Dana-Farber Building

Highlighted Publications

Collins Genomics Lab

Below are some of the published studies that members of our team have led or co-led (CGL members are highlighted with bold, underlined text). These publications were selected because they best exemplify our research strategies. 

You can view a full list of the CGL's published research on Google Scholar, on PubMed, or by scrolling to the bottom of this page.

  • [PDF] Gillani R*, Collins RL*, Crowdis J, Garza A, Jones JK, Walker M, Sanchis-Juan A, Whelan C, Pierce-Hoffman E, Brookings T, Calamari N, Talkowski M, Brand H, Haigis K, LoPiccolo J, AlDubayan SH, Gusev A, Crompton BD, Janeway KA, Van Allen EM. Rare germline structural variants increase risk for pediatric solid tumors. Science, 2025.

     

  • [PDF] Chen J, Collins RL*, Haigis KM*. The tissue specificity of cancer genes. bioRxiv, 2025.

     

  • [PDF] Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj L, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski K, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U, Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. A cross-disorder dosage sensitivity map of the human genome. Cell, 2022.

     

  • [PDF] Collins RL*, Brand H*, Karczewski KJ, Zhao X, Alföldi J, Khera AV, Francioli LC, Gauthier LD, Wang H, O’Donnell-Luria A, Solomonson M, Baumann A, Munshi R, Walker M, Whelan C, Huang Y, Brookings T, Sharpe T, Stone MR, Tiao G, Laricchia KM, Watts NA, Fu J, Valkanas E, Lowther C, Stevens C, Gupta N, Cusick C, Margolin L, The gnomAD Production Team, The gnomAD Consortium, Spertus JA, Taylor KD, Psaty BM, Rich SS, Post W, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. A structural variation reference for medical and population genetics. Nature, 2020.

     

  • [PDF] Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An J, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biology, 2017.

     

  • [PDF] Brand H*, Collins RL*, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge J, Gusella JF, Sanders SJ, Talkowski ME. Paired duplications mark cryptic inversions and are a common signature of complex structural variation. American Journal of Human Genetics, 2015.

     

All CGL publications