References

Calibration of Additional Computational Tools Expands ClinGen Recommendation Options for Variant Classification With PP3/BP4 Criteria

10.1016/j.gim.2025.101402 · 2025 · External reference

Severe Joubert Syndrome in Family With Homozygous POC1B p.Arg106Pro Variant Is due to a Co‐Inherited Deep‐Intronic Mutation in the Neighboring CEP290 Gene

2025 · External reference

Enhancing Variant Prioritization in VarFish Through On‐Premise Computational Facial Analysis

10.3390/genes15030370 · 2024 · External reference

AMELIE Speeds Mendelian Diagnosis by Matching Patient Phenotype and Genotype to Primary Literature

10.1126/scitranslmed.aau9113 · 2020 · External reference

CEP290, a Gene With Many Faces: Mutation Overview and Presentation of CEP290base

10.1002/humu.21337 · 2010 · External reference

Synonymous Variants in Holoprosencephaly Alter Codon Usage and Impact the Sonic Hedgehog Protein

10.1093/brain/awaa152 · 2020 · External reference

Population‐Specific Facial Traits and Diagnosis Accuracy of Genetic and Rare Diseases in an Admixed Colombian Population

10.1038/s41598-023-33374-x · 2023 · External reference

A Comparative Analysis of KMT2D Missense Variants in Kabuki Syndrome, Cancers and the General Population

10.1038/s10038-018-0536-6 · 2019 · External reference

DECIPHER: Supporting the Interpretation and Sharing of Rare Disease Phenotype‐Linked Variant Data to Advance Diagnosis and Research

2022 · External reference

Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning

10.1038/s41591-018-0279-0 · 2019 · External reference

Exome Sequencing of 18,994 Ethnically Diverse Patients With Suspected Rare Mendelian Disorders

10.1038/s41525-024-00455-3 · 2025 · External reference

GestaltMatcher Facilitates Rare Disease Matching Using Facial Phenotype Descriptors

10.1038/s41588-021-01010-x · 2022 · External reference

PEDIA: Prioritization of Exome Data by Image Analysis

10.1038/s41436-019-0566-2 · 2019 · External reference

Phenotype‐Driven Approaches to Enhance Variant Prioritization and Diagnosis of Rare Disease

10.1002/humu.24380 · 2022 · External reference

Predicting Splicing From Primary Sequence With Deep Learning

10.1016/j.cell.2018.12.015 · 2019 · External reference

Partially Automated Whole‐Genome Sequencing Reanalysis of Previously Undiagnosed Pediatric Patients Can Efficiently Yield New Diagnoses

10.1038/s41525-020-00140-1 · 2020 · External reference

In Silico Prediction of Splice‐Altering Single Nucleotide Variants in the Human Genome

10.1093/nar/gku1206 · 2014 · External reference

The Future Role of Facial Image Analysis in ACMG Classification Guidelines

10.1515/medgen-2023-2014 · 2023 · External reference

Exome and Genome Sequencing for Pediatric Patients With Congenital Anomalies or Intellectual Disability: An Evidence‐Based Clinical Guideline of the American College of Medical Genetics and Genomics (ACMG)

10.1038/s41436-021-01242-6 · 2021 · External reference

Systematic Identification of Disease‐Causing Promoter and Untranslated Region Variants in 8040 Undiagnosed Individuals With Rare Disease

10.1186/s13073-025-01464-2 · 2025 · External reference

The Ensembl Variant Effect Predictor

10.1186/s13059-016-0974-4 · 2016 · External reference

Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in Chile

2026 · External reference

Decoding Complex Inherited Phenotypes in Rare Disorders: The DECIPHERD Initiative for Rare Undiagnosed Diseases in Chile

10.1038/s41431-023-01523-5 · 2024 · External reference

Validation of 3 Computer‐Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D‐Score): Comparative Diagnostic Accuracy Study

10.2196/42904 · 2024 · External reference

RNA Sequencing Offers New Diagnostic Opportunities in Neurodevelopmental Disorders: A Systematic Review

10.1016/j.gim.2025.101666 · 2026 · External reference

MaveDB 2024: A Curated Community Database With Over Seven Million Variant Effects From Multiplexed Functional Assays

10.1186/s13059-025-03476-y · 2025 · External reference

Unresolved reference

External reference

Efficient Reinterpretation of Rare Disease Cases Using Exomiser

10.1038/s41525-024-00456-2 · 2024 · External reference

Using the ACMG/AMP Framework to Capture Evidence Related to Predicted and Observed Impact on Splicing: Recommendations From the ClinGen SVI Splicing Subgroup

10.1016/j.ajhg.2023.06.002 · 2023 · External reference

Evidence Review and Considerations for Use of First Line Genome Sequencing to Diagnose Rare Genetic Disorders. Npj

10.1038/s41525-024-00396-x · 2024 · External reference

Beyond the Exome: What's Next in Diagnostic Testing for Mendelian Conditions

10.1016/j.ajhg.2023.06.009 · 2023 · External reference

Using Facial Analysis Technology in a Typical Genetic Clinic: Experience From 30 Individuals From a Single Institution

10.1038/s10038-019-0673-6 · 2019 · External reference