Department of Genetics faculty, postdocs, students and collaborators published 13 papers during October 13th – 26th, 2024.
DAB2IP Loss in Luminal A Breast Cancer Leads to NF-kB Associated Aggressive Oncogenic Phenotypes.
Mukherjee A, Kakati RT, Van Alsten SC, Laws T, Ebbs AL, Hollern DP, Spanheimer PM, Hoadley KA, Troester MA, Simon JM, Baldwin AS.
JCI Insight. 2024 Oct 17:e171705. doi: 10.1172/jci.insight.171705. Online ahead of print.
PMID: 39418101
B cell heterogeneity in cancer comes of age.
Sturdevant C, Pylayeva-Gupta Y.
Cancer Cell. 2024 Oct 14;42(10):1650-1652. doi: 10.1016/j.ccell.2024.09.013.
PMID: 39406185
A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Chandrabose Sundaramurthi J, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN.
HGG Adv. 2024 Oct 10:100371. doi: 10.1016/j.xhgg.2024.100371. Online ahead of print.
PMID: 39394689
Deng Y, Hahn Q, Yu L, Zhu Z, Boyer JA, Wang J, Kong D, Carey LM, Hepperla AJ, Simon JM, Temple B, Zhang Z, Zhang Y, Santos C, Frank JE, Herring LE, Wang X, Dokholyan NV, Campbell SL, Baldwin AS, Damania B, Zhang Q, Liu P.
Sci Adv. 2024 Oct 18;10(42):eado7024. doi: 10.1126/sciadv.ado7024. Epub 2024 Oct 16.
PMID: 39413198 Free PMC article.
Salzler HR, Vandadi V, Sallean JR, Matera AG.
Genetics. 2024 Oct 17:iyae168. doi: 10.1093/genetics/iyae168. Online ahead of print.
PMID: 39417694
Trends in management and related outcomes for occult primary breast cancer.
LaBella M, Lile-King RE, Agala CB, Spanheimer PM, Ollila DW, Gallagher KK, Selfridge JM.
Breast Cancer Res Treat. 2024 Oct 13. doi: 10.1007/s10549-024-07500-w. Online ahead of print.
PMID: 39397208
The Path to Genomic Screening-Far From Simple, but the Journey Has Begun.
Berg JS.
JAMA. 2024 Oct 24. doi: 10.1001/jama.2024.21926. Online ahead of print.
PMID: 39446569 No abstract available.
García-Marín LM, Campos AI, Diaz-Torres S, Rabinowitz JA, Ceja Z, Mitchell BL, Grasby KL, Thorp JG, Agartz I, Alhusaini S, Ames D, Amouyel P, Andreassen OA, Arfanakis K, Arias-Vasquez A, Armstrong NJ, Athanasiu L, Bastin ME, Beiser AS, Bennett DA, Bis JC, Boks MPM, Boomsma DI, Brodaty H, Brouwer RM, Buitelaar JK, Burkhardt R, Cahn W, Calhoun VD, Carmichael OT, Chakravarty M, Chen Q, Ching CRK, Cichon S, Crespo-Facorro B, Crivello F, Dale AM, Smith GD, de Geus EJC, De Jager PL, de Zubicaray GI, Debette S, DeCarli C, Depondt C, Desrivières S, Djurovic S, Ehrlich S, Erk S, Espeseth T, Fernández G, Filippi I, Fisher SE, Fleischman DA, Fletcher E, Fornage M, Forstner AJ, Francks C, Franke B, Ge T, Goldman AL, Grabe HJ, Green RC, Grimm O, Groenewold NA, Gruber O, Gudnason V, Håberg AK, Haukvik UK, Heinz A, Hibar DP, Hilal S, Himali JJ, Ho BC, Hoehn DF, Hoekstra PJ, Hofer E, Hoffmann W, Holmes AJ, Homuth G, Hosten N, Ikram MK, Ipser JC, Jack CR Jr, Jahanshad N, Jönsson EG, Kahn RS, Kanai R, Klein M, Knol MJ, Launer LJ, Lawrie SM, Hellard SL, Lee PH, Lemaître H, Li S, Liewald DCM, Lin H, Longstreth WT Jr, Lopez OL, Luciano M, Maillard P, Marquand AF, Martin NG, Martinot JL, Mather KA, Mattay VS, McMahon KL, Mecocci P, Melle I, Meyer-Lindenberg A, Mirza-Schreiber N, Milaneschi Y, Mosley TH, Mühleisen TW, Müller-Myhsok B, Maniega SM, Nauck M, Nho K, Niessen WJ, Nöthen MM, Nyquist PA, Oosterlaan J, Pandolfo M, Paus T, Pausova Z, Penninx BWJH, Pike GB, Psaty BM, Pütz B, Reppermund S, Rietschel MD, Risacher SL, Romanczuk-Seiferth N, Romero-Garcia R, Roshchupkin GV, Rotter JI, Sachdev PS, Sämann PG, Saremi A, Sargurupremraj M, Saykin AJ, Schmaal L, Schmidt H, Schmidt R, Schofield PR, Scholz M, Schumann G, Schwarz E, Shen L, Shin J, Sisodiya SM, Smith AV, Smoller JW, Soininen HS, Steen VM, Stein DJ, Stein JL, Thomopoulos SI, Toga AW, Tordesillas-Gutiérrez D, Trollor JN, Valdes-Hernandez MC, van T Ent D, van Bokhoven H, van der Meer D, van der Wee NJA, Vázquez-Bourgon J, Veltman DJ, Vernooij MW, Villringer A, Vinke LN, Völzke H, Walter H, Wardlaw JM, Weinberger DR, Weiner MW, Wen W, Westlye LT, Westman E, White T, Witte AV, Wolf C, Yang J, Zwiers MP, Ikram MA, Seshadri S, Thompson PM, Satizabal CL, Medland SE, Rentería ME.
Nat Genet. 2024 Oct 21. doi: 10.1038/s41588-024-01951-z. Online ahead of print.
PMID: 39433889
Chakraborty P, Magnuson T.
PLoS Genet. 2024 Oct 15;20(10):e1011431. doi: 10.1371/journal.pgen.1011431. eCollection 2024 Oct.
PMID: 39405305
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, Chen H, Liu H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Pinto E Vairo F, Racacho L, Yuzyuk T, Craigen WJ, Goldstein J.
Mol Genet Metab. 2024 Oct 12;143(3):108593. doi: 10.1016/j.ymgme.2024.108593. Online ahead of print.
PMID: 39426251
Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C.
Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print.
PMID: 39448799
Serum Immunoglobulin G Levels Are Associated with Risk for Exacerbations: An Analysis of SPIROMICS.
Burnim M, Putcha N, LaFon D, Woo H, Azar A, Groenke L, Stampfli M, Schaub A, Fawzy A, Balasubramanian A, Fedarko N, Cooper CB, Bowler RP, Comellas A, Krishnan JA, Han MK, Couper D, Peters SP, Drummond MB, O’Neal W, Paine R, Criner G, Martinez FJ, Curtis JL, Barr G, Huang YJ, Woodruff P, Dransfield M, Hansel NN.
Am J Respir Crit Care Med. 2024 Oct 23. doi: 10.1164/rccm.202311-2184OC. Online ahead of print.
PMID: 39441116
Jose S, Bollinger J, Geller G, Greene J, Henry LM, Hutler B, Juengst ET, Kahn J, Mastroianni AC, Mooney G, White A, Wilbanks R, Mathews DJH; BRIDGES Collaboratory Participants.
J Law Med Ethics. 2024;52(2):443-455. doi: 10.1017/jme.2024.116. Epub 2024 Oct 22.
PMID: 39435916