Publications

(Note: Not all publications included below. For a complete list of publications, please see my CV)

 

Selected publications:

PDFCollins 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), 581: 444-451. PMID: TBD. DOI: 10.1038/s41586-020-2287-8.

PDFCollins 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), 18(36): 1-21. PMID: 28260531. DOI: 10.1186/s13059-017-1158-6.

PDFBrand 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), 97(1): 170-176. PMID: 26094575. DOI: 10.1016/j.ajhg.2015.05.012.

PDFCollins RL, Hu T, Wejse C, Sirugo G, Williams SM, Moore JH. Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis. BioData Mining (2013), 6(1): 4. PMID: 23418869. DOI: 10.1186/1756-0381-6-4.

PDFKarczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, The  gnomAD Consortium, Neale BM, Daly MJ, MacArthur DG. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. Nature (2020), 581. PMID: TBD. DOI: 10.1038/s41586-020-2308-7.

PDFSatterstrom FK*, Kosmicki JA*, Wang J*, Breen M, Rubeis SD, An J, Peng M, Collins RL, Grove J, Klei L, Stevens C, Reichert J, Mulhern M, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero E, Dias C, Aleksic B, Anney RJ, Barbosa M, Bishop S, Brusco A, Bybjerg-Grauholm J, Carracedo A, Chan MC, Chiocchetti A, Chung B, Coon H, Cuccaro M, Curró A, Bernardina BD, Doan R, Domenici E, Dong S, Fallerini C, Fernández-Prieto M, Ferrero GB, Freitag CM, Fromer M, Gargus JJ, Geschwind D, Giorgio E, González-Peñas J, Guter S, Halpern D, Hassen-Kiss E, He X, Herman G, Hertz-Picciotto I, Hougaard DM, Hultman CM, Ionita-Laza I, Jacob S, Jamison J, Jugessur A, Kaartinen M, Knudsen GP, Kolevzon A, Kushima I, Lee SL, Lehtimäki T, Lim ET, Lintas C, Lipkin WI, Lopergolo D, Lopes F, Ludena Y, Maciel P, Magnus P, Mahjani B, Maltman N, Manoach DS, Meiri G, Menashe I, Miller J, Minshew N, De Souza EM, Moreira D, Morrow E, Mors O, Mortensen PB, Mosconi M, Muglia P, Neale B, Nordentoft M, Ozaki N, Palotie A, Parellada M, Passos-Bueno MR, Pericak-Vance M, Persico A, Pessah I, Puura K, Reichenberg A, Renieri A, Riberi E, Robinson E, Samocha KE, Sandin S, Santangelo SL, Schellenberg G, Scherer S, Schlitt S, Schmidt R, Schmitt L, Silva IM, Singh T, Siper P, Smith M, Soares G, Stoltenberg C, Suren P, Susser E, Sweeney J, Szatmari P, Tang L, Tassone F, Teufel K, Trabetti E, Trelles MD, Walsh C, Weiss L, Werge T, Werling D, Wigdor EM, Wilkinson E, Willsey JA, Yu T, Yu MH, Yuen R, Zachi E, Betancur C, Cook EH, Gallagher L, Gill M, Lehner T, Senthil G, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ°, Roeder K°, Buxbaum JD°, Daly MJ°. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell (2020), 80(3):568-584.e23. PMID: 31981491. DOI: 10.1016/j.cell.2019.

PDFChaisson MJ*, Sanders AD*, Zhao X*, Malhotra A°, Porubsky D°, Rausch T°, Gardner EJ°, Rodriguez O°, Guo L°, Collins RL°, Fan X°, Wen J°, Handsaker RE°, Fairley S°, Kronenberg ZN°, Kong X°, Hormozdiari F°, Lee D°, Wenger AM°, Hastie A°, Antaki D°, Audano P, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin C, Chong Z, Chuang NT, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin D, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lee JE, Lee J, Lee W, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro F, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang A, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DC, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok P, Lansdorp PM, Marth G, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski M, Mills RE, Marschall T, Korbel J, Eichler EE, Lee C. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications (2019), 10(1):1784. PMID: 30992455. DOI: 10.1038/s41467-018-08148-z.

PDFWerling DM*, Brand H*, An J*, Stone MR*, Zhu L*, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman C, Gilson M, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJeremy, Buxbaum JD, Daly MJ, State MW, Quinlan A, Marth GT, Roeder K, Devlin B°, Talkowski ME°, Sanders SJ°. An analytical framework for whole genome sequence data and its implications for autism spectrum disorder. Nature Genetics (2018), 50(5): 727-736. PMID: 29700473. DOI: 10.1038/s41588-018-0107-y.

PDFAneichyk T*, Hendriks WT*, Yadav R*, Shin D*, Gao D*, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Ballouz S, Gillis J, Lyon GJ, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC°, Talkowski ME°. Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly. Cell (2018), 172(5): 897-909.e21. PMID: 29474918. DOI: 10.1016/j.cell.2018.02.011.

PDFRedin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott M, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson M, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Bongers EMHF, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D’hooghe M, de Vries BBA, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CZ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint A, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Piña-Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SLP, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CML, Warburton DP, Waterman MJ, Wiley S, Wilson A, Vega M, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics (2017), 49(1): 36-45. PMID: 27841880. DOI: 10.1038/ng.3720.

PDFMandal PK*, Ferreira LMR*, Collins RL, Meissner TB, Boutwell CL, Friesen M, Garrison BS, Stortchevoi A, Bryder D, Musunuru K, Brand H, Allen TM, Talkowski ME, Rossi DJ°, Cowan CA°. Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9. Cell Stem Cell (2014), 15(5): 643-652. PMID: 25517468. DOI: 10.1016/j.stem.2014.10.004.

PDFBrand H*, Pillalamarri V*, Collins RL, Eggert S, O’Dushlaine C, Braaten EB, Stone M, Chambert K, Doty ND, Hanscom C, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME°, Doyle AE°. Cryptic and complex chromosomal aberrations in early onset neuropsychiatric disorders. American Journal of Human Genetics (2014). 95:4, 454-461. PMID: 25279985. DOI: 10.1016/j.ajhg.2014.09.005.

PDFVeres A, Gosis BS, Ding Q, Collins RL, Ragavendran A, Brand H, Erdin S, Talkowski ME, Musunuru K. Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. Cell Stem Cell (2014), 15:1, 27-30. PMID: 24996167. DOI: 10.1016/j.stem.2014.04.020.