Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features

(2021) Xi Luo et al.   HUMAN MOLECULAR GENETICS

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

(2020) Kym M. Boycott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility

(2020) Viola Volpato et al.   Disease Models & Mechanisms

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

(2020) Hyung-lok Chung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

(2020) Debdeep Dutta et al.   HUMAN MOLECULAR GENETICS

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

(2020) Hyung-lok Chung et al.   NEURON

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

(2020) Bernardo Blanco-Sánchez et al.   PLoS Genetics

A most formidable arsenal: genetic technologies for building a better mouse

(2020) James F. Clark et al.   GENES & DEVELOPMENT

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

(2020) Scott Barish et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

(2019) Lindsay C. Burrage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New models for human disease from the International Mouse Phenotyping Consortium

(2019) Pilar Cacheiro et al.   MAMMALIAN GENOME

A personalized platform identifies trametinib plus zoledronate for a patient with KRAS-mutant metastatic colorectal cancer

(2019) Erdem Bangi et al.   Science Advances

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

(2019) Hugo J Bellen et al.   HUMAN MOLECULAR GENETICS

Mendelian Gene Discovery: Fast and Furious with No End in Sight

(2019) Michael J. Bamshad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

(2019) Oguz Kanca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Organoids: Tools for Understanding Biology and Treating Diseases

(2019) Frans Schutgens et al.   Annual Review of Pathology-Mechanisms of Disease

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

(2019) J. Michael Harnish et al.   Jove-Journal of Visualized Experiments

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

(2019) Julia Wang et al.   Jove-Journal of Visualized Experiments

Zebrafish earn their drug discovery stripes

(2019) Megan Cully   NATURE REVIEWS DRUG DISCOVERY

An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

(2019) Oguz Kanca et al.   eLife

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

(2019) Nichole Link et al.   DEVELOPMENTAL CELL

Biallelic Mutations in ATP5F1D , which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

(2018) Monika Oláhová et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

(2018) Ning Liu et al.   HUMAN MOLECULAR GENETICS

Switch and Trace: Recombinase Genetics in Zebrafish

(2018) Tom J. Carney et al.   TRENDS IN GENETICS

IRF2BPL Is Associated with Neurological Phenotypes

(2018) Paul C. Marcogliese et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Use of zebrafish models to investigate rare human disease

(2018) Kathryn Isabel Adamson et al.   JOURNAL OF MEDICAL GENETICS

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

(2018) Carlos R. Ferreira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

(2018) Kimberly Splinter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sphingolipids in the Pathogenesis of Parkinson’s Disease and Parkinsonism

(2018) Guang Lin et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

(2017) Sharon Kim et al.   HUMAN MOLECULAR GENETICS

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

(2017) Wan Hee Yoon et al.   NEURON

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

(2017) Xi Luo et al.   PLoS Genetics

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

(2016) Tamar Harel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Decreased function of survival motor neuron protein impairs endocytic pathways

(2016) Maria Dimitriadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Morgan’s Legacy: Fruit Flies and the Functional Annotation of Conserved Genes

(2015) Hugo J. Bellen et al.   CELL

A Transparent Window into Biology: A Primer on Caenorhabditis elegans

(2015) Ann K. Corsi et al.   GENETICS

Fruit Flies in Biomedical Research

(2015) M. F. Wangler et al.   GENETICS

A Gain-of-Function Mutation inNALCNin a Child with Intellectual Disability, Ataxia, and Arthrogryposis

(2015) Kyota Aoyagi et al.   HUMAN MUTATION

A Transparent Window into Biology: A Primer on Caenorhabditis elegans

(2015) Ann K. Corsi et al.   GENETICS

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

Zebrafish models in translational research: tipping the scales toward advancements in human health

(2014) J. B. Phillips et al.   Disease Models & Mechanisms

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

(2014) Bodo B. Beck et al.   HUMAN MUTATION

The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

(2014) Jeffrey P. Krischer et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

The zebrafish reference genome sequence and its relationship to the human genome

(2013) Kerstin Howe et al.   NATURE

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

An integrative approach to ortholog prediction for disease-focused and other functional studies

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future

(2010) Hugo J. Bellen et al.   NATURE REVIEWS NEUROSCIENCE

Systematic discovery of nonobvious human disease models through orthologous phenotypes

(2010) K. L. McGary et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly

(2008) Xin Geng et al.   DEVELOPMENTAL CELL