PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

(2022) Xiao Yuan et al.   BRIEFINGS IN BIOINFORMATICS

Explainable Deep Learning: A Field Guide for the Uninitiated

(2022) Gabrielle Ras et al.   JOURNAL OF ARTIFICIAL INTELLIGENCE RESEARCH

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

(2022) Tzung-Chien Hsieh et al.   NATURE GENETICS

Genetic variants underlying differences in facial morphology in East Asian and European populations

(2022) Manfei Zhang et al.   NATURE GENETICS

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

(2022) Ana Julia da Cunha Leite et al.   PLoS One

Estimating diagnostic noise in panel-based genomic analysis

(2022) Robin N. Beaumont et al.   GENETICS IN MEDICINE

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

(2022) Richard C. Caswell et al.   Genome Medicine

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

(2021) Alexander J. M. Dingemans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

(2021) Joery den Hoed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

(2021) Alexander J. M. Dingemans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

AI-based pathology predicts origins for cancers of unknown primary

(2021) Ming Y. Lu et al.   NATURE

Shared heritability of human face and brain shape

(2021) Sahin Naqvi et al.   NATURE GENETICS

Optical genome mapping enables constitutional chromosomal aberration detection

(2021) Tuomo Mantere et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping

(2021) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

(2021) Jane H. Frederiksen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

AI outperforms radiologists in mammographic screening

(2020) David Killock   Nature Reviews Clinical Oncology

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

(2020) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

(2020) Michael S. Breen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-read human genome sequencing and its applications

(2020) Glennis A. Logsdon et al.   NATURE REVIEWS GENETICS

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

(2020) Paulo C. M. Lyra et al.   GENETICS IN MEDICINE

The road ahead in genetics and genomics

(2020) Amy L. McGuire et al.   NATURE REVIEWS GENETICS

Insights into the genetic architecture of the human face

(2020) Julie D. White et al.   NATURE GENETICS

A Style-Based Generator Architecture for Generative Adversarial Networks

(2020) Tero Karras et al.   IEEE TRANSACTIONS ON PATTERN ANALYSIS AND MACHINE INTELLIGENCE

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

(2019) Maria J. Nabais Sá et al.   GENETICS IN MEDICINE

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

(2019) Eric G. Bend et al.   Clinical Epigenetics

PEDIA: prioritization of exome data by image analysis

(2019) Tzung-Chien Hsieh et al.   GENETICS IN MEDICINE

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

(2018) Karthik A. Jagadeesh et al.   GENETICS IN MEDICINE

Genome-wide mapping of global-to-local genetic effects on human facial shape

(2018) Peter Claes et al.   NATURE GENETICS

Predicting the clinical impact of human mutation with deep neural networks

(2018) Laksshman Sundaram et al.   NATURE GENETICS

A universal SNP and small-indel variant caller using deep neural networks

(2018) Ryan Poplin et al.   NATURE BIOTECHNOLOGY

Classification and mutation prediction from non–small cell lung cancer histopathology images using deep learning

(2018) Nicolas Coudray et al.   NATURE MEDICINE

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

(2018) Roos van der Donk et al.   GENETICS IN MEDICINE

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Towards precision medicine

(2016) Euan A. Ashley   NATURE REVIEWS GENETICS

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

(2015) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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) Sue Richards et al.   GENETICS IN MEDICINE

Next-generation diagnostics and disease-gene discovery with the Exomiser

(2015) Damian Smedley et al.   Nature Protocols

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

(2015) Damian Smedley et al.   Genome Medicine

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

(2014) Céline Helsmoortel et al.   NATURE GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Diagnostically relevant facial gestalt information from ordinary photos

(2014) Quentin Ferry et al.   eLife

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino et al.   NATURE GENETICS

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions

(2011) Mitzi L. Murray et al.   GENETICS IN MEDICINE

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The Path to Personalized Medicine

(2010) Margaret A. Hamburg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Metrics for GO based protein semantic similarity: a systematic evaluation

(2008) Catia Pesquita et al.   BMC BIOINFORMATICS