M. Stone

发表

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joon-Yong An, Stephan J. Sanders, 2017, Genome Biology.

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Ryan L. Collins, Ryan M. Layer, Jeffrey D. Mandell, 2018, Nature Genetics.

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

Ryan L. Collins, Ryan E. Mills, Ryan L Collins, 2014, American journal of human genetics.

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Ryan L. Collins, Ryan L Collins, Michael E Talkowski, 2015, American journal of human genetics.

Mutations in DCHS1 Cause Mitral Valve Prolapse

Francesca N. Delling, X. Estivill, R. Levine, 2015, Nature.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

An open resource of structural variation for medical and population genetics

Grace Tiao, Daniel G. MacArthur, Ryan L. Collins, 2019 .

Functional annotation of rare structural variation in the human brain

Kelsey S. Montgomery, P. Sullivan, L. Klei, 2020, Nature Communications.

Mutations in DCHS1 Cause Mitral Valve Prolapse

Francesca N. Delling, Broome, Toomer, 2015, Nature.

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

Ryan L. Collins, Ryan M. Layer, Gabor T. Marth, 2017, bioRxiv.

Identifying strengths and weaknesses of methods for computational network inference from single-cell RNA-seq data

Alireza F. Siahpirani, Sushmita Roy, Junha Shin, 2021, bioRxiv.

Spatial transcriptomics at subspot resolution with BayesSpace

Raphael Gottardo, Xing Ren, Stephen R. Williams, 2021, Nature Biotechnology.

BayesSpace enables the robust characterization of spatial gene expression architecture in tissue sections at increased resolution

Raphael Gottardo, Thomas Pulliam, Edward Zhao, 2020, bioRxiv.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joseph T. Glessner, Stephan J Sanders, 2017, Genome Biology.

Author Correction: A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2021, Nature.

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2020, Nature.

CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing

Ryan L. Collins, Harrison Brand, Joseph T. Glessner, 2016, bioRxiv.

A general statistical model for clone--tissue studies, using X-chromosome inactivation data.

M. Stone, 1983, Biometrics.

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Ryan L. Collins, Ryan M. Layer, Gabor T. Marth, 2018, Nature Genetics.

Functional annotation of rare structural variation in the human brain

Ryan L. Collins, Kelsey S. Montgomery, L. Klei, 2019, Nature Communications.