C. Austin-Tse

发表

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Marylyn D. Ritchie, Scott Mellis, Alan R. Shuldiner, 2016, Science.

Mutation mapping and identification by whole-genome sequencing

B. Paw, W. Goessling, I. Adzhubei, 2012, Genome research.

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

Ryan L. Collins, Stephan J Sanders, D. MacArthur, 2020 .

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

A. Schier, R. Reinhardt, H. Omran, 2012, Nature Genetics.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

D. MacArthur, H. Rehm, A. O’Donnell-Luria, 2022, Human mutation.

Harmonizing variant classification for return of results in the All of Us Research Program

Matthew S. Lebo, David R. Murdock, R. Gibbs, 2021, Human mutation.

Zebrafish cilia.

C. Austin-Tse, I. Drummond, 2013, Methods in enzymology.

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Brandon K. Fornwalt, Henry J. Lin, K. Lunetta, 2022, Nature Communications.

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

Alicia R. Martin, Lethukuthula L Nkambule, D. MacArthur, 2022, medRxiv.

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2020, bioRxiv.

Case 6-2020: A 34-Year-Old Woman with Hyperglycemia.

M. Udler, C. Austin-Tse, Camille E. Powe, 2020, The New England journal of medicine.

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Matthew S. Lebo, J. Ware, D. Macaya, 2021, The Journal of molecular diagnostics : JMD.

JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia.

Bryan D. Bryson, A. Regev, H. Rehm, 2022, Med.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

Brandon K. Fornwalt, K. Lunetta, S. Redline, 2021, medRxiv.

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

H. Rehm, D. Mandelker, S. Amr, 2018, European journal of medical genetics.

Approaches to the comprehensive interpretation of genome-scale sequencing

O. Ceyhan-Birsoy, C. Austin-Tse, 2021 .

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

Brandon K. Fornwalt, Henry J. Lin, K. Lunetta, 2021, medRxiv.

Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Matthew S. Lebo, Christine Y. Lu, H. Rehm, 2020, medRxiv.

Best practices for the interpretation and reporting of clinical whole genome sequencing

David R. Murdock, Denise L. Perry, V. Jobanputra, 2022, NPJ genomic medicine.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2021, medRxiv.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases

E. Molinari, J. Sayer, Yuya Sugano, 2021, Journal of cell science.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

M. Rosenfeld, H. Omran, T. Hurd, 2013, American journal of human genetics.

Cytoplasmic carboxypeptidase 5 regulates tubulin glutamylation and zebrafish cilia formation and function

C. Austin-Tse, I. Drummond, Yan Liu, 2014, Molecular biology of the cell.

Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes

Brandon K. Fornwalt, Henry J. Lin, K. Lunetta, 2021, Circulation. Genomic and precision medicine.

A Framework for Automated Gene Selection in Genomic Applications

R. Green, H. Rehm, K. Machini, 2021, Genetics in Medicine.

A Framework for Automated Gene Selection in Genomic Screening

R. Green, H. Rehm, K. Machini, 2020, medRxiv.

Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing

Matthew S. Lebo, Alexander E. Lopez, Brandon K. Fornwalt, 2017, Genetics in Medicine.

Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons

E. Yaksi, Cameron Wyatt, C. Austin-Tse, 2018, Cilia.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2023, American journal of human genetics.

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

Ryan L. Collins, Stephan J Sanders, D. MacArthur, 2020 .

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

DNM1L Variant Presenting as Adolescent-Onset Sensory Neuronopathy, Spasticity, Dystonia, and Ataxia

A. O’Donnell-Luria, C. Austin-Tse, C. Kilbane, 2023, Journal of Pediatric Neurology.

An N-of-1 Trial of Itacitinib for a Patient with Aplastic Anemia Associated with a Gain-of-Function Variant in STAT1

Bryan D. Bryson, H. Rehm, C. Lareau, 2021 .

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

U. Shankavaram, A. O’Donnell-Luria, T. Stracker, 2023, medRxiv.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

M. Rosenfeld, H. Omran, T. Hurd, 2013, American journal of human genetics.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Phenotype and genetic analysis of data collected within the first year of NeuroDev

Lethukuthula L Nkambule, A. O’Donnell-Luria, H. Brand, 2023, Neuron.

Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Matthew S. Lebo, S. Kathiresan, M. Udler, 2021, Genetics in Medicine.

Genomic data in the All of Us Research Program

Matthew S. Lebo, Melissa A. Basford, Karynne E. Patterson, 2024, Nature.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.