Publications

2022

Ma S, Skarica M, Li Q, Xu C, Risgaard RD, Tebbenkamp AT.N, Mato-Blanco X, Kovner R, Krsnik Ž, de Martin X, Luria V, Martí-Pérez X, Liang D, Karger A, Schmidt DK, Gomez-Sanchez Z, Qi C, Gobeske KT, Pochareddy S, Debnath A, Hottman CJ, Spurrier J, Teo L, Boghdadi AG, Homman-Ludiye J, Ely JJ, Daadi EW, Mi Da, Daadi M, Marín O, Hof PR, Rasin M, Bourne J, Sherwood CC, Santpere G, Girgenti MJ, Strittmatter SM, Sousa AMM, Sestan N. “Molecular and cellular evolution of the primate dorsolateral prefrontal cortex.” Science, 10.1126. Article

Ozaydin B, Bicki E, Taparli OE, Sheikh TZ, Schmidt DK, Yapici S, Hackett MB, Karahan-Keles N, Eickhoff JC, Corcoran K, Lagoa-Miguel C, Guerrero Gonzalez J, Dean III DC, Sousa AMM, Ferrazzano PA, Levine JE, Cengiz P. “Novel injury scoring tool for assessing brain injury following neonatal hypoxia-ischemia in mice.” Developmental Neuroscience.10.1159. Article.

Giffin-Rao Y, Sheng J, Strand B, Xu K, Huang L, Medo M, Risgaard KA, Dantinne S, Mohan S, Keshan A, Daley Jr. RA, Levesque B, Amundson L, Reese R, Sousa AMM, Tao Y, Wang D, Zhang S, Bhattacharyya A. “Altered patterning of trisomy 21 interneuron progenitors” Stem Cell Reports, 10.1016. Article.

Duy P, Weise SC, Marini C, Li X, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E,  Kundishora AJ, Koundal S,  Pedram MZ,  Torres-Fernández LA, Händler K, Domenico ED, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim S, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza Jr. T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. “Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus”. Nature Neuroscience.10.1038. Article

2021

Franjic D, Skarica M, Ma S, Arellano JI, Tebbenkamp ATN, Choi J, Xu C, Li Q, Morozov YM, Andrijevic D, Vrselja Z, Spajic A, Santpere G, Li M, Zhang S, Liu Y, Spurrier J, Zhang L, Gudelj I, Rapan L, Takahashi H, Huttner A, Fan R, Strittmatter SM, Sousa AMM, Rakic P, Sestan N. “Transcriptomic taxonomy and neurogenic trajectories of adult human, macaque, and pig hippocampal and entorhinal cells” Neuron 08966273. Article

Shibata M, Pattabiraman K, Lorente-Galdos B, Andrijevic D, Kim S, Kaur N, Muchnik SK, Xing X, Santpere G, Sousa AMM, Sestan N. “Regulation of Prefrontal Patterning and Connectivity by Retinoic Acid.” Nature, 1476-4687 . Article.

Girskis KM*, Stergachis AB*, DeGennaro EM *, Doan RN, Qian X, Johnson MB, Wang PP, Sejourne GM, Nagy MA, Pollina EA, Sousa AMM, Shin T, Kenny CJ,  Scotellaro JL, Debo BM,  Gonzalez DM, Rento LM, Yeh RC, Song JHT, Beaudin M, Fan J, Kharchenko PV, Sestan N, Greenberg ME, Walsh CA. “Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions”. Neuron,0896-6273. Article

2020

Werling D*, Pochareddy S*, Choi J*, An JY*, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden F, Breen M, Liang L, Gilson M, Zhao X, Dong S, Klei L, Cicek AE, Buxbaum J, Adle-Biassette H, Thomas J-L, Aldinger KA, O’Day DR, Glass I, Zaitlen N, Talkowski M, Roeder K, State MW, Devlin B, Sanders S, Sestan N. Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex. Cell Reports 31, 107489 Article

Shin J, Ma S, Hofer E, Patel Y, Vosberg DE, Tilley S, Roshchupkin GV, Sousa AMM, Jian X, Gottesmann R, Mosley TH, Fornage M, Saba Y, Pirpamer L, Schmidt R, Schmidt H, Carrion-Castillo A, Crivello F, Mazoyer B, Bis JC, Li S, Yang Q, Luciano M, Karama S, Lewis L, Bastin ME, Harris MA, Wardlaw JM, Deary IE, Ames D, Jiang J, Kwok JB, Schofield PR, Thalamuthu A, Trollor JN, Wright MJ, Brodaty H, Wen W, Sachdev PS, Terzikhan N, Evans TE, Adams HHHH, Ikram MA, Frenzel S, Auwera-Palitschka SVD, Wittfeld K, Bülow R, Grabe HJ, Tzourio C, Mishra S, Maingault S, Debette S, Gillespie NA, Franz CE, Kremen WS, Ding L, Jahanshad N, the ENIGMA Consortium, Sestan S, Pausova A, Seshadri S, Paus T, neuroCHARGE Working Group. Planar cell polarity pathway and development of the human visual cortex. Cerebral Cortex 30, 4121-4239. Article. 

2019

Vrselja Z*, Daniele S*, Silbereis J, Talpo F, Morozov YM, Sousa AMM, Tanaka B, Skarica M, Pletikos M, Kaur N, Zhuang Z, Liu Z, Alkawadri R, Sinusas AJ, Waxman S, Latham S, Sestan N.  Ex vivo normothermic restoration of brain circulation and cellular functions hours postmortem. Nature 568, 336–343. Article

2018

Zhu Y*, Sousa AMM*, Gao T*, Skarica M*, Li M*, Santpere G, Esteller-Cucala P, Juan D, Ferrandez-Peral L, Golden FO, Yang M, Miller DJ, Marques-Bonet T, Kawasawa YI, Zhao H, Sestan N. Spatiotemporal transcriptomic divergence across human and macaque brain development. Science 362, eaat8077. Article.

Li M*, Santpere G*, Kawasawa YI*, Evgrafov OV*, Gulden FO*, Pochareddy S*, Sunkin SM*, Li Z*, Shin Y*, Zhu Y, Sousa AMM, Kitchen RR, Werling DM, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, Liu S, Giusti-Rodríguez P, Leeuw CA, Pardiñas AF, BrainSpan Consortium, PsychENCODE Consortium: Developmental Subgroup, Hu M, Jin F, Li Y, Owen MJ, O’Donovan MC, Walters JT, Posthuma D, Sullivan PF, Levitt P, Weinberger1 DR, Kleinman JE, Geschwind DH, Sanders S, Hawrylycz MJ, Gerstein MB, Lein ES, Knowles JA, Sestan N. Integrative functional genomic analysis of human brain development and neuropsychiatric risk. Science 362, eaat7615. Article.

Amiri A*, Coppola G*, Scuderi S*, Wu F*, Roychowdhury T*, Liu F, Pochareddy S, Shin Y, Safi A, Song L, Zhu Y, Sousa AMM, The PsychENCODE Consortium, Gerstein M, Crawford GE, Sestan N, Abyzov A, Vaccarino FM. The transcriptome and epigenome landscape of human cortical development modeled in brain organoids. Science 362, eaat6720. Article.

 Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N. The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development. Cell 18, 31186-31193. Article.

2017

Sousa AMM*, Zhu Y*, Raghanti MA, Kitchen RR, Onorati M, Tebbenkamp ATN, Stutz B, Meyer KA, Li M, Kawasawa YI, Liu F, Perez RG, Mele M, Carvalho T, Skarica M, Gulden FO, Pletikos M, Shibata A, Stephenson AR, Edles MK, Ely JJ, Elsworth JD, Horvath TL, Hof PR, Mane SM, Noonan JP, State MW, Lein ES, Knowles JA, Marques-Bonet T, Sherwood CC, Gerstein MB, Sestan N. Molecular and cellular reorganization of neural circuits in the human lineage. Science 358, 1027-1032. Article.

Carlyle BC, Kitchen RR, Kanyo JE, Voss EZ, Pletikos M, Sousa AMM, Lam TT, Gerstein MB, Sestan N, Nairn AC. A multiregional proteomic survey of the postnatal human brain. Nature Neuroscience 20, 1787-1795. Article.

Sousa AMM*, Meyer KA*, Santepere G, Gulden FO, Sestan N. Evolution of the human nervous system function, structure, and development. Cell 170, 226 – 247. Article.

2016

Onorati M*, Li Z*, Liu F*, Sousa AMM*, Nakagawa N, Li M, Dell’Anno MT, Gulden FO, Pochareddy S, Tebbenkamp ATN, Han W, Pletikos M, Gao T, Zhu Y, Bichsel C, Varela L, Szigeti-Buck K, Lisgo S, Zhang Y, Testen A, Gao X-B, Mlakar J, Popovic M, Flamand M, Strittmatter SM, Kaczmarek LK, Anton ES, Horvath TL, Lindenbach BD, Sestan N. Zika virus disrupts phospho-TBK1 localization and mitosis in human neuroepithelial stem cells and radial glia. Cell Reports 16, 1–17. Article. 

2015

Lun MP, Johnson MB, Broadbelt KG, Watanabe M, Kang YJ, Chau KF, Springel MW, Malesz A, Sousa AMM, Pletikos M, Adelita T, Calicchio ML, Zhang Y, Holtzman MJ, Lidov HG, Sestan N, Steen H, Monuki ES, Lehtinen MK. Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production. Journal of Neuroscience 35, 4903-16. Article.

2014

Sousa AMM*, Meyer KA*, Sestan N. Molecular and cellular mechanisms of human brain development and evolution. In The Cognitive Neurosciences, 5th edition. Gazzaniga MS, Mangun GR, Eds., The MIT Press, pp. 67-74. Article

Zhu Y, Li M, Sousa AMM, Sestan N. XSAnno: a framework for building ortholog models in cross-species transcriptome comparisons. BMC Genomics 15: 343.  Article 

2013

Pletikos M*, Sousa AMM*, Sedmak G*, Meyer KA, Zhu Y, Cheng F, Li M, Kawasawa YI, Sestan N. Temporal specification and bilaterality of human neocortical topographic gene expression. Neuron 81, 321-32.  Article

2012

Miller DJ, Duka T, Stimpson CD, Schapiro SJ, Baze WB, McArthur MJ, Fobbs AJ, Sousa AMM, Sestan N, Wildman DE, Lipovich L, Kuzawa CW, Hof PR, Sherwood CC. Prolonged myelination in human neocortical evolution. Proceedings of the National Academy of Sciences of the United States of America 109, 16480-5. Article.

Kwan KY, Lam MMS, Johnson MB, Dube U, Shim S, Rasin MR, Sousa AMM, Fertuzinhos S, Chen JG, Arellano JI, Chan DW, Pletikos M, Vasung L, Rowitch DH, Huang EJ, Schwartz ML, Willemsen R, Oostra BA, Rakic P, Heffer M, Kostovic I, Judas M, Sestan N. Species-dependent post-transcriptional regulation of NOS1 by FMRP in the developing cerebral cortex. Cell 149, 899-911.  Article

2011

Kang HJ*, Kawasawa YI*, Cheng F*, Zhu Y*, Xu X*, Li M*, Sousa AMM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Z, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Sestan N. Spatio-temporal transcriptome of the human brain. Nature 478, 483-489.  Article

2010

Santos M, Cavaleiro F, Campos P, Sousa A, Teixeira F, Martins M. Impact of amoeba and scuticociliatidia infection on the aquaculture European sea bass (Dicentrarchus labrax L.) in Portugal. Veterinary Parasitology 171, 15-21.  Article

2008

Vieira LR, Sousa A, Frasco MF, Lima I, Morgado F, Guilhermino L. Acute effects of benzo[a]pyrene, anthracene and a fuel oil on biomarkers of the common goby Pomatoschistus microps (Teleostei, Gobiidae). Science of Total Environment 395, 87-100.  Article