GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

[1]  D. Horn,et al.  Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study , 2020, Journal of medical Internet research.

[2]  A. Olry,et al.  Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database , 2019, European Journal of Human Genetics.

[3]  R. Pfundt,et al.  Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. , 2019, American journal of human genetics.

[4]  Matthew H. Brush,et al.  De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. , 2019, American journal of human genetics.

[5]  C. Ferreira,et al.  The burden of rare diseases , 2019, American journal of medical genetics. Part A.

[6]  Tzung-Chien Hsieh,et al.  The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. , 2019, American journal of human genetics.

[7]  A. V. Vulto-van Silfhout,et al.  De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. , 2019, American journal of human genetics.

[8]  L. Vissers,et al.  De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms , 2019, European Journal of Human Genetics.

[9]  Peter M. Krawitz,et al.  Identifying facial phenotypes of genetic disorders using deep learning , 2019, Nature Medicine.

[10]  P. Kemmeren,et al.  Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders , 2018, Genetics in Medicine.

[11]  Georgia Ramantani,et al.  Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. , 2018, American journal of human genetics.

[12]  Ellen F. Macnamara,et al.  Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. , 2018, American journal of human genetics.

[13]  Andrew Zisserman,et al.  Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings , 2018, ECCV Workshops.

[14]  J. Schuurs-Hoeijmakers,et al.  A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. , 2018, American journal of human genetics.

[15]  O. Bar,et al.  Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of 2D photos , 2018, Clinical genetics.

[16]  R. Nussbaum,et al.  Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework , 2018, Genetics in Medicine.

[17]  Chunlei Liu,et al.  ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..

[18]  B. D. de Vries,et al.  Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability , 2017, BMC Biotechnology.

[19]  Juliane Hoyer,et al.  Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. , 2017, American journal of human genetics.

[20]  Kiely N. James,et al.  Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. , 2017, American journal of human genetics.

[21]  Balasubramanian Raman,et al.  A Deep Learning Frame-Work for Recognizing Developmental Disorders , 2017, 2017 IEEE Winter Conference on Applications of Computer Vision (WACV).

[22]  W. Chung,et al.  Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. , 2017, American journal of human genetics.

[23]  H. Peeters,et al.  Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator , 2016, Clinical genetics.

[24]  R. Pfundt,et al.  Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms , 2016, Genome Medicine.

[25]  J. Rosenfeld,et al.  De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. , 2016, American journal of human genetics.

[26]  Jiebo Luo,et al.  Detecting Visually Observable Disease Symptoms from Faces , 2016, EURASIP J. Bioinform. Syst. Biol..

[27]  Marius George Linguraru,et al.  Identification of dysmorphic syndromes using landmark-specific local texture descriptors , 2016, 2016 IEEE 13th International Symposium on Biomedical Imaging (ISBI).

[28]  Julie R. Jones,et al.  De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features , 2016, Cold Spring Harbor molecular case studies.

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

[30]  D. Valle,et al.  GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK , 2015, Human mutation.

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

[32]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[33]  Shengcai Liao,et al.  Learning Face Representation from Scratch , 2014, ArXiv.

[34]  Mahesan Niranjan,et al.  Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics , 2014, Artif. Intell. Medicine.

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

[36]  Ming Yang,et al.  DeepFace: Closing the Gap to Human-Level Performance in Face Verification , 2014, 2014 IEEE Conference on Computer Vision and Pattern Recognition.

[37]  L. Vissers,et al.  Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. , 2012, American journal of human genetics.

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

[39]  Marwan Mattar,et al.  Labeled Faces in the Wild: A Database forStudying Face Recognition in Unconstrained Environments , 2008 .

[40]  Geoffrey E. Hinton,et al.  Visualizing Data using t-SNE , 2008 .

[41]  H B Newcombe,et al.  Genetic disorders in children and young adults: a population study. , 1988, American journal of human genetics.

[42]  P. Rousseeuw Silhouettes: a graphical aid to the interpretation and validation of cluster analysis , 1987 .

[43]  R M Winter,et al.  The London Dysmorphology Database. , 1987, Journal of medical genetics.

[44]  V A McKusick,et al.  On Lumpers and Splitters, or the Nosology of Genetic Disease , 2015, Perspectives in biology and medicine.