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List of works by Ryan L Collins

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

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

scientific article published on 26 April 2018

An information-gain approach to detecting three-way epistatic interactions in genetic association studies

scientific article published on 08 February 2013

Cover Image, Volume 173A, Number 2, February 2017

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

scientific article

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

scientific article

Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9

scientific article

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

scientific article published on February 2016

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.

scientific article published on 6 July 2016

Functional annotation of rare structural variation in the human brain

scientific article published on 12 June 2020

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

scientific article published on 01 December 2018

Genome-wide enhancer maps link risk variants to disease genes

scientific article published on 07 April 2021

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 2016

Loss of δ-catenin function in severe autism

scientific article

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

scientific article

Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis

scientific article

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars

scientific article published on 10 March 2016

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

scientific article published on 18 June 2015

Primary cilia defects causing mitral valve prolapse

scientific article published on 01 May 2019

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

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

scientific article

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 27 May 2020

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