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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

American journal of human genetics, 2023-10, Vol.110 (10), p.1769-1786

2023

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Machine Learning Tools: Impact in Reducing VUS in Arrhythmia Genes for Individuals From Underrepresented Populations Compared to Well-Studied Populations

Heart, lung & circulation, 2023-07, Vol.32, p.S315

2023

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RodZ modulates geometric localization of the bacterial actin MreB to regulate cell shape

Nature communications, 2018-03, Vol.9 (1), p.1280-11, Article 1280

2018

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Extracting phylogenetic dimensions of coevolution reveals hidden functional signals

Scientific reports, 2022-01, Vol.12 (1), p.820-820, Article 820

2022

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Strain Library Imaging Protocol for high-throughput, automated single-cell microscopy of large bacterial collections arrayed on multiwell plates

Nature protocols, 2017-02, Vol.12 (2), p.429-438

2017

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Rod-like bacterial shape is maintained by feedback between cell curvature and cytoskeletal localization

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.3912-3912

2014

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Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

American journal of human genetics, 2021-04, Vol.108 (4), p.696-708

2021

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Effects of polymerization and nucleotide identity on the conformational dynamics of the bacterial actin homolog MreB

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (9), p.3585-3590

2014

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Rapid, precise quantification of bacterial cellular dimensions across a genomic-scale knockout library

BMC biology, 2017-02, Vol.15 (1), p.17-17, Article 17

2017

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Conservation of conformational dynamics across prokaryotic actins

PLoS computational biology, 2019-04, Vol.15 (4), p.e1006683-e1006683

2019

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Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

Cell reports (Cambridge), 2017-03, Vol.18 (11), p.2592-2599

2017

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Deep Phenotypic Mapping of Bacterial Cytoskeletal Mutants Reveals Physiological Robustness to Cell Size

Current biology, 2017-11, Vol.27 (22), p.3419-3429.e4

2017

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A Comprehensive, CRISPR-based Functional Analysis of Essential Genes in Bacteria

Cell, 2016-06, Vol.165 (6), p.1493-1506

2016

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Developing large-scale molecular stability engines for clinical variant interpretation

Biophysical journal, 2022-02, Vol.121 (3), p.325a-325a

2022

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Abstract 13352: The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions

Circulation (New York, N.Y.), 2023-11, Vol.148 (Suppl_1)

2023

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The impact of machine learning models in reducing variants of uncertain significance for individuals from underrepresented populations who are undergoing testing for inborn errors of immunity

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109469, Article 109469

2023

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Cover Image, Volume 193, Number 3, September 2023

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

2023

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Applications of artificial intelligence in clinical laboratory genomics

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-09, Vol.193 (3), p.e32057-e32057

2023

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Systematic Perturbation of Cytoskeletal Function Reveals a Linear Scaling Relationship between Cell Geometry and Fitness

Cell reports (Cambridge), 2014-11, Vol.9 (4), p.1528-1537

2014

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P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100305, Article 100305

2023

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CE-454029-2 THE UTILITY OF MACHINE LEARNING TOOLS IN REDUCING VUS IN ARRHYTHMIA GENES FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS COMPARED TO WELL STUDIED POPULATIONS

Heart rhythm, 2023-05, Vol.20 (5), p.S30-S30

2023

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Strain Library Imaging Protocol: high-throughput, automated single-cell microscopy for large bacterial collections arrayed on multi-well plates

Nature protocols, 2017-01, Vol.12 (2), p.429-438

2017

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P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

Genetics in Medicine Open, 2023, Vol.1 (1), p.100537, Article 100537

2023

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P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100272, Article 100272

2023

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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Machine Learning Tools: Impact in Reducing VUS in Arrhythmia Genes for Individuals From Underrepresented Populations Compared to Well-Studied Populations

RodZ modulates geometric localization of the bacterial actin MreB to regulate cell shape

Extracting phylogenetic dimensions of coevolution reveals hidden functional signals

Strain Library Imaging Protocol for high-throughput, automated single-cell microscopy of large bacterial collections arrayed on multiwell plates

Coordination of peptidoglycan synthesis and outer membrane constriction during Escherichia coli cell division

Rod-like bacterial shape is maintained by feedback between cell curvature and cytoskeletal localization

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

Effects of polymerization and nucleotide identity on the conformational dynamics of the bacterial actin homolog MreB

Rapid, precise quantification of bacterial cellular dimensions across a genomic-scale knockout library

Conservation of conformational dynamics across prokaryotic actins

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

Deep Phenotypic Mapping of Bacterial Cytoskeletal Mutants Reveals Physiological Robustness to Cell Size

A Comprehensive, CRISPR-based Functional Analysis of Essential Genes in Bacteria

Developing large-scale molecular stability engines for clinical variant interpretation

Abstract 13352: The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions

The impact of machine learning models in reducing variants of uncertain significance for individuals from underrepresented populations who are undergoing testing for inborn errors of immunity

Cover Image, Volume 193, Number 3, September 2023

Applications of artificial intelligence in clinical laboratory genomics

Systematic Perturbation of Cytoskeletal Function Reveals a Linear Scaling Relationship between Cell Geometry and Fitness

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

CE-454029-2 THE UTILITY OF MACHINE LEARNING TOOLS IN REDUCING VUS IN ARRHYTHMIA GENES FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS COMPARED TO WELL STUDIED POPULATIONS

Strain Library Imaging Protocol: high-throughput, automated single-cell microscopy for large bacterial collections arrayed on multi-well plates

P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

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