News & Publications

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 […]

Lina Basel-Vanagaite, Lior Wolf, Melanie Orin, ,Lidia Larizza, Cristina Gervasini, Ian D. Krantz, ,Matthew A. Deardoff: DOI: 10.1111/cge.12716 Clinical Genetics 2015 Abstract Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various measurements […]

Y.Lacassie; Rev. Med.Clin.Condes – 2015:26 (4) 452-457 Abstract Dysmorphology refers to the study of patients with congenital malformations. However, dysmorphology not only includes the study of birth defects but also the study of patients with other anomalies making him/her look different. In this article we review qualitative abnormalities, such us malformations, deformations, disruptions and displasias […]

During the ASGH15 Conference in Baltimore, MD, USA.L. this poster was presented by Basel-Vanagaite , S. Lyonnet, V. Cormier-Daire, M. Rio, J. Amiel, L. Wolf. 331 frontal images of Caucasian children with 43 different molecularly confirmed syndromes were analyzed. The molecularly confirmed diagnosis was listed in the first 20 matches for 89% of the cases, […]

During the E.C.E.M.C conference a poster was presented by Dr. Antonio Antonio Martínez Carrascal from Requena Hospital in Valencia. This conference is the annual meeting of the  Spanish Group for the Registry and Research of Congenital Malformations and took place in Avilés, Spain on October 15-17, 2015. The poster describes Face2Gene and presents Dr.Martínez Carrascal two-fold interest in […]

Cox, T. C. (2015), Utility and limitations of animal models for the functional validation of human sequence variants. Molecular Genetics & Genomic Medicine. doi: 10.1002/mgg3.167 Abstract One of the biggest challenges facing us in this new age of genomic medicine is the functional validation of variants identified in exome / whole genome sequencing approaches. This article […]

Manousaki D, Allanson J, Wolf L, Deal C. 2015. Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case-control study. Am J Med Genet Part A167A:1525–1533. Abstract Congenital Hypopituitarism (CH) has traditionally been associated with specific facial phenotypes subsumed under the term midface retrusion, based on cephalometric studies. In this […]

During the European Meeting for Human Genetics, Assoc. Prof.  Ibrahim Akalin, MD and Dr. Sarenur Yilmaz, MD presented a poster entitled “Efficiency of Computer-Aided Facial Dysmorphology Analysis in the Medical Genetics Clinic”. 12 patients who were affected by 8 syndromes were analyzed by the FDNA technology . When the correct syndrome was listed in the […]

This year at ACMG Dr. Chad Haldeman-Englert and Prof Lior Wolf presented a poster entitled “Evaluating the Benefit and Efficiency of Using Computer-Aided Facial Dysmorphology Novel Analysis in the Clinical Setting”. 31 cases were collected through Face2Gene, all of which had a molecular diagnosis indication and were analyzed with the Facial Dysmorphology Novel Analysis technology. In […]