Publications

2025

5. A rare case of 45X/46XY mosaic Turner syndrome in a neonateGarg A, Hittelman A, Lepore C, Gujral J, Derar N, Vash-Margita A. 5. A rare case of 45X/46XY mosaic Turner syndrome in a neonate. Journal Of Pediatric And Adolescent Gynecology 2025, 38: 232. DOI: 10.1016/j.jpag.2025.01.038.
Optimal evaluation policies to identify students with reading disabilitiesSuresh A, Kaplan E, Pinker E, Gruen J. Optimal evaluation policies to identify students with reading disabilities. Socio-Economic Planning Sciences 2025, 98: 102116. DOI: 10.1016/j.seps.2024.102116.
Cas12a-knock-in mice for multiplexed genome editing, disease modelling and immune-cell engineering.Tang K, Zhou L, Tian X, Fang SY, Vandenbulcke E, Du A, Shen J, Cao H, Zhou J, Chen K, Kim HR, Luo Z, Xin S, Lin SH, Park D, Yang L, Zhang Y, Suzuki K, Majety M, Ling X, Lam SZ, Chow RD, Ren P, Tao B, Li K, Codina A, Dai X, Shang X, Bai S, Nottoli T, Levchenko A, Booth CJ, Liu C, Fan R, Dong MB, Zhou X, Chen S. Cas12a-knock-in mice for multiplexed genome editing, disease modelling and immune-cell engineering. Nat Biomed Eng 2025 PMID: 40114032, DOI: 10.1038/s41551-025-01371-2.
Matrix-producing neutrophils populate and shield the skinVicanolo T, Özcan A, Li J, Huerta-López C, Ballesteros I, Rubio-Ponce A, Dumitru A, Nicolás-Ávila J, Molina-Moreno M, Reyes-Gutierrez P, Johnston A, Martone C, Greto E, Quílez-Alvarez A, Calvo E, Bonzon-Kulichenko E, Álvarez-Velez R, Chooi M, Kwok I, González-Bermúdez B, Malleret B, Espinosa F, Zhang M, Wang Y, Sun D, Zhen Chong S, El-Armouche A, Kim K, Udalova I, Greco V, Garcia R, Vázquez J, Dopazo A, Plaza G, Alegre-Cebollada J, Uderhardt S, Ng L, Hidalgo A. Matrix-producing neutrophils populate and shield the skin. Nature 2025, 1-9. PMID: 40108463, DOI: 10.1038/s41586-025-08741-5.
Spatial transcriptomics reveals differential inflammatory pathways in discoid lupus erythematosus and lichen planusKidacki M, Cho C, Lopez-Giraldez F, Breidbart R, Jaiswal A, Lee M, Chowdhury S, Damsky W, Chen L, Vesely M. Spatial transcriptomics reveals differential inflammatory pathways in discoid lupus erythematosus and lichen planus. Journal Of Investigative Dermatology 2025 PMID: 40113031, DOI: 10.1016/j.jid.2025.02.148.
Subcellular proteomics and iPSC modeling uncover reversible mechanisms of axonal pathology in Alzheimer’s diseaseCai Y, Kanyo J, Wilson R, Bathla S, Cardozo P, Tong L, Qin S, Fuentes L, Pinheiro-de-Sousa I, Huynh T, Sun L, Mansuri M, Tian Z, Gan H, Braker A, Trinh H, Huttner A, Lam T, Petsalaki E, Brennand K, Nairn A, Grutzendler J. Subcellular proteomics and iPSC modeling uncover reversible mechanisms of axonal pathology in Alzheimer’s disease. Nature Aging 2025, 5: 504-527. PMID: 40065072, PMCID: PMC11922768, DOI: 10.1038/s43587-025-00823-3.
Investigation of the protein corona and biodistribution profile of polymeric nanoparticles for intra-amniotic deliveryLynn A, Shin K, Eaton D, Rose M, Zhang X, Ene M, Grundler J, Deschenes E, Rivero R, Bracaglia L, Glazer P, Stitelman D, Saltzman W. Investigation of the protein corona and biodistribution profile of polymeric nanoparticles for intra-amniotic delivery. Biomaterials 2025, 320: 123238. PMID: 40064138, DOI: 10.1016/j.biomaterials.2025.123238.
Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogsLyu W, Li Y, Yao A, Tan Q, Zhang R, Zhao J, Guo K, Jiang Y, Tian R, Zhang Y. Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs. Translational Psychiatry 2025, 15: 76. PMID: 40050270, DOI: 10.1038/s41398-025-03296-5.
Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral functionZhang H, de Urturi D, Fernández-Tussy P, Huang Y, Jovin D, Zhang X, Huang S, Lek M, da Silva Catarino J, Sternak M, Citrin K, Swirski F, Gustafsson J, Greif D, Esplugues E, Biwer L, Suárez Y, Fernández-Hernando C. Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2417512122. PMID: 40035761, PMCID: PMC11912459, DOI: 10.1073/pnas.2417512122.
Recessive genetic contribution to congenital heart disease in 5,424 probandsDong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, Morton S, Zhang J, López-Giráldez F, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, Cnota J, Wagner M, Srivastava D, Bernstein D, Porter G, Newburger J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Seidman J, Chung W, Gelb B, Seidman C, Lifton R, Brueckner M. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2419992122. PMID: 40030011, PMCID: PMC11912448, DOI: 10.1073/pnas.2419992122.
TNFRSF1A and NCF1 May Act as Hub Genes in MastitisEkhtiyari M, Yousefi M, Samadian F, Ghaderi‐Zefrehei M, Neysi S, Shamsabadi J, Javanmard A, Shahriarpour H, Lesch B. TNFRSF1A and NCF1 May Act as Hub Genes in Mastitis. Veterinary Medicine And Science 2025, 11: e70278. PMID: 40028770, PMCID: PMC11875065, DOI: 10.1002/vms3.70278.
Implications of gene × environment interactions in post-traumatic stress disorder risk and treatmentSeah C, Sidamon-Eristoff A, Huckins L, Brennand K. Implications of gene × environment interactions in post-traumatic stress disorder risk and treatment. Journal Of Clinical Investigation 2025, 135: e185102. PMID: 40026250, PMCID: PMC11870735, DOI: 10.1172/jci185102.
Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.Ward T, Morton S, Venturini G, Tai W, Jang M, Gorham J, Delaughter D, Wasson L, Khazal Z, Homsy J, Gelb B, Chung W, Bruneau B, Brueckner M, Tristani-Firouzi M, DePalma S, Seidman C, Seidman J. Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. Journal Of The American Heart Association 2025, 14: e036860. PMID: 40028843, DOI: 10.1161/jaha.124.036860.
A multicenter cross-sectional study of gambling disorder among patients with methamphetamine use disorder in drug rehabilitation centers: prevalence, correlates, and network analysisPeng P, Hao Y, Zhang X, Ma Y, Liu X, Shen D, Shen W, Zhao B, Li D, Beck S, Nunez Y, Potenza M, Gelernter J, Liu T, Yang B. A multicenter cross-sectional study of gambling disorder among patients with methamphetamine use disorder in drug rehabilitation centers: prevalence, correlates, and network analysis. Annals Of General Psychiatry 2025, 24: 12. PMID: 40033412, PMCID: PMC11877697, DOI: 10.1186/s12991-025-00546-0.
Sensitive detection of synthetic response to cancer immunotherapy driven by gene paralog pairsDong C, Zhang F, He E, Ren P, Verma N, Zhu X, Feng D, Cai J, Zhao H, Chen S. Sensitive detection of synthetic response to cancer immunotherapy driven by gene paralog pairs. Patterns 2025, 6: 101184. DOI: 10.1016/j.patter.2025.101184.
Deep multimodal representations and classification of first-episode psychosis via live face processingSingh R, Zhang Y, Bhaskar D, Srihari V, Tek C, Zhang X, Noah J, Krishnaswamy S, Hirsch J. Deep multimodal representations and classification of first-episode psychosis via live face processing. Frontiers In Psychiatry 2025, 16: 1518762. PMID: 40134976, PMCID: PMC11934110, DOI: 10.3389/fpsyt.2025.1518762.
Modeling forebrain regional development and connectivity by human brain organoidsChoe M, Lo C, Park I. Modeling forebrain regional development and connectivity by human brain organoids. Current Opinion In Genetics & Development 2025, 91: 102324. PMID: 39983347, DOI: 10.1016/j.gde.2025.102324.
PD-1H (VISTA) expression in cutaneous squamous cell carcinoma is correlated with T cell infiltration and activationKidacki M, Cho C, Lopez-Giraldez F, Huang B, He J, Gaule P, Chen L, Vesely M. PD-1H (VISTA) expression in cutaneous squamous cell carcinoma is correlated with T cell infiltration and activation. Journal Of Investigative Dermatology 2025 PMID: 39983979, DOI: 10.1016/j.jid.2025.01.030.
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?Prendergast A, Sheppard M, Famulski J, Nicoli S, Mukherjee S, Sips P, Elefteriades J. Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Frontiers In Cardiovascular Medicine 2025, 12: 1480407. PMID: 40066353, PMCID: PMC11892108, DOI: 10.3389/fcvm.2025.1480407.
γ-secretase facilitates retromer-mediated retrograde transportTakeo Y, Crite M, Mehmood K, DiMaio D. γ-secretase facilitates retromer-mediated retrograde transport. Journal Of Cell Science 2025, 138: jcs263538. PMID: 39865938, PMCID: PMC11883284, DOI: 10.1242/jcs.263538.
KLF2 maintains lineage fidelity and suppresses CD8 T cell exhaustion during acute LCMV infectionFagerberg E, Attanasio J, Dien C, Singh J, Kessler E, Abdullah L, Shen J, Hunt B, Connolly K, De Brouwer E, He J, Iyer N, Buck J, Borr E, Damo M, Foster G, Giles J, Huang Y, Tsang J, Krishnaswamy S, Cui W, Joshi N. KLF2 maintains lineage fidelity and suppresses CD8 T cell exhaustion during acute LCMV infection. Science 2025, 387: eadn2337. PMID: 39946463, DOI: 10.1126/science.adn2337.
Decoding Cattle (Bos taurus) Diacylglycerol Acyltransferase (DGAT) Gene Families: A Pathway to Functional UnderstandingEsfahani E, Mahyari S, Davoodi P, Ghaderi-Zefrehei M, Lesch B. Decoding Cattle (Bos taurus) Diacylglycerol Acyltransferase (DGAT) Gene Families: A Pathway to Functional Understanding. Journal Of Heredity 2025, esae079. PMID: 39932434, DOI: 10.1093/jhered/esae079.
Specificity, Co-Occurrence, and Growth: Math and Reading Skill Development in Children With Learning Disabilities.Connors K, Guertin E, Nichol M, Bosson-Heenan J, Gruen J, Frijters J. Specificity, Co-Occurrence, and Growth: Math and Reading Skill Development in Children With Learning Disabilities. Journal Of Learning Disabilities 2025, 222194241312189. PMID: 39924773, DOI: 10.1177/00222194241312189.
Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratodermaJiang X, Mortlock R, Lomakin I, Zhou J, Hu R, Cossio M, Bunick C, Choate K. Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma. British Journal Of Dermatology 2025, ljaf049. PMID: 39913669, DOI: 10.1093/bjd/ljaf049.
Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signalingKim Y, Kim M, Kim S, Lee R, Ujihara Y, Marquez-Wilkins E, Jiang Y, Yang E, Kim H, Lee C, Park C, Kim I. Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling. Nature Communications 2025, 16: 1407. PMID: 39915488, PMCID: PMC11802743, DOI: 10.1038/s41467-025-56720-1.
Author Correction: Multiplexed inhibition of immunosuppressive genes with Cas13d for combinatorial cancer immunotherapyZhang F, Chow R, He E, Dong C, Xin S, Mirza D, Feng Y, Tian X, Verma N, Majety M, Zhang Y, Wang G, Chen S. Author Correction: Multiplexed inhibition of immunosuppressive genes with Cas13d for combinatorial cancer immunotherapy. Nature Biotechnology 2025, 1-1. PMID: 39901026, DOI: 10.1038/s41587-025-02576-1.
G3BP1 ribonucleoprotein complexes regulate focal adhesion protein mobility and cell migrationBoraas L, Hu M, Martino P, Thornton L, Vejnar C, Zhen G, Zeng L, Parker D, Cox A, Giraldez A, Su X, Mayr C, Wang S, Nicoli S. G3BP1 ribonucleoprotein complexes regulate focal adhesion protein mobility and cell migration. Cell Reports 2025, 44: 115237. PMID: 39883578, PMCID: PMC11923778, DOI: 10.1016/j.celrep.2025.115237.
Abstract 76: Characterization of the Cerebral Aneurysm Microenvironment Using Spatial MultiomicsBarak T, Gultekin B, Kilic D, Avsar T, Miyagishima D, Kivrak C, Peksen A, Gutierrez A, Karadag C, Yalcin K, Ercan-Sencicek A, McGuone D, Bayri Y, Kilic T, Gunel M. Abstract 76: Characterization of the Cerebral Aneurysm Microenvironment Using Spatial Multiomics. Stroke 2025, 56: a76-a76. DOI: 10.1161/str.56.suppl_1.76.
Psychometric properties and socio-demographic correlates of the Connor-Davidson Resilience Scale in three large population-based cohorts including Danish and Icelandic adultsDidriksen M, Daníelsdottir H, Bjarnadóttir M, Overstreet C, Choi K, Christoffersen L, Mikkelsen C, Aspelund T, Hauksdóttir A, Thordardottir B, Jakobsdóttir J, Tómasson G, Erikstrup C, Aagaard B, Bruun M, Ullum H, Sørensen E, Fischer I, Pietrzak R, Gelernter J, Campbell-Sills L, Stein M, Werge T, Pedersen O, Valdimarsdóttir U, Ostrowski S, Schork A. Psychometric properties and socio-demographic correlates of the Connor-Davidson Resilience Scale in three large population-based cohorts including Danish and Icelandic adults. Journal Of Mood And Anxiety Disorders 2025, 100112. DOI: 10.1016/j.xjmad.2025.100112.
S154 Polygenic Scores for Psychiatric Traits Are Associated With Substance Use Phenotypes in a Deeply Phenotyped SampleHartwell E, Jinwala Z, Gelernter J, Kranzler H, Kember R. S154 Polygenic Scores for Psychiatric Traits Are Associated With Substance Use Phenotypes in a Deeply Phenotyped Sample. Drug And Alcohol Dependence 2025, 267: 111574. DOI: 10.1016/j.drugalcdep.2024.111574.
Resolving the three-dimensional interactome of human accelerated regions during human and chimpanzee neurodevelopmentPal A, Noble M, Morales M, Pal R, Baumgartner M, Yang J, Yim K, Uebbing S, Noonan J. Resolving the three-dimensional interactome of human accelerated regions during human and chimpanzee neurodevelopment. Cell 2025, 188: 1504-1523.e27. PMID: 39889695, PMCID: PMC11928272, DOI: 10.1016/j.cell.2025.01.007.
Investigating the contribution of coding variants in alcohol use disorder using whole-exome sequencing across ancestriesWang L, Kranzler H, Gelernter J, Zhou H. Investigating the contribution of coding variants in alcohol use disorder using whole-exome sequencing across ancestries. Biological Psychiatry 2025 PMID: 39892688, DOI: 10.1016/j.biopsych.2025.01.020.
Drosophila Modulo is essential for transposon silencing and developmental robustnessParikh R, Nayak D, Lin H, Gangaraju V. Drosophila Modulo is essential for transposon silencing and developmental robustness. Journal Of Biological Chemistry 2025, 301: 108210. PMID: 39848495, PMCID: PMC11879677, DOI: 10.1016/j.jbc.2025.108210.
Multiplexed inhibition of immunosuppressive genes with Cas13d for combinatorial cancer immunotherapyZhang F, Chow R, He E, Dong C, Xin S, Mirza D, Feng Y, Tian X, Verma N, Majety M, Zhang Y, Wang G, Chen S. Multiplexed inhibition of immunosuppressive genes with Cas13d for combinatorial cancer immunotherapy. Nature Biotechnology 2025, 1-14. PMID: 39820813, DOI: 10.1038/s41587-024-02535-2.
Interleukin-10 exhibit dose-dependent effects on macrophage phenotypes and cardiac remodeling after myocardial infarctionZhang J, Rizk R, Li X, Lee B, Matthies M, Bietz K, Kim K, Huard J, Wang Y, Chen W. Interleukin-10 exhibit dose-dependent effects on macrophage phenotypes and cardiac remodeling after myocardial infarction. Frontiers In Physiology 2025, 15: 1481460. PMID: 39882328, PMCID: PMC11774956, DOI: 10.3389/fphys.2024.1481460.
Specification of claustro-amygdalar and palaeocortical neurons and circuitsKaur 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.
The human and non-human primate developmental GTEx projectsBell 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, Gobeske K, 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, DOI: 10.1038/s41586-024-08244-9.
Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapiesConsortium M, Adams M, Streit F, Meng X, Awasthi S, Adey B, Choi K, Chundru V, Coleman J, Ferwerda B, Foo J, Gerring Z, Giannakopoulou O, Gupta P, Hall A, Harder A, Howard D, Hübel C, Kwong A, Levey D, Mitchell B, Ni G, Ota V, Pain O, Pathak G, Schulte E, Shen X, Thorp J, Walker A, Yao S, Zeng J, Zvrskovec J, Aarsland D, Actkins K, Adli M, Agerbo E, Aichholzer M, Aiello A, Air T, Als T, Andersson E, Andlauer T, Arolt V, Ask H, Bäckman J, Badola S, Ballard C, Banasik K, Bass N, Beekman A, Belangero S, Bigdeli T, Binder E, Bjerkeset O, Bjornsdottir G, Børte S, Bränn E, Braun A, Brodersen T, Brückl T, Brunak S, Bruun M, Burmeister M, Buspavanich P, Bybjerg-Grauholm J, Byrne E, Cai J, Campbell A, Campbell M, Campos A, Castelao E, Cervilla J, Chaumette B, Chen C, Chen H, Chen Z, Cichon S, Colodro-Conde L, Corbett A, Corfield E, Couvy-Duchesne B, Craddock N, Dannlowski U, Davies G, de Geus E, Deary I, Degenhardt F, Dehghan A, DePaulo J, Deuschle M, Didriksen M, Dinh K, Direk N, Djurovic S, Docherty A, Domschke K, Dowsett J, Drange O, Dunn E, Eaton W, Einarsson G, Eley T, Elsheikh S, Engelmann J, Benros M, Erikstrup C, Escott-Price V, Fabbri C, Fang Y, Finer S, Frank J, Free R, Gallo L, Gao H, Gill M, Gilles M, Goes F, Gordon S, Grove J, Gudbjartsson D, Gutierrez B, Hahn T, Hall L, Hansen T, Haraldsson M, Hartman C, Havdahl A, Hayward C, Heilmann-Heimbach S, Herms S, Hickie I, Hjalgrim H, Hjerling-Leffler J, Hoffmann P, Homuth G, Horn C, Hottenga J, Hougaard D, Hovatta I, Huang Q, Hucks D, Huider F, Hunt K, Ialongo N, Ising M, Isometsä E, Jansen R, Jiang Y, Jones I, Jones L, Jonsson L, Kanai M, Karlsson R, Kasper S, Kendler K, Kessler R, Kloiber S, Knowles J, Koen N, Kraft J, Kranzler H, Krebs K, Kallak T, Kutalik Z, Lahtela E, Lake M, Larsen M, Lenze E, Lewins M, Lewis G, Li L, Lin B, Lin K, Lind P, Liu Y, MacIntyre D, MacKinnon D, Maher B, Maier W, Marshe V, Martinez-Levy G, Matsuda K, Mbarek H, McGuffin P, Medland S, Meinert S, Mikkelsen C, Mikkelsen S, Milaneschi Y, Millwood I, Molina E, Mondimore F, Mortensen P, Mulsant B, Naamanka J, Najman J, Nauck M, Nenadić I, Nielsen K, Nolt I, Nordentoft M, Nöthen M, Nyegaard M, O'Donovan M, Oddsson A, Oliveira A, Olsen C, Oskarsson H, Ostrowski S, Owen M, Packer R, Palviainen T, Pan P, Pato C, Pato M, Pedersen N, Pedersen O, Peyrot W, Potash J, Preisig M, Preuss M, Quiroz J, Renteria M, Reynolds C, Rice J, Sakaue S, Santoro M, Schoevers R, Schork A, Schulze T, Send T, Shi J, Sigurdsson E, Singh K, Sinnamon G, Sirignano L, Smeland O, Smith D, Sofer T, Sørensen E, Srinivasan S, Stefansson H, Stefansson K, Straub P, Su M, Tadic A, Teismann H, Teumer A, Thapar A, Thomson P, Thørner L, Topaloudi A, Tsai S, Tzoulaki I, Uhl G, Uitterlinden A, Ullum H, Umbricht D, Ursano R, Van der Auwera S, van Hemert A, Veluchamy A, Viktorin A, Völzke H, Walters G, Wang X, Wani A, Weissman M, Wellmann J, Whiteman D, Wildman D, Willemsen G, Williams A, Winsvold B, Witt S, Xiong Y, Zillich L, Zwart J, Team T, Group C, Team E, Team G, Psychiatry H, Project T, Program V, Andreassen O, Baune B, Berger K, Boomsma D, Børglum A, Breen G, Cai N, Coon H, Copeland W, Creese B, Cruz-Fuentes C, Czamara D, Davis L, Derks E, Domenici E, Elliott P, Forstner A, Gawlik M, Gelernter J, Grabe H, Hamilton S, Hveem K, John C, Kaprio J, Kircher T, Krebs M, Kuo P, Landén M, Lehto K, Levinson D, Li Q, Lieb K, Loos R, Lu Y, Lucae S, Luykx J, Maes H, Magnusson P, Martin H, Martin N, McQuillin A, Middeldorp C, Milani L, Mors O, Müller D, Müller-Myhsok B, Okada Y, Oldehinkel A, Paciga S, Palmer C, Paschou P, Penninx B, Perlis R, Peterson R, Pistis G, Polimanti R, Porteous D, Posthuma D, Rabinowitz J, Reichborn-Kjennerud T, Reif A, Rice F, Ricken R, Rietschel M, Rivera M, Rück C, Salum G, Schaefer C, Sen S, Serretti A, Skalkidou A, Smoller J, Stein D, Stein F, Stein M, Sullivan P, Tesli M, Thorgeirsson T, Tiemeier H, Timpson N, Uddin M, Uher R, van Heel D, Verweij K, Walters R, Wassertheil-Smoller S, Wendland J, Werge T, Zwinderman A, Kuchenbaecker K, Wray N, Ripke S, Lewis C, McIntosh A. Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies. Cell 2025, 188: 640-652.e9. PMID: 39814019, PMCID: PMC11829167, DOI: 10.1016/j.cell.2024.12.002.
Double or nothing: Ancient duplications in the amylase locus drove human adaptation.Silverman S, Massilani D. Double or nothing: Ancient duplications in the amylase locus drove human adaptation. Cell Genom 2025, 5: 100741. PMID: 39788100, DOI: 10.1016/j.xgen.2024.100741.
Identification of risk variants and cross-disorder pleiotropy through multi-ancestry genome-wide analysis of alcohol use disorderIcick R, Shadrin A, Holen B, Karadag N, Parker N, O’Connell K, Frei O, Bahrami S, Høegh M, Lagerberg T, Cheng W, Seibert T, Djurovic S, Dale A, Zhou H, Edenberg H, Gelernter J, Smeland O, Hindley G, Andreassen O. Identification of risk variants and cross-disorder pleiotropy through multi-ancestry genome-wide analysis of alcohol use disorder. Nature Mental Health 2025, 3: 253-265. DOI: 10.1038/s44220-024-00353-8.
CFTR haplotype phasing using long-read genome sequencing from ultralow input DNAGandotra N, Tyagi A, Tikhonova I, Storer C, Scharfe C. CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA. Genetics In Medicine Open 2025, 3: 101962. PMID: 40027236, PMCID: PMC11869909, DOI: 10.1016/j.gimo.2025.101962.
Metabolic rewiring in skin epidermis drives tolerance to oncogenic mutationsHemalatha A, Li Z, Gonzalez D, Matte-Martone C, Tai K, Lathrop E, Gil D, Ganesan S, Gonzalez L, Skala M, Perry R, Greco V. Metabolic rewiring in skin epidermis drives tolerance to oncogenic mutations. Nature Cell Biology 2025, 27: 218-231. PMID: 39762578, PMCID: PMC11821535, DOI: 10.1038/s41556-024-01574-w.
MAT2A inhibitor AG-270/S095033 in patients with advanced malignancies: a phase I trialGounder M, Johnson M, Heist R, Shapiro G, Postel-Vinay S, Wilson F, Garralda E, Wulf G, Almon C, Nabhan S, Aguado-Fraile E, He P, Romagnoli M, Hossain M, Narayanaswamy R, Sadou-Dubourgnoux A, Cooper M, Askoxylakis V, Burris H, Tabernero J. MAT2A inhibitor AG-270/S095033 in patients with advanced malignancies: a phase I trial. Nature Communications 2025, 16: 423. PMID: 39762248, PMCID: PMC11704051, DOI: 10.1038/s41467-024-55316-5.
CFTR haplotype phasing using long-read genome sequencing from ultra-low input DNACFTR haplotype phasing using long-read genome sequencing from ultra-low input DNA N Gandotra, A Tyagi, I Tikhonova, C Storer, C Scharfe - Genetics in Medicine Open, 2025
Biology of Hox Genes: Questions and Technological ChallengesParambil S, De Kumar B. Biology of Hox Genes: Questions and Technological Challenges. Methods In Molecular Biology 2025, 2889: 1-10. PMID: 39745601, DOI: 10.1007/978-1-0716-4322-8_1.
Guidelines to Analyze ChIP-Seq Data: Journey Through QC and Analysis ConsiderationsDe Kumar B, Krishnan J. Guidelines to Analyze ChIP-Seq Data: Journey Through QC and Analysis Considerations. Methods In Molecular Biology 2025, 2889: 193-206. PMID: 39745614, DOI: 10.1007/978-1-0716-4322-8_14.
Phenotype Spectrum of TRPM3‐Associated DisordersJolitz L, Helbig I, Fitzgerald M, Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen H, Cuppen I, Christodoulou J, Wilson M, Lake N, Biskup S, Syrbe S, Mori T, Becker L, Kaindl A. Phenotype Spectrum of TRPM3‐Associated Disorders. Annals Of Neurology 2025, 97: 561-570. PMID: 39749750, PMCID: PMC11831877, DOI: 10.1002/ana.27141.
Utility of Candidate Genes From an Algorithm Designed to Predict Genetic Risk for Opioid Use DisorderDavis C, Jinwala Z, Hatoum A, Toikumo S, Agrawal A, Rentsch C, Edenberg H, Baurley J, Hartwell E, Crist R, Gray J, Justice A, Gelernter J, Kember R, Kranzler H, Muralidhar S, Moser J, Deen J, Tsao P, Gaziano J, Hauser E, Kilbourne A, Matheny M, Oslin D, Churby L, Whitbourne S, Brewer J, Shayan S, Selva L, Pyarajan S, Cho K, DuVall S, Brophy M, Stephens B, Connor T, Argyres D, Assimes T, Hung A, Kranzler H, Aguayo S, Ahuja S, Alexander K, Androulakis X, Balasubramanian P, Ballas Z, Beckham J, Bhushan S, Boyko E, Cohen D, Dellitalia L, Faulk L, Fayad J, Fujii D, Gappy S, Gesek F, Greco J, Godschalk M, Gress T, Gupta S, Gutierrez S, Harley J, Hamner M, Hurley R, Iruvanti P, Jacono F, Jhala D, Kinlay S, Landry M, Liang P, Liangpunsakul S, Lichy J, Mahan C, Marrache R, Mastorides S, Mattocks K, Meyer P, Moorman J, Morgan T, Murdoch M, Norton J, Okusaga O, Oursler K, Poon S, Rauchman M, Servatius R, Sharma S, Smith R, Sriram P, Strollo P, Tandon N, Villareal G, Walsh J, Wells J, Whittle J, Whooley M, Wilson P, Xu J, Yeh S, Bast E, Dryden G, Hogan D, Joshi S, Lo T, Morales P, Naik E, Ong M, Petrakis I, Rai A, Yen A. Utility of Candidate Genes From an Algorithm Designed to Predict Genetic Risk for Opioid Use Disorder. JAMA Network Open 2025, 8: e2453913. PMID: 39786773, PMCID: PMC11718552, DOI: 10.1001/jamanetworkopen.2024.53913.
6 Ichthyosiform Dermatoses ☆ ☆ This article is a revision of the previous edition article by Howard P. Baden and John J. DiGiovanna, © 2013, Elsevier Ltd.Echeandia-Francis C, Baden H, DiGiovanna J, Choate K. 6 Ichthyosiform Dermatoses ☆ ☆ This article is a revision of the previous edition article by Howard P. Baden and John J. DiGiovanna, © 2013, Elsevier Ltd. 2025, 209-243. DOI: 10.1016/b978-0-12-812531-1.00003-8.
Dysregulation of mTOR signalling is a converging mechanism in lissencephalyZhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, 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.
Application of Stem Cells to Understanding Psychiatric DisordersBirtele M, Quadrato G, Brennand K. Application of Stem Cells to Understanding Psychiatric Disorders. 2025, 53-64. DOI: 10.1093/med/9780197640654.003.0005.
Cross-modal sensory compensation increases mosquito attraction to humansMorita T, Lyn N, von Heynitz R, Goldman O, Sorrells T, DeGennaro M, Matthews B, Houri-Zeevi L, Vosshall L. Cross-modal sensory compensation increases mosquito attraction to humans. Science Advances 2025, 11: eadn5758. PMID: 39742477, PMCID: PMC11691641, DOI: 10.1126/sciadv.adn5758.

2024

Bioinformatics analysis of myelin-microbe interactions suggests multiple types of molecular mimicry in the pathogenesis of multiple sclerosisBigdeli A, Ghaderi-Zefrehei M, Lesch B, Behmanesh M, Arab S. Bioinformatics analysis of myelin-microbe interactions suggests multiple types of molecular mimicry in the pathogenesis of multiple sclerosis. PLOS ONE 2024, 19: e0308817. PMID: 39775333, PMCID: PMC11684644, DOI: 10.1371/journal.pone.0308817.
NaP-TRAP reveals the regulatory grammar in 5’UTR-mediated translation regulation during zebrafish developmentStrayer E, Krishna S, Lee H, Vejnar C, Neuenkirchen N, Gupta A, Beaudoin J, Giraldez A. NaP-TRAP reveals the regulatory grammar in 5’UTR-mediated translation regulation during zebrafish development. Nature Communications 2024, 15: 10898. PMID: 39738051, PMCID: PMC11685710, DOI: 10.1038/s41467-024-55274-y.
Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesityGaluppo B, Mannam P, Bonet J, Pierpont B, Trico’ D, Haskell-Luevano C, Ericson M, Freeman K, Philbrick W, Bale A, Caprio S, Santoro N. Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity. International Journal Of Obesity 2024, 1-8. PMID: 39738493, DOI: 10.1038/s41366-024-01706-0.
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impactMondragon-Estrada E, Newburger J, DePalma S, Brueckner M, Cleveland J, Chung W, Gelb B, Goldmuntz E, Hagler D, Huang H, McQuillen P, Miller T, Panigrahy A, Porter G, Roberts A, Rollins C, Russell M, Tristani-Firouzi M, Grant P, Im K, Morton S. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. IScience 2024, 28: 111707. PMID: 39877905, PMCID: PMC11772982, DOI: 10.1016/j.isci.2024.111707.
High p16INK4A expression in glioblastoma is associated with senescence phenotype and better prognosisPark S, Roh T, Tanaka Y, Kim Y, Park S, Kim T, Eom S, Park T, Park I, Kim S, Kim J. High p16INK4A expression in glioblastoma is associated with senescence phenotype and better prognosis. Neoplasia 2024, 60: 101116. PMID: 39724755, PMCID: PMC11729681, DOI: 10.1016/j.neo.2024.101116.
Mapping the gene space at single-cell resolution with gene signal pattern analysisVenkat A, Leone S, Youlten S, Fagerberg E, Attanasio J, Joshi N, Perlmutter M, Krishnaswamy S. Mapping the gene space at single-cell resolution with gene signal pattern analysis. Nature Computational Science 2024, 4: 955-977. PMID: 39706866, DOI: 10.1038/s43588-024-00734-0.
A role for the kinetochore protein, NUF2, in ribosome biogenesis.Brown T, Pichurin J, Parrado C, Kabeche L, Baserga S. A role for the kinetochore protein, NUF2, in ribosome biogenesis. Molecular Biology Of The Cell 2024, 36: ar16. PMID: 39705402, PMCID: PMC11809303, DOI: 10.1091/mbc.e24-08-0337.
Statistical analysis supports pervasive RNA subcellular localization and alternative 3' UTR regulationBierman R, Dave J, Greif D, Salzman J. Statistical analysis supports pervasive RNA subcellular localization and alternative 3' UTR regulation. ELife 2024, 12: rp87517. PMID: 39699003, PMCID: PMC11658768, DOI: 10.7554/elife.87517.
Statistical analysis supports pervasive RNA subcellular localization and alternative 3' UTR regulationBierman R, Dave J, Greif D, Salzman J. Statistical analysis supports pervasive RNA subcellular localization and alternative 3' UTR regulation. ELife 2024, 12 DOI: 10.7554/elife.87517.2.
Genetic Analysis of Epidermal Inclusion Cysts Reveals NEK9 as a Common Driver of Comedogenesis and Cyst FormationEllis K, Myung P, Cohen J, Choate K. Genetic Analysis of Epidermal Inclusion Cysts Reveals NEK9 as a Common Driver of Comedogenesis and Cyst Formation. Journal Of Investigative Dermatology 2024 PMID: 39706256, DOI: 10.1016/j.jid.2024.07.039.
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegalyAllington G, Mehta N, Dennis E, Mekbib K, Reeves B, Kiziltug E, Chen S, Zhao S, Duy P, Saleh M, Ang L, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton R, Alper S, McGee S, Jin S, Kahle K. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain 2024, awae395. PMID: 39680505, DOI: 10.1093/brain/awae395.
Vascular endothelial cells derived from transgene-free pig induced pluripotent stem cells for vascular tissue engineeringBatty L, Park J, Qin L, Riaz M, Lin Y, Xu Z, Gao X, Li X, Lopez C, Zhang W, Hoareau M, Fallon M, Huang Y, Luo H, Luo J, Ménoret S, Li P, Jiang Z, Smith P, Sachs D, Tellides G, Anegon I, Pober J, Liu P, Qyang Y. Vascular endothelial cells derived from transgene-free pig induced pluripotent stem cells for vascular tissue engineering. Acta Biomaterialia 2024, 193: 171-184. PMID: 39681154, DOI: 10.1016/j.actbio.2024.12.033.
Biodistribution of Polymeric Nanoparticles following in utero Delivery to a Nonhuman PrimateEaton D, Lynn A, Surprenant J, Deschenes E, Guerra M, Rivero R, Yung N, O'Connor M, Glazer P, Bahtiyar M, Saltzman W, Stitelman D. Biodistribution of Polymeric Nanoparticles following in utero Delivery to a Nonhuman Primate. Biomedicine Hub 2024, 10: 543138. PMID: 39845408, PMCID: PMC11753793, DOI: 10.1159/000543138.
Piwi regulates the usage of alternative transcription start sites in the Drosophila ovaryChen J, Liu N, Qi H, Neuenkirchen N, Huang Y, Lin H. Piwi regulates the usage of alternative transcription start sites in the Drosophila ovary. Nucleic Acids Research 2024, 53: gkae1160. PMID: 39657757, PMCID: PMC11724274, DOI: 10.1093/nar/gkae1160.
A framework for neural organoids, assembloids and transplantation studiesPașca S, Arlotta P, Bateup H, Camp J, Cappello S, Gage F, Knoblich J, Kriegstein A, Lancaster M, Ming G, Novarino G, Okano H, Parmar M, Park I, Reiner O, Song H, Studer L, Takahashi J, Temple S, Testa G, Treutlein B, Vaccarino F, Vanderhaeghen P, Young-Pearse T. A framework for neural organoids, assembloids and transplantation studies. Nature 2024, 639: 315-320. PMID: 39653126, DOI: 10.1038/s41586-024-08487-6.
Sex-stratified Genomic Structural Equation Models of Posttraumatic Stress Inform PTSD Etiology: L'utilisation de la modélisation génomique par équations structurelles stratifiée par sexe du stress post-traumatique pour expliquer l'étiologie du TSPTMoo-Choy A, Stein M, Gelernter J, Wendt F. Sex-stratified Genomic Structural Equation Models of Posttraumatic Stress Inform PTSD Etiology: L'utilisation de la modélisation génomique par équations structurelles stratifiée par sexe du stress post-traumatique pour expliquer l'étiologie du TSPT. The Canadian Journal Of Psychiatry 2024, 70: 117-126. PMID: 39654303, PMCID: PMC11629358, DOI: 10.1177/07067437241301016.
Author Correction: Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addictionKarlsson Linnér R, Mallard T, Barr P, Sanchez-Roige S, Madole J, Driver M, Poore H, de Vlaming R, Grotzinger A, Tielbeek J, Johnson E, Liu M, Rosenthal S, Ideker T, Zhou H, Kember R, Pasman J, Verweij K, Liu D, Vrieze S, Kranzler H, Gelernter J, Harris K, Tucker-Drob E, Waldman I, Palmer A, Harden K, Koellinger P, Dick D. Author Correction: Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. Nature Neuroscience 2024, 28: 213-213. PMID: 39643700, DOI: 10.1038/s41593-024-01853-7.
X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomesHasenbein T, Hoelzl S, Smith Z, Gerhardinger C, Gonner M, Aguilar-Pimentel A, Amarie O, Becker L, Calzada-Wack J, Dragano N, da Silva-Buttkus P, Garrett L, Hölter S, Kraiger M, Östereicher M, Rathkolb B, Sanz-Moreno A, Spielmann N, Wurst W, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Meissner A, Engelhardt S, Rinn J, Andergassen D. X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomes. Nature Communications 2024, 15: 10631. PMID: 39638999, PMCID: PMC11621363, DOI: 10.1038/s41467-024-54673-5.
Author Correction: Modeling gene × environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expressionSeah C, Breen M, Rusielewicz T, Bader H, Xu C, Hunter C, McCarthy B, Deans P, Chattopadhyay M, Goldberg J, Dobariya S, Desarnaud F, Makotkine I, Flory J, Bierer L, Staniskyte M, Noggle S, Huckins L, Paull D, Brennand K, Yehuda R. Author Correction: Modeling gene × environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression. Nature Neuroscience 2024, 28: 214-214. PMID: 39633181, PMCID: PMC11706769, DOI: 10.1038/s41593-024-01854-6.
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Smith W, Berry S, Bloom K, Brown C, Burton B, Demarest O, Jenkins G, Malinowski J, McBride K, Mroczkowski H, Scharfe C, Vockley J, Board of Directors A. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2024, 27: 101289. PMID: 39630157, DOI: 10.1016/j.gim.2024.101289.
Dysregulation in keratinocytes drives systemic lupus erythematosus onsetTian J, Shi L, Zhang D, Yao X, Zhao M, Kumari S, Lu J, Yu D, Lu Q. Dysregulation in keratinocytes drives systemic lupus erythematosus onset. Cellular & Molecular Immunology 2024, 22: 83-96. PMID: 39627610, PMCID: PMC11686216, DOI: 10.1038/s41423-024-01240-z.
Beta cells are essential drivers of pancreatic ductal adenocarcinoma development.Garcia CC, Venkat A, McQuaid DC, Agabiti S, Tong A, Cardone RL, Starble R, Sogunro A, Jacox JB, Ruiz CF, Kibbey RG, Krishnaswamy S, Muzumdar MD. Beta cells are essential drivers of pancreatic ductal adenocarcinoma development. BioRxiv 2024 PMID: 39677599, DOI: 10.1101/2024.11.29.626079.
Paralog Co-Targeting Identifies Selective Genetic Redundancies across Cancer Types.Gauthier-Coles G, Sheltzer J. Paralog Co-Targeting Identifies Selective Genetic Redundancies across Cancer Types. Cancer Discovery 2024, 14: 2312-2314. PMID: 39618283, DOI: 10.1158/2159-8290.cd-24-1349.
Posttraumatic Stress Disorder, Obesity, and Accelerated Epigenetic Aging Among US Military VeteransFischer I, Na P, Nagamatsu S, Jeste D, Cabrera-Mendoza B, Montalvo-Ortiz J, Krystal J, Polimanti R, Gelernter J, Pietrzak R. Posttraumatic Stress Disorder, Obesity, and Accelerated Epigenetic Aging Among US Military Veterans. JAMA Psychiatry 2024, 81: 1276-1277. PMID: 39476130, PMCID: PMC11581715, DOI: 10.1001/jamapsychiatry.2024.3403.
Functional analysis of regA paralog rlsD in Volvox carteri.Jiménez-Marín B, Ortega-Escalante JA, Tyagi A, Seah J, Olson BJSC, Miller SM. Functional analysis of regA paralog rlsD in Volvox carteri. Plant J 2024, 120: 1798-1825. PMID: 39436924, DOI: 10.1111/tpj.17081.
Examining Methylation at the Intersection of Genetic Risk To Alzheimer’s Disease And Alcohol Use DisorderPathak G, Pietrzak R, Levey D, Montalvo‐Ortiz J, Kranzler H, Gelernter J, Polimanti R. Examining Methylation at the Intersection of Genetic Risk To Alzheimer’s Disease And Alcohol Use Disorder. Alzheimer's & Dementia 2024, 20: e086508. PMCID: PMC11710760, DOI: 10.1002/alz.086508.
Examining Methylation at the Intersection of Genetic Risk To Alzheimer's Disease And Alcohol Use DisorderPathak G, Pietrzak R, Levey D, Montalvo‐Ortiz J, Kranzler H, Gelernter J, Polimanti R. Examining Methylation at the Intersection of Genetic Risk To Alzheimer's Disease And Alcohol Use Disorder. Alzheimer's & Dementia 2024, 20: e093693. PMCID: PMC11712840, DOI: 10.1002/alz.093693.
Circulating tumor-reactive KIR+CD8+ T cells suppress anti-tumor immunity in patients with melanomaLu B, Lucca L, Lewis W, Wang J, Nogueira C, Heer S, Rayon-Estrada V, Axisa P, Reeves S, Buitrago-Pocasangre N, Pham G, Kojima M, Wei W, Aizenbud L, Bacchiocchi A, Zhang L, Walewski J, Chiang V, Olino K, Clune J, Halaban R, Kluger Y, Coyle A, Kisielow J, Obermair F, Kluger H, Hafler D. Circulating tumor-reactive KIR+CD8+ T cells suppress anti-tumor immunity in patients with melanoma. Nature Immunology 2024, 26: 82-91. PMID: 39609626, DOI: 10.1038/s41590-024-02023-4.
Trellis tree-based analysis reveals stromal regulation of patient-derived organoid drug responsesZapatero M, Tong A, Opzoomer J, O'Sullivan R, Rodriguez F, Sufi J, Vlckova P, Nattress C, Qin X, Claus J, Hochhauser D, Krishnaswamy S, Tape C. Trellis tree-based analysis reveals stromal regulation of patient-derived organoid drug responses. Cell 2024, 187: 7335-7349. PMID: 39603238, DOI: 10.1016/j.cell.2024.11.023.
Hypoxia is linked to acquired resistance to immune checkpoint inhibitors in lung cancerRobles-Oteíza C, Hastings K, Choi J, Sirois I, Ravi A, Expósito F, de Miguel F, Knight J, López-Giráldez F, Choi H, Socci N, Merghoub T, Awad M, Getz G, Gainor J, Hellmann M, Caron É, Kaech S, Politi K. Hypoxia is linked to acquired resistance to immune checkpoint inhibitors in lung cancer. Journal Of Experimental Medicine 2024, 222: e20231106. PMID: 39585348, PMCID: PMC11602551, DOI: 10.1084/jem.20231106.
cis- and trans-regulatory contributions to a hierarchy of factors influencing gene expression variationKalra S, Lanno S, Sanchez G, Coolon J. cis- and trans-regulatory contributions to a hierarchy of factors influencing gene expression variation. Communications Biology 2024, 7: 1563. PMID: 39587248, PMCID: PMC11589579, DOI: 10.1038/s42003-024-07255-6.
The maternal-to-zygotic transition: reprogramming of the cytoplasm and nucleusKojima M, Hoppe C, Giraldez A. The maternal-to-zygotic transition: reprogramming of the cytoplasm and nucleus. Nature Reviews Genetics 2024, 26: 245-267. PMID: 39587307, PMCID: PMC11928286, DOI: 10.1038/s41576-024-00792-0.
Improved Prediction of Ligand–Protein Binding Affinities by Meta-modelingLee H, Emani P, Gerstein M. Improved Prediction of Ligand–Protein Binding Affinities by Meta-modeling. Journal Of Chemical Information And Modeling 2024, 64: 8684-8704. PMID: 39576762, PMCID: PMC11632770, DOI: 10.1021/acs.jcim.4c01116.
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasmsHong Y, Pasca S, Shi W, Puiu D, Lake N, Lek M, Ru M, Grove M, Prizment A, Joshu C, Platz E, Guallar E, Arking D, Gondek L. Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms. Nature Communications 2024, 15: 10133. PMID: 39578475, PMCID: PMC11584845, DOI: 10.1038/s41467-024-54443-3.
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from MaliBamba S, Sidibé L, Diallo S, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé M, Diarra S, Maiga A, Traoré O, Diallo S, Mefoung S, Touré A, Koné A, Jeffries L, Guinto C, Mis E, Fischbeck K, Khokha M, Lakhani S, Landouré G. Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers In Genetics 2024, 15: 1412442. PMID: 39624497, PMCID: PMC11609193, DOI: 10.3389/fgene.2024.1412442.
Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesisLi Y, Xu W, Cheng Y, Djenoune L, Zhuang C, Cox A, Britto C, Yuan S, Wang S, Sun Z. Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2402818121. PMID: 39541357, PMCID: PMC11588059, DOI: 10.1073/pnas.2402818121.
Abstract I001: Long noncoding RNAs at the intersection of cancer pathwaysDimitrova N. Abstract I001: Long noncoding RNAs at the intersection of cancer pathways. Molecular Cancer Therapeutics 2024, 23: i001-i001. DOI: 10.1158/1538-8514.rnadrivers24-i001.
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic predictionBraun A, Shekhar S, Levey D, Straub P, Kraft J, Panagiotaropoulou G, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas A, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir A, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein M, Fontanillas P, Kaprio J, Gelernter J, Davis L, Paschou P, Tannemaat M, Verschuuren J, Kuhlenbäumer G, Gregersen P, Huijbers M, Stascheit F, Meisel A, Ripke S. Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. Nature Communications 2024, 15: 9839. PMID: 39537604, PMCID: PMC11560923, DOI: 10.1038/s41467-024-53595-6.
Abstract 4120623: Sphingosine Kinase 1 Is Integral For Elastin Deficiency-induced Arterial HypermuscularizationSaito J, Dave J, Kabir I, xGallardo-Vara X, Hla T, Greif D. Abstract 4120623: Sphingosine Kinase 1 Is Integral For Elastin Deficiency-induced Arterial Hypermuscularization. Circulation 2024, 150: a4120623-a4120623. DOI: 10.1161/circ.150.suppl_1.4120623.
Evolutionary innovations in germline biology of placental mammals identified by transcriptomics of first-wave spermatogenesis in opossumMarshall K, Stadtmauer D, Maziarz J, Wagner G, Lesch B. Evolutionary innovations in germline biology of placental mammals identified by transcriptomics of first-wave spermatogenesis in opossum. Developmental Cell 2024, 60: 646-664.e8. PMID: 39536760, PMCID: PMC11859772, DOI: 10.1016/j.devcel.2024.10.013.
CYP2C gene polymorphisms in North African populationsMessaoudi M, Pakstis A, Boussetta S, Ben Ammar Elgaaied A, Kidd K, Cherni L. CYP2C gene polymorphisms in North African populations. Molecular Biology Reports 2024, 51: 1145. PMID: 39532754, DOI: 10.1007/s11033-024-10093-8.
Abstract 4143732: Mitochondrial DNA heteroplasmy and incident cardiovascular diseaseHong Y, Shi W, Puiu D, Lake N, Guallar E, Arking D. Abstract 4143732: Mitochondrial DNA heteroplasmy and incident cardiovascular disease. Circulation 2024, 150: a4143732-a4143732. DOI: 10.1161/circ.150.suppl_1.4143732.
Efficient and selective kidney targeting by chemically modified carbohydrate conjugatesKumar V, Wahane A, Tham M, Somlo S, Gupta A, Bahal R. Efficient and selective kidney targeting by chemically modified carbohydrate conjugates. Molecular Therapy 2024, 32: 4383-4400. PMID: 39532098, PMCID: PMC11638880, DOI: 10.1016/j.ymthe.2024.10.020.
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disordersBerger E, Jauss R, Ranells J, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis J, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake N, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh T, Holtz A, Haack T, Gold N, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet K, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay B, Arlt M, Anikar S, Almohammal M, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Abou Jamra R. Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders. Genetics In Medicine 2024, 101326. PMID: 39540377, DOI: 10.1016/j.gim.2024.101326.
Navigating human embryogenesis through tailored model selectionSozen B. Navigating human embryogenesis through tailored model selection. Nature Cell Biology 2024, 26: 1819-1821. PMID: 39528699, DOI: 10.1038/s41556-024-01525-5.
EPCO-35. GENOMIC CHARACTERIZATION OF GROWTH HORMONE SECRETING PITUITARY ADENOMASAlanya H, Yalcin K, Hilton B, Gultekin B, Mishra-Gorur K, McGuone D, Gunel M, Omay S, Erson-Omay Z. EPCO-35. GENOMIC CHARACTERIZATION OF GROWTH HORMONE SECRETING PITUITARY ADENOMAS. Neuro-Oncology 2024, 26: viii9-viii9. PMCID: PMC11553213, DOI: 10.1093/neuonc/noae165.0034.
Adamts1 and Cyst Expansion in Polycystic Kidney Disease.Kakade V, Akman Z, Motrapu M, Cassini M, Xu L, Moeckel G, Somlo S, Cantley L. Adamts1 and Cyst Expansion in Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2024 PMID: 39514301, DOI: 10.1681/asn.0000000557.
Dynamics of clustering rates in the Rhode Island HIV-1 epidemicNovitsky V, Steingrimsson J, Guang A, Dunn C, Howison M, Gillani F, Hague J, Fulton J, Bertrand T, Bhattarai L, MacAskill M, Bandy U, Hogan J, Kantor R. Dynamics of clustering rates in the Rhode Island HIV-1 epidemic. AIDS 2024, 39: 105-114. PMID: 39527774, PMCID: PMC11717628, DOI: 10.1097/qad.0000000000004062.

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