Ryan L Collins, A.B.
Ryan L Collins, A.B.
NSF Graduate Fellow & Ph.D. Candidate, Harvard Medical School
Verified email at g.harvard.edu - Homepage
Title
Cited by
Cited by
Year
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
1025*2020
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing
A Veres, BS Gosis, Q Ding, R Collins, A Ragavendran, H Brand, S Erdin, ...
Cell stem cell 15 (1), 27-30, 2014
4872014
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9
PK Mandal, LMR Ferreira, R Collins, TB Meissner, CL Boutwell, M Friesen, ...
Cell stem cell 15 (5), 643-652, 2014
3832014
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
2392020
Multi-platform discovery of haplotype-resolved structural variation in human genomes
MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ...
Nature communications 10 (1), 1-16, 2019
2242019
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
1672017
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
144*2019
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
DM Werling, H Brand, JY An, MR Stone, L Zhu, JT Glessner, RL Collins, ...
Nature genetics 50 (5), 727-736, 2018
1252018
Loss of δ-catenin function in severe autism
TN Turner, K Sharma, EC Oh, YP Liu, RL Collins, MX Sosa, DR Auer, ...
Nature 520 (7545), 51-56, 2015
1202015
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ...
Genome biology 18 (1), 1-21, 2017
1012017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ...
Nature genetics 49 (2), 238, 2017
872017
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
JY An, K Lin, L Zhu, DM Werling, S Dong, H Brand, HZ Wang, X Zhao, ...
Science 362 (6420), 2018
822018
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
72*2020
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
T Aneichyk, W Hendriks, R Yadav, D Shin, D Gao, CA Vaine, RL Collins, ...
Cell 172 (5), 897-909.e21, 2018
712018
Whole-genome sequencing to characterize monogenic and polygenic contributions in patients hospitalized with early-onset myocardial infarction
AV Khera, M Chaffin, SM Zekavat, RL Collins, C Roselli, P Natarajan, ...
Circulation 139 (13), 1593-1602, 2019
692019
An information-gain approach to detecting three-way epistatic interactions in genetic association studies
T Hu, Y Chen, JW Kiralis, RL Collins, C Wejse, G Sirugo, SM Williams, ...
Journal of the American Medical Informatics Association 20 (4), 630-636, 2013
622013
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders
H Brand, V Pillalamarri, RL Collins, S Eggert, C O’Dushlaine, EB Braaten, ...
The American Journal of Human Genetics 95 (4), 454-461, 2014
512014
Paired-duplication signatures mark cryptic inversions and other complex structural variation
H Brand, RL Collins, C Hanscom, JA Rosenfeld, V Pillalamarri, MR Stone, ...
The American Journal of Human Genetics 97 (1), 170-176, 2015
432015
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
DJC Tai, A Ragavendran, P Manavalan, A Stortchevoi, CM Seabra, ...
Nature neuroscience 19 (3), 517-522, 2016
402016
Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis
Z Ordulu, T Kammin, H Brand, V Pillalamarri, CE Redin, RL Collins, ...
The American Journal of Human Genetics 99 (5), 1015-1033, 2016
382016
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