Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

[1]  I. Krantz,et al.  Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis , 2016, Clinical genetics.

[2]  Karynne E. Patterson,et al.  Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features , 2015, Genetics in Medicine.

[3]  Orion J. Buske,et al.  The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery , 2015, Human mutation.

[4]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[5]  Michael Brudno,et al.  PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases , 2015, Human mutation.

[6]  Véronique Geoffroy,et al.  Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing , 2014, Journal of Medical Genetics.

[7]  Andrew Zisserman,et al.  Diagnostically relevant facial gestalt information from ordinary photos , 2014, eLife.

[8]  L. Vissers,et al.  Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.

[9]  Caroline F. Wright,et al.  DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation , 2013, Nucleic Acids Res..

[10]  K. Boycott,et al.  Rare-disease genetics in the era of next-generation sequencing: discovery to translation , 2013, Nature Reviews Genetics.

[11]  Brian C. Lovell,et al.  Improved Image Set Classification via Joint Sparse Approximated Nearest Subspaces , 2013, 2013 IEEE Conference on Computer Vision and Pattern Recognition.

[12]  P. Claes,et al.  The Facial Evolution: Looking Backward and Moving Forward , 2013, Human mutation.

[13]  B. V. van Bon,et al.  Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.

[14]  P. Hammond,et al.  Large‐scale objective phenotyping of 3D facial morphology , 2012, Human mutation.

[15]  Eric P Hoffman,et al.  Genomics , Intellectual Disability , and Autism , 2012 .

[16]  Rolf P Wurtz,et al.  Automated syndrome detection in a set of clinical facial photographs , 2011, American journal of medical genetics. Part A.

[17]  Brian C. Lovell,et al.  Invited paper: Embedded face and biometric technologies for national and border security , 2011, CVPR 2011 WORKSHOPS.

[18]  S. Mundlos,et al.  The Human Phenotype Ontology , 2010, Clinical genetics.

[19]  T C Hart,et al.  Genetic studies of craniofacial anomalies: clinical implications and applications. , 2009, Orthodontics & craniofacial research.

[20]  K. Rauen,et al.  The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. , 2009, Current opinion in genetics & development.

[21]  D. Donnai Advances in dysmorphology: from diagnosis to treatment. , 2009, Clinical medicine.

[22]  H. Ropers,et al.  Genetics of intellectual disability. , 2008, Current opinion in genetics & development.

[23]  Ashwin B. Dalal,et al.  Morphometric analysis of face in dysmorphology , 2007, Comput. Methods Programs Biomed..

[24]  Juliane Hoyer,et al.  Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation , 2006, American journal of medical genetics. Part A.

[25]  Tobias Vollmar,et al.  Syndrome identification based on 2D analysis software , 2006, European Journal of Human Genetics.

[26]  A. Karmiloff-Smith,et al.  Discriminating power of localized three-dimensional facial morphology. , 2005, American journal of human genetics.

[27]  Christoph von der Malsburg,et al.  Computer-based recognition of dysmorphic faces , 2003, European Journal of Human Genetics.

[28]  Gang Hua,et al.  Labeled Faces in the Wild: A Survey , 2016 .

[29]  Patrick Grother,et al.  Face Recognition Vendor Test (FRVT) , 2014 .

[30]  M. Field,et al.  Rare Diseases and Orphan Products: Accelerating Research and Development , 2010 .

[31]  M. Field,et al.  Committee on Accelerating Rare Diseases Research and Orphan Product Development , 2010 .

[32]  Tobias Vollmar,et al.  Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. , 2008, European journal of medical genetics.

[33]  H. Leonard,et al.  The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.