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Computational facial analysis for rare Mendelian disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-09, Vol.193 (3), p.e32061-e32061

2023

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Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63641-n/a

2024

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Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Human mutation, 2022-11, Vol.43 (11), p.1659-1665

2022

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Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.533-539

2018

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Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-09, Vol.193 (3), p.e32056

2023

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Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores

Current protocols, 2023-10, Vol.3 (10), p.e906-n/a

2023

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Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

Genes, 2024-03, Vol.15 (3), p.370

2024

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Nature genetics, 2022-03, Vol.54 (3), p.349-357

2022

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Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.824-833

2023

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

American journal of human genetics, 2019-04, Vol.104 (4), p.749-757

2019

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KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

European journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1244-1254

2022

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Comparison of clinical geneticist and computer visual attention in assessing genetic conditions

PLoS genetics, 2024-02, Vol.20 (2), p.e1011168-e1011168

2024

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PEDIA: prioritization of exome data by image analysis

Genetics in medicine, 2019-12, Vol.21 (12), p.2807-2814

2019

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Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles

2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV), 2023, p.5007-5017

2023

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Role of CAMK2D in neurodevelopment and associated conditions

American journal of human genetics, 2024-02, Vol.111 (2), p.364-382

2024

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Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders

Studies in health technology and informatics, 2023, Vol.302, p.932

2023

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Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias

Pediatric radiology, 2024-01, Vol.54 (1), p.82-95

2024

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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science translational medicine, 2023-05, Vol.15 (698), p.eabo3189

2023

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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Human genetics, 2024-01, Vol.143 (1), p.71-84

2024

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Comparison of Feature Selection Methods for Cross-Laboratory Microarray Analysis

IEEE/ACM transactions on computational biology and bioinformatics, 2013-05, Vol.10 (3), p.593-604

2013

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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Genetics in medicine, 2023-07, Vol.25 (7), p.100836, Article 100836

2023

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Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank

Frontiers in genetics, 2023-11, Vol.14, p.1286561-1286561

2023

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O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors

Genetics in Medicine Open, 2023, Vol.1 (1), p.100113, Article 100113

2023

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Computational facial analysis for rare Mendelian disorders

Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant

Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Comparison of clinical geneticist and computer visual attention in assessing genetic conditions

PEDIA: prioritization of exome data by image analysis

Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles

Role of CAMK2D in neurodevelopment and associated conditions

Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders

Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Comparison of Feature Selection Methods for Cross-Laboratory Microarray Analysis

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

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