{"id":14817,"date":"2025-03-03T10:14:21","date_gmt":"2025-03-03T15:14:21","guid":{"rendered":"https:\/\/www.med.unc.edu\/genetics\/?p=14817"},"modified":"2025-03-03T10:44:28","modified_gmt":"2025-03-03T15:44:28","slug":"department-of-genetics-publications-for-february-2nd-march-1st-2025","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/department-of-genetics-publications-for-february-2nd-march-1st-2025\/","title":{"rendered":"Department of Genetics Publications for February 2nd – March 1st, 2025"},"content":{"rendered":"

\"UNCDepartment of Genetics faculty, postdocs, students and collaborators published 18 papers during February 2nd – March 1st 2025.<\/p>\n

 <\/p>\n

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.\u00a0<\/a><\/p>\n

Li X<\/strong>, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang MZ, DiCorpo D, Gaynor SM, Dey R, Arnett DK, Benjamin EJ, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly TN, Konigsberg I, Kooperberg C, Kral BG, Li C, Li Y<\/strong>, Lin H, Liu CT, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Mitchell BD, Montasser ME, Morrison AC, Naseri T, North KE, Palmer ND, Peyser PA, Psaty BM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari HK, Vasan RS, Viali S, Wang Z, Wessel J, Yanek LR, Yu B; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Dupuis J, Meigs JB, Auer PL, Raffield LM<\/strong>, Manning AK, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X.<\/p>\n

Nat Comput Sci. 2025 Feb 7. doi: 10.1038\/s43588-024-00764-8. Online ahead of print.<\/p>\n

PMID:\u00a039920506<\/p>\n

 <\/p>\n

Long-COVID incidence proportion in adults and children between 2020 and 2024.\u00a0<\/a><\/p>\n

Mandel H, Yoo YJ, Allen AJ, Abedian S, Verzani Z, Karlson EW, Kleinman LC, Mudumbi PC, Oliveira CR, Muszynski JA, Gross RS, Carton TW, Kim C, Taylor E, Park H, Divers J, Kelly JD, Arnold J, Geary CR, Zang C, Tantisira KG, Rhee KE, Koropsak M, Mohandas S, Vasey A, Mohammad Mosa AS, Haendel M<\/strong>, Chute CG, Murphy SN, O’Brien L, Szmuszkovicz J, Guthe N, Santana JL, De A, Bogie AL, Halabi KC, Mohanraj L, Kinser PA, Packard SE, Tuttle KR, Hirabayashi K, Kaushal R, Pfaff E, Weiner MG, Thorpe LE, Moffitt RA.<\/p>\n

Clin Infect Dis. 2025 Feb 5:ciaf046. doi: 10.1093\/cid\/ciaf046. Online ahead of print.<\/p>\n

PMID:\u00a039907495<\/p>\n

 <\/p>\n

Heritable dysregulation of DNA methylation may underlie the diabetogenic effects of paternal preconception exposure to inorganic arsenic in C57BL\/6J mice.\u00a0<\/a><\/p>\n

Hartwell HJ, Shang B, Douillet C, Bousquet AG, Liu T, Zou F, Ideraabdullah F<\/strong>, St\u00fdblo M, Fry RC.<\/p>\n

Toxicol Appl Pharmacol. 2025 Feb 1;496:117242. doi: 10.1016\/j.taap.2025.117242. Online ahead of print.<\/p>\n

PMID:\u00a039894169<\/p>\n

 <\/p>\n

Genetic insights into psychotic major depressive disorder: bridging the mood-psychotic disorder spectrum.\u00a0<\/a><\/p>\n

Nguyen TD, Meijsen JJ, Sigstr\u00f6m R, Kuja-Halkola R, Xiong Y, Harder A, Kowalec K, Pasman JA, Scarpa C, H\u00f6rbeck E, Jonsson L, H\u00e4gg S, Mullins N, O’Connell KS, Dalman C, Helenius D, Zetterberg R, Larsson H, Lichtenstein P, Andreassen OA, Werge T, Buil A, Land\u00e9n M, Sullivan PF<\/strong>, Lu Y.<\/p>\n

EBioMedicine. 2025 Jan 29;112:105576. doi: 10.1016\/j.ebiom.2025.105576. Online ahead of print.<\/p>\n

PMID:\u00a039889373<\/p>\n

 <\/p>\n

Chaperone dysfunction in motor neuron disease: new insights from studies of the SMN complex.\u00a0<\/a><\/p>\n

Matera AG.<\/strong><\/p>\n

Genetics. 2025 Feb 5:iyae223. doi: 10.1093\/genetics\/iyae223. Online ahead of print.<\/p>\n

PMID:\u00a039907139<\/p>\n

 <\/p>\n

In Search of Representative Translational Cancer Model Systems.\u00a0<\/a><\/p>\n

Trembath HE, Spanheimer PM.<\/strong><\/p>\n

Cancer Res. 2025 Feb 1;85(3):407-409. doi: 10.1158\/0008-5472.CAN-24-3879.<\/p>\n

PMID:\u00a039891927<\/p>\n

 <\/p>\n

Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants.\u00a0<\/a><\/p>\n

Iyer KR, Clarke SL, Guarischi-Sousa R, Gjoni K, Heath AS, Young EP, Stitziel NO, Laurie C, Broome JG, Khan AT, Lewis JP, Xu H, Montasser ME, Ashley KE, Hasbani NR, Boerwinkle E, Morrison AC, Chami N, Do R, Rocheleau G, Lloyd-Jones DM, Lemaitre RN, Bis JC, Floyd JS, Kinney GL, Bowden DW, Palmer ND, Benjamin EJ, Nayor M, Yanek LR, Kral BG, Becker LC, Kardia SLR, Smith JA, Bielak LF, Norwood AF, Min YI, Carson AP, Post WS, Rich SS, Herrington D, Guo X, Taylor KD, Manson JE, Franceschini N<\/strong>, Pollard KS, Mitchell BD, Loos RJF, Fornage M, Hou L, Psaty BM, Young KA, Regan EA, Freedman BI, Vasan RS, Levy D, Mathias RA, Peyser PA, Raffield LM<\/strong>, Kooperberg C, Reiner AP, Rotter JI, Jun G, de Vries PS, Assimes TL.<\/p>\n

J Am Heart Assoc. 2025 Feb 14:e036499. doi: 10.1161\/JAHA.124.036499. Online ahead of print.<\/p>\n

PMID:\u00a039950338<\/p>\n

 <\/p>\n

A Bioconductor\/R Workflow for the Detection and Visualization of Differential Chromatin Loops.\u00a0<\/a><\/p>\n

Flores JP, Davis E, Kramer N, Love MI<\/strong>, Phanstiel DH.<\/p>\n

F1000Res. 2024 Nov 11;13:1346. doi: 10.12688\/f1000research.153949.1. eCollection 2024.<\/p>\n

PMID:\u00a039931328\u00a0Free PMC article.<\/strong><\/p>\n

 <\/p>\n

Defining the regulatory logic of breast cancer using single-cell epigenetic and transcriptome profiling.\u00a0<\/a><\/p>\n

Regner MJ, Garcia-Recio S<\/strong>, Thennavan A, Wisniewska K, Mendez-Giraldez R, Felsheim B, Spanheimer PM, Parker JS, Perou CM, Franco HL.<\/strong><\/p>\n

Cell Genom. 2025 Feb 12;5(2):100765. doi: 10.1016\/j.xgen.2025.100765. Epub 2025 Feb 5.<\/p>\n

PMID:\u00a039914387<\/p>\n

 <\/p>\n

The cell biology and genome of\u00a0Stentor pyriformis<\/em>, a giant cell that embeds symbiotic algae in a microtubule meshwork.\u00a0<\/a><\/p>\n

Boudreau V, Larson BT, Gerbich TM, Fadero T, Yan V, Lucas-DeMott A, Yung J, Moulin SLY, Descovich CP, Slabodnick MM, Burlacot A, Wang JR<\/strong>, Niyogi KK, Marshall WF.<\/p>\n

Mol Biol Cell. 2025 Feb 12:mbcE24120571. doi: 10.1091\/mbc.E24-12-0571. Online ahead of print.<\/p>\n

PMID:\u00a039937680<\/p>\n

 <\/p>\n

Genomic Characteristics Related to Histology-based Immune Features in Breast Cancer.\u00a0<\/a><\/p>\n

Cha YJ, O’Connell CE, Calhoun BC, Felsheim BM, Fernandez-Martinez A, Fan C, Brueffer C, Larsson C, Borg \u00c5, Saal LH, Perou CM.<\/strong><\/p>\n

Mod Pathol. 2025 Feb 14:100736. doi: 10.1016\/j.modpat.2025.100736. Online ahead of print.<\/p>\n

PMID:\u00a039956271<\/p>\n

 <\/p>\n

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.\u00a0<\/a><\/p>\n

Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Genevi\u00e8ve D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K<\/strong>, Dobyns W, White SM, Pais L, O’Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V.<\/p>\n

Am J Hum Genet. 2025 Feb 14:S0002-9297(25)00021-7. doi: 10.1016\/j.ajhg.2025.01.021. Online ahead of print.<\/p>\n

PMID:\u00a039978342<\/p>\n

 <\/p>\n

Genes Associated With Hypertrophic\u00a0Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.\u00a0<\/a><\/p>\n

Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C<\/strong>, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Mui\u00f1o-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J.<\/p>\n

J Am Coll Cardiol. 2025 Feb 25;85(7):727-740. doi: 10.1016\/j.jacc.2024.12.010.<\/p>\n

PMID:\u00a039971408<\/p>\n

 <\/p>\n

RNA methyltransferase SPOUT1\/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.\u00a0<\/a><\/p>\n

Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Shen Y, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Abou Jamra R, Gabriel H, Rentas S, Rippert AL, Gray C, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Eker HK, Pehlivan D, Posey JE, Lippa NC, Vena N, Heinzen EL<\/strong>, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid MS, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Perez-Duenas B, Cazurro-Gutierrez A, Verdura E, Cantarin-Extremera V, Marques ADV, Helwak A, Tollervey D, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J.<\/p>\n

Nat Commun. 2025 Feb 17;16(1):1703. doi: 10.1038\/s41467-025-56876-w.<\/p>\n

PMID:\u00a039962046\u00a0Free PMC article.<\/strong><\/p>\n

 <\/p>\n

Editorial overview: Peering into our history through a genetic lens: How advances in genetics are changing our understanding of human evolution.\u00a0<\/a><\/p>\n

Stein JL,<\/strong> Pollen AA.<\/p>\n

Curr Opin Genet Dev. 2025 Feb 24;92:102326. doi: 10.1016\/j.gde.2025.102326. Online ahead of print.<\/p>\n

PMID:\u00a039999542\u00a0No abstract available.<\/p>\n

 <\/p>\n

Analysis of Hepatic Lentiviral Vector Transduction: Implications for Preclinical Studies and Clinical Gene Therapy Protocols.\u00a0<\/a><\/p>\n

Hu P, Hao Y, Tang W, Diering GH, Zou F<\/strong>, Kafri T.<\/p>\n

Viruses. 2025 Feb 17;17(2):276. doi: 10.3390\/v17020276.<\/p>\n

PMID:\u00a040007031\u00a0Free PMC article.<\/strong><\/p>\n

 <\/p>\n

O-GalNAc glycans are enriched in neuronal tracts and regulate nodes of Ranvier.\u00a0<\/a><\/p>\n

Noel M, Suttapitugsakul S, Cummings RD, Mealer RG.<\/strong><\/p>\n

Proc Natl Acad Sci U S A. 2025 Mar 4;122(9):e2418949122. doi: 10.1073\/pnas.2418949122. Epub 2025 Feb 25.<\/p>\n

PMID:\u00a039999163<\/p>\n

 <\/p>\n

Suppression of meiotic crossovers in pericentromeric heterochromatin requires synaptonemal complex and meiotic recombination factors in Drosophila melanogaster.\u00a0<\/a><\/p>\n

Pazhayam NM, Sagar S, Sekelsky J.<\/strong><\/p>\n

Genetics. 2025 Feb 25:iyaf029. doi: 10.1093\/genetics\/iyaf029. Online ahead of print.<\/p>\n

PMID:\u00a039996709<\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

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