Publications

2026

Whole-exome sequencing in individuals with obsessive–compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes
Wang B, Tran M, Wang S, Liu Y, Olfson E, Wang G, Sun N, Dea J, Olwal C, Bertolace L, Bloch M, Cappi C, Chang Y, Chavira D, Coffey B, Falkenstein M, Frank A, Franklin M, Garayalde S, Garrido H, Grados M, Hatem R, Howell A, Khim S, Kuckertz J, Le M, Libby A, McCarty R, McNamara M, McNeil D, Miguel E, Nasello C, Nguyen B, Norbu T, Oh L, Ordway A, Paciotti C, Peskin V, Pittenger C, Simpson H, Simpson Martin H, Tischfield M, Xing J, Zakrzewski J, Dietrich A, Gilbert D, Hoekstra P, Kim Y, Kuperman S, Rosen A, Zinner S, Bouhaddou M, King R, Rouleau G, Ressler K, Mathews C, Krogan N, Sestan N, Tischfield J, Lee A, Heiman G, Fernandez T, Willsey A. Whole-exome sequencing in individuals with obsessive–compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes. Nature Neuroscience 2026, 1-13. PMID: 42680906, DOI: 10.1038/s41593-026-02419-5.
Peer-Reviewed Original Research
Targeted Biospecimen Collection to Meet High Priority Pediatric Health Needs: The Developmental Genotype-Tissue Expression Project.
Van Hoose P, Linn R, VonDran M, Taylor D, Blanchard T, Hernandez R, Faith M, Pryhuber G, Huyck H, LeFevre A, Johnson R, Roberts V, Lewis A, Anderson L, Kovner R, Pfeiffer M, McGillcuddy M, Grimm M, Czaplicki J, Heinemann C, Salehi A, Sanagavarapu B, Suplee L, Ryan C, DiMarino N, Nissley N, Clarke J, Chard A, Gilbert M, Savannah E, Kreeb J, Roberts R, Corbit V, Ardlie K, Sestan N, Bell T. Targeted Biospecimen Collection to Meet High Priority Pediatric Health Needs: The Developmental Genotype-Tissue Expression Project. Biopreservation And Biobanking 2026, 19475535261468926. PMID: 42557539, DOI: 10.1177/19475535261468926.
Peer-Reviewed Original Research
Competing programs shape cortical sensorimotor–association axis development
Tsyporin J, Zhang M, Qi C, Segal A, Li X, Kim H, Choi S, Pavlovic I, Bandiera S, Finn T, Kim S, Shibata A, Nakamura T, Onishi K, Zhang Z, Hammarlund E, Su G, Salla N, Kachko J, Hawley C, Li S, Doyle D, Peng X, Nottoli T, Ruiz-Reig N, Tissir F, Nakagawa Y, Herzog E, Ma S, Pattabiraman K, Shimogori T, Duque A, Fornito A, Huang H, Shibata M, Chen B, Sestan N. Competing programs shape cortical sensorimotor–association axis development. Nature 2026, 656: 688-699. PMID: 42386980, PMCID: PMC13489954, DOI: 10.1038/s41586-026-10699-x.
Peer-Reviewed Original Research
MeSH Keywords
Genomic sequence evolution underlying human neocortical interareal diversification
He W, Hou W, Jiang C, Zhang X, Wang Y, Zhou Y, Ma S, Fan J, Wang H, Li P, Xie W, Yan B, Sestan N, Chen L, Zhang J, Zhu Y. Genomic sequence evolution underlying human neocortical interareal diversification. Genome Biology 2026, 27: 269. PMID: 42374471, PMCID: PMC13501727, DOI: 10.1186/s13059-026-04177-w.
Peer-Reviewed Original Research
MeSH Keywords
RBMX functional retrocopy safeguards brain development in a species-dependent context
Tilliole P, Mattausch C, Tilly P, Leitão E, Boutaud L, Lehalle D, An I, Argilli E, Aufox S, Callewaert B, Charles P, Cinkornpumin J, Courtin T, Vecchia M, Davis E, Dimitrov B, Dobyns W, Epifanova E, Grandgirard E, Jung M, Jurgensmeyer Langas S, Kaya S, Keren B, Khan T, Lejeune E, Li M, Marie Y, Morlet B, Nava C, Pastor W, Plassard D, Prada C, Rastetter A, Schwaller N, Sestan N, Sherr E, Temple S, Tenywa J, Tielens S, van Haeringen A, Whitley H, Nguyen L, Steenpaß L, Rhinn M, Collins S, Héron D, Cormier-Daire V, Attie-Bitach T, Yalcin B, Depienne C, Godin J. RBMX functional retrocopy safeguards brain development in a species-dependent context. Brain 2026, awag218. PMID: 42360281, DOI: 10.1093/brain/awag218.
Peer-Reviewed Original Research
NeMO Analytics: a compendium of transcriptomic data for the exploration of neocortical development
Sonthalia S, Herb B, Adkins R, Orvis J, Li G, Liao X, Yu Q, Blanco X, Casella A, Liu J, Stein-O’Brien G, Caffo B, Hertzano R, Mahurkar A, Xu J, Gillis J, Werner J, Ma S, Kim S, Micali N, Sestan N, Rakic P, Santpere G, Ament S, Colantuoni C. NeMO Analytics: a compendium of transcriptomic data for the exploration of neocortical development. Nature Neuroscience 2026, 29: 978-991. PMID: 41882195, PMCID: PMC13061640, DOI: 10.1038/s41593-026-02204-4.
Peer-Reviewed Original Research
Adaptive evolution of gene regulatory networks in mammalian neocortex
Li Z, Kaur N, Santpere G, Muchnik S, Sindhu S, Qi C, Shibata M, Clément O, Klarić T, de Martin X, Luria V, Cho H, Li M, Shibata A, Choi S, Kim H, Tebbenkamp A, Ma S, Han W, Kim S, Pochareddy S, Duy P, Xing X, Bao Y, Xu X, Gladwyn-Ng I, Cullen H, Paolino A, Fenlon L, Kozulin P, Suárez R, Risgaard R, Gulden F, Karger A, Suzuki I, Hirata T, Gobeske K, Richards L, Sousa A, Heng J, Sestan N. Adaptive evolution of gene regulatory networks in mammalian neocortex. Nature 2026, 653: 156-166. PMID: 41851468, PMCID: PMC13149332, DOI: 10.1038/s41586-026-10226-y.
Peer-Reviewed Original Research
Human-specific features of the cerebellum and ZP2-regulated synapse development
Kim S, Cherskov A, Choi S, Kim H, Li M, Zhang M, Mato-Blanco X, Liu Y, Micali N, Young D, Estacion M, Zhang Y, Ruiz-Jiménez J, Nadkarni A, Luria V, Chatterjee I, Shibata A, Liang D, Cho H, Park S, Spajic A, Kovner R, Glavan M, Chen R, Risgaard R, Li X, Pochareddy S, Karger A, Huttner A, Morozov Y, Daadi E, Colantuoni C, Ely J, Hof P, Daadi M, Sherwood C, Duque A, Ma S, Sousa A, Waxman S, Rakic P, Santpere G, Sanders S, Sestan N. Human-specific features of the cerebellum and ZP2-regulated synapse development. Cell 2026, 189: 1802-1819.e28. PMID: 41819103, DOI: 10.1016/j.cell.2026.02.014.
Peer-Reviewed Original Research
MeSH Keywords
Endovascular thrombectomy for acute stroke: evolving eligibility criteria and adjunct therapies
Glavan M, Liu J, Sampaio Silva G, Nguyen T, Zhou J, Sestan N, Kimberly W, Sheth K. Endovascular thrombectomy for acute stroke: evolving eligibility criteria and adjunct therapies. The Lancet Neurology 2026, 25: 61-76. PMID: 41389830, DOI: 10.1016/s1474-4422(25)00356-4.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords

2025

PsychENCODE at 10: From genomic maps to mechanistic insights in mental illness
Roussos P, Vaccarino F, Weng Z, Sestan N, Gerstein M, Geschwind D. PsychENCODE at 10: From genomic maps to mechanistic insights in mental illness. Neuron 2025, 113: 4099-4102. PMID: 41412064, DOI: 10.1016/j.neuron.2025.11.027.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords
Spatial dynamics of brain development and neuroinflammation
Zhang D, Rubio Rodríguez-Kirby L, Wang W, Song M, Wang L, Wang L, Kanatani S, Jimenez-Beristain T, Dang Y, Zhong M, Kukanja P, Bao S, Wang S, Chen X, Gao F, Wang D, Xu H, Ma C, Lou X, Liu Y, Chen J, Sestan N, Uhlén P, Kriegstein A, Zhao H, Castelo-Branco G, Fan R. Spatial dynamics of brain development and neuroinflammation. Nature 2025, 647: 213-227. PMID: 41193846, PMCID: PMC12589135, DOI: 10.1038/s41586-025-09663-y.
Peer-Reviewed Original Research
MeSH Keywords
The new frontier in understanding human and mammalian brain development
Nowakowski T, Nano P, Matho K, Chen X, Corrigan E, Ding W, Gao Y, Heffel M, Jayakumar J, Kaplan H, Kronman F, Kovner R, Mannens C, Song M, Steyert M, Venkatesan S, Wallace J, Wang L, Werner J, Zhang D, Yuan G, Zuo G, Ament S, Colantuoni C, Dulac C, Fan R, Gillis J, Kriegstein A, Krienen F, Kim Y, Linnarsson S, Mitra P, Pollen A, Sestan N, Tward D, van Velthoven C, Yao Z, Bhaduri A, Zeng H. The new frontier in understanding human and mammalian brain development. Nature 2025, 647: 51-59. PMID: 41193845, PMCID: PMC13108688, DOI: 10.1038/s41586-025-09652-1.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords
Unique and divergent features of human brain development
Salamon I, Doyle D, Bandler R, Pattabiraman K, Sestan N. Unique and divergent features of human brain development. Current Opinion In Neurobiology 2025, 95: 103133. PMID: 41187489, PMCID: PMC12626412, DOI: 10.1016/j.conb.2025.103133.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords
Early developmental origins of cortical disorders modeled in human neural stem cells
Mato-Blanco X, Kim S, Jourdon A, Ma S, Choi S, Giani A, Paredes M, Tebbenkamp A, Liu F, Duque A, Vaccarino F, Sestan N, Colantuoni C, Rakic P, Santpere G, Micali N. Early developmental origins of cortical disorders modeled in human neural stem cells. Nature Communications 2025, 16: 6347. PMID: 40634286, PMCID: PMC12241556, DOI: 10.1038/s41467-025-61316-w.
Peer-Reviewed Original Research
MeSH Keywords
Higher dopamine D1 receptor expression in prefrontal parvalbumin neurons underlies higher distractibility in marmosets versus macaques
Joyce M, Ivanov T, Krienen F, Mitchell J, Ma S, Inoue W, Nandy A, Datta D, Duque A, Arellano J, Gupta R, Gonzalez-Burgos G, Lewis D, Sestan N, McCarroll S, Martinez-Trujillo J, Froudist-Walsh S, Arnsten A. Higher dopamine D1 receptor expression in prefrontal parvalbumin neurons underlies higher distractibility in marmosets versus macaques. Communications Biology 2025, 8: 974. PMID: 40594842, PMCID: PMC12214923, DOI: 10.1038/s42003-025-08297-0.
Peer-Reviewed Original Research
MeSH Keywords
Single-cell transcriptomic and chromatin dynamics of the human brain in PTSD
Hwang A, Skarica M, Xu S, Coudriet J, Lee C, Lin L, Terwilliger R, Sliby A, Wang J, Nguyen T, Li H, Wu M, Dai Y, Duan Z, Srinivasan S, Zhang X, Cruz D, Deans P, Huber B, Levey D, Glausier J, Lewis D, Gelernter J, Holtzheimer P, Friedman M, Gerstein M, Sestan N, Brennand K, Xu K, Zhao H, Krystal J, Young K, Williamson D, Che A, Zhang J, Girgenti M. Single-cell transcriptomic and chromatin dynamics of the human brain in PTSD. Nature 2025, 643: 744-754. PMID: 40533550, PMCID: PMC12267058, DOI: 10.1038/s41586-025-09083-y.
Peer-Reviewed Original Research
Spatial transcriptomics reveals human cortical layer and area specification
Qian X, Coleman K, Jiang S, Kriz A, Marciano J, Luo C, Cai C, Manam M, Caglayan E, Lai A, Exposito-Alonso D, Otani A, Ghosh U, Shao D, Andersen R, Neil J, Johnson R, LeFevre A, Hecht J, Micali N, Sestan N, Rakic P, Miller M, Sun L, Stringer C, Li M, Walsh C. Spatial transcriptomics reveals human cortical layer and area specification. Nature 2025, 644: 153-163. PMID: 40369074, PMCID: PMC12328223, DOI: 10.1038/s41586-025-09010-1.
Peer-Reviewed Original Research
Decoding human brain evolution: Insights from genomics
Liu Y, Li M, Segal A, Zhang M, Sestan N. Decoding human brain evolution: Insights from genomics. Current Opinion In Neurobiology 2025, 92: 103033. PMID: 40334295, DOI: 10.1016/j.conb.2025.103033.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords
Mechanisms and strategies for organ recovery
Andrijevic D, Spajic A, Hameed I, Sheth K, Parnia S, Griesemer A, Montgomery R, Sestan N. Mechanisms and strategies for organ recovery. Nature Reviews Bioengineering 2025, 3: 596-611. DOI: 10.1038/s44222-025-00293-7.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
Specification of claustro-amygdalar and palaeocortical neurons and circuits
Kaur N, Kovner R, Gulden F, Pletikos M, Andrijevic D, Zhu T, Silbereis J, Shibata M, Shibata A, Liu Y, Ma S, Salla N, de Martin X, Klarić T, Burke M, Franjic D, Cho H, Yuen M, Chatterjee I, Soric P, Esakkimuthu D, Moser M, Santpere G, Mineur Y, Pattabiraman K, Picciotto M, Huang H, Sestan N. Specification of claustro-amygdalar and palaeocortical neurons and circuits. Nature 2025, 638: 469-478. PMID: 39814878, PMCID: PMC11821539, DOI: 10.1038/s41586-024-08361-5.
Peer-Reviewed Original Research
MeSH Keywords
The human and non-human primate developmental GTEx projects
Bell T, Blanchard T, Hernandez R, Linn R, Taylor D, VonDran M, Ahooyi T, Beitra D, Bernieh A, Delaney M, Faith M, Fattahi E, Footer D, Gilbert M, Guambaña S, Gulino S, Hanson J, Hattrell E, Heinemann C, Kreeb J, Leino D, Mcdevitt L, Palmieri A, Pfeiffer M, Pryhuber G, Rossi C, Rasool I, Roberts R, Salehi A, Savannah E, Stachowicz K, Stokes D, Suplee L, Van Hoose P, Wilkins B, Williams-Taylor S, Zhang S, Ardlie K, Getz G, Lappalainen T, Montgomery S, Aguet F, Anderson L, Bernstein B, Choudhary A, Domenech L, Gaskell E, Johnson M, Liu Q, Marderstein A, Nedzel J, Okonda J, Padhi E, Rosano M, Russell A, Walker B, Sestan N, Gerstein M, Milosavljevic A, Borsari B, Cho H, Clarke D, Deveau A, Galeev T, Hameed I, Huttner A, Jensen M, Jiang Y, Li J, Liu J, Liu Y, Ma J, Mane S, Meng R, Nadkarni A, Ni P, Park S, Petrosyan V, Pochareddy S, Salamon I, Xia Y, Yates C, Zhang M, Zhao H, Conrad D, Feng G, Brady F, Boucher M, Carbone L, Castro J, del Rosario R, Held M, Hennebold J, Lacey A, Lewis A, Lima A, Mahyari E, Moore S, Okhovat M, Roberts V, de Castro S, Wessel B, Zaniewski H, Zhang Q, Arguello A, Baroch J, Dayal J, Felsenfeld A, Ilekis J, Jose S, Lockhart N, Miller D, Minear M, Parisi M, Price A, Ramos E, Zou S. The human and non-human primate developmental GTEx projects. Nature 2025, 637: 557-564. PMID: 39815096, PMCID: PMC12013525, DOI: 10.1038/s41586-024-08244-9.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.
Peer-Reviewed Original Research

2024

Individual variation in the emergence of anterior-to-posterior neural fates from human pluripotent stem cells
Kim S, Seo S, Stein-O’Brien G, Jaishankar A, Ogawa K, Micali N, Luria V, Karger A, Wang Y, Kim H, Hyde T, Kleinman J, Voss T, Fertig E, Shin J, Bürli R, Cross A, Brandon N, Weinberger D, Chenoweth J, Hoeppner D, Sestan N, Colantuoni C, McKay R. Individual variation in the emergence of anterior-to-posterior neural fates from human pluripotent stem cells. Stem Cell Reports 2024, 19: 1336-1350. PMID: 39151428, PMCID: PMC11411333, DOI: 10.1016/j.stemcr.2024.07.004.
Peer-Reviewed Original Research
The single-cell opioid responses in the context of HIV (SCORCH) consortium
Ament S, Campbell R, Lobo M, Receveur J, Agrawal K, Borjabad A, Byrareddy S, Chang L, Clarke D, Gabuzda D, Gaulton K, Giglio M, Giorgi F, Gok B, Guda C, Hadas E, Herb B, Hu W, Huttner A, Ishmam M, Jacobs M, Kelschenbach J, Kim D, Lee C, Liu S, Liu X, Madras B, Mahurkar A, Mash D, Mukamel E, Niu M, O’Connor R, Pagan C, Pang A, Pillai P, Repunte-Canonigo V, Ruzicka W, Stanley J, Tickle T, Tsai S, Wang A, Wills L, Wilson A, Wright S, Xu S, Yang J, Zand M, Zhang L, Zhang J, Akbarian S, Buch S, Cheng C, Corley M, Fox H, Gerstein M, Gummuluru S, Heiman M, Ho Y, Kellis M, Kenny P, Kluger Y, Milner T, Moore D, Morgello S, Ndhlovu L, Rana T, Sanna P, Satterlee J, Sestan N, Spector S, Spudich S, Tilgner H, Volsky D, White O, Williams D, Zeng H. The single-cell opioid responses in the context of HIV (SCORCH) consortium. Molecular Psychiatry 2024, 29: 3950-3961. PMID: 38879719, PMCID: PMC11609103, DOI: 10.1038/s41380-024-02620-7.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
Single-cell genomics and regulatory networks for 388 human brains
Liu J, Clarke D, Jensen M, Warrell J, Gupta C, Meng R, Lee C, Xu S, Dursun C, Chen Y, Chu Z, Galeev T, Hwang A, Li Y, Ni P, Zhou X, Bakken T, Bendl J, Bicks L, Chatterjee T, Cheng L, Cheng Y, Dai Y, Duan Z, Flaherty M, Fullard J, Gancz M, Garrido-Martín D, Gaynor-Gillett S, Grundman J, Hawken N, Henry E, Hoffman G, Huang A, Jiang Y, Jin T, Jorstad N, Kawaguchi R, Khullar S, Liu J, Liu J, Liu S, Ma S, Margolis M, Mazariegos S, Moore J, Moran J, Nguyen E, Phalke N, Pjanic M, Pratt H, Quintero D, Rajagopalan A, Riesenmy T, Shedd N, Shi M, Spector M, Travaglini K, Wamsley B, Wang G, Xia Y, Xiao S, Yang A, Zheng S, Gandal M, Lee D, Lein E, Roussos P, Sestan N, Weng Z, White K, Won H, Girgenti M, Zhang J, Wang D, Geschwind D, Gerstein M, Akbarian S, Abyzov A, Ahituv N, Arasappan D, Almagro Armenteros J, Beliveau B, Berretta S, Bharadwaj R, Bhattacharya A, Brennand K, Capauto D, Champagne F, Chatzinakos C, Chen H, Cheng L, Chess A, Chien J, Clement A, Collado-Torres L, Cooper G, Crawford G, Dai R, Daskalakis N, Davila-Velderrain J, Deep-Soboslay A, Deng C, DiPietro C, Dracheva S, Drusinsky S, Duong D, Eagles N, Edelstein J, Galani K, Girdhar K, Goes F, Greenleaf W, Guo H, Guo Q, Hadas Y, Hallmayer J, Han X, Haroutunian V, He C, Hicks S, Ho M, Ho L, Huang Y, Huuki-Myers L, Hyde T, Iatrou A, Inoue F, Jajoo A, Jiang L, Jin P, Jops C, Jourdon A, Kellis M, Kleinman J, Kleopoulos S, Kozlenkov A, Kriegstein A, Kundaje A, Kundu S, Li J, Li M, Lin X, Liu S, Liu C, Loupe J, Lu D, Ma L, Mariani J, Martinowich K, Maynard K, Myers R, Micallef C, Mikhailova T, Ming G, Mohammadi S, Monte E, Montgomery K, Mukamel E, Nairn A, Nemeroff C, Norton S, Nowakowski T, Omberg L, Page S, Park S, Patowary A, Pattni R, Pertea G, Peters M, Pinto D, Pochareddy S, Pollard K, Pollen A, Przytycki P, Purmann C, Qin Z, Qu P, Raj T, Reach S, Reimonn T, Ressler K, Ross D, Rozowsky J, Ruth M, Ruzicka W, Sanders S, Schneider J, Scuderi S, Sebra R, Seyfried N, Shao Z, Shieh A, Shin J, Skarica M, Snijders C, Song H, Stein J, Steyert M, Subburaju S, Sudhof T, Snyder M, Tao R, Therrien K, Tsai L, Urban A, Vaccarino F, van Bakel H, Vo D, Voloudakis G, Wang T, Wang S, Wang Y, Wei Y, Weimer A, Weinberger D, Wen C, Whalen S, Willsey A, Wong W, Wu H, Wu F, Wuchty S, Wylie D, Yap C, Zeng B, Zhang P, Zhang C, Zhang B, Zhang Y, Ziffra R, Zeier Z, Zintel T. Single-cell genomics and regulatory networks for 388 human brains. Science 2024, 384: eadi5199-eadi5199. PMID: 38781369, PMCID: PMC11365579, DOI: 10.1126/science.adi5199.
Peer-Reviewed Original Research
MeSH Keywords

Additional Publications

Sestan N, Rakic P (2002) Notch signaling in the brain: More than just a developmental story. In Notch from Neurodevelopment to Neurodegeneration: Keeping the Fate. Fondation IPSEN. Israel A, De Strooper B, Checler F and Christen Y, Eds., Springer, Berlin, pp. 19-40.