A. B. Hamid Al-Rikabi, N. Fleischer, M. Rinholm, S. St-Pierre, I. Schreyer, T. Liehr; Phenotyping Emanuel Syndrome using computer-aided facial dysmorphology analysis of 2D photos. P14.030B. Presented at the European Society of Human Genetics (ESHG) 2016 Annual Meeting in Barcelona Spain.
Kayembe Kitenge T, Kasole Lubala T, Mbuyi-Musanzayi S, Kabamba Ngombe L, Katshiez Nawej C, Musa Obadia P, Banza Lubaba Nkulu C, Nemery B, Devriendt K., Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. Clin Dysmorphol. 2016 Apr 15
Gripp KW, Baker L, Telegrafi A, Monaghan KG. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. Am J Med Genet A. 2016 Apr 26. doi: 10.1002/ajmg.a.37672 Abstract The genetic basis of numerous intellectual disability (ID) syndromes has […]
Aimé Lumaka, Rita Lukoo, Gerrye Mubungu, Paul Lumbala, Gloire Mbayabo, Aimée Mupuala, Prosper Lukusa Tshilobo and Koenraad Devriendt, Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting. Clinical Case Reports 2016; 4(3): 294–297. Key Clinical Message Patients with Williams–Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on […]
Kershenovich, R., & Lumaka, A. Presented at the American College of Medical Genetics and Genomics (ACMG) 2016 Annual Meeting in Tampa Florida. Introduction: As computer-aided facial dysmorphology analysis technology becomes more frequent in the clinic, the issue of phenotypic syndrome variation based on ethnicity has been highlighted. In this study, we compare the ability of this […]
With the title of “Face2Gene Academy: Revue d’un nouvel outil en ligne de formation à la Dysmorphologie basé sur la communauté” this poster written by Prof. Lina Basel-Vanagaite is presented at the Annual French Meeting of Human Genetics in Lyon, France. The goal of this computer-aided, dysmorphology training tool is to train and test residents […]