Department of Genetics Publications for November 20th – December 3rd, 2022

Department of Genetics faculty, postdocs, students and collaborators published 12 papers during November 20^th – December 3^rd, 2022.

 

Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex. 

Liu S, Won H, Clarke D, Matoba N, Khullar S, Mu Y, Wang D, Gerstein M.

Genome Med. 2022 Nov 24;14(1):133. doi: 10.1186/s13073-022-01133-8.

PMID: 36424644

 

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. 

Bowling KM, Thompson ML, Kelly MA, Scollon S, Slavotinek AM, Powell BC, Kirmse BM, Hendon LG, Brothers KB, Korf BR, Cooper GM, Greally JM, Hurst ACE.

Genome Med. 2022 Nov 21;14(1):131. doi: 10.1186/s13073-022-01139-2.

PMID: 36414972 Free PMC article.

 

Single-center serological surveillance of SARS-CoV-2 in pregnant patients presenting to labor and delivery. 

Boggess KA, Stringer EM, Robinson WR, Munoz MC, Goodnight WH, Rahangdale L, Vora NL, Rosenbaum AJ, Bala V, Ivins A, Narowski TM, Jadi R, Lakshmanane P.

Int J Gynaecol Obstet. 2022 Nov 23. doi: 10.1002/ijgo.14587. Online ahead of print.

PMID: 36416412

 

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. 

Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller Mgc KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC.

Prenat Diagn. 2022 Nov 19. doi: 10.1002/pd.6269. Online ahead of print.

PMID: 36403095

 

Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis. 

Farrell M, Dietterich TE, Harner MK, Bruno LM, Filmyer DM, Shaughnessy RA, Lichtenstein ML, Britt AM, Biondi TF, Crowley JJ, Lázaro-Muñoz G, Forsingdal AE, Nielsen J, Didriksen M, Berg JS, Wen J, Szatkiewicz J, Mary Xavier R, Sullivan PF, Josiassen RC.

Schizophr Bull. 2022 Dec 1:sbac175. doi: 10.1093/schbul/sbac175. Online ahead of print.

PMID: 36454006

 

Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease. 

Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, Köttgen A, Francis M; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Kidney Function Working Group, Brody JA, Kestenbaum B, Sitlani CM, Mychaleckyj JC, Kramer H, Lange LA, Guo X, Hwang SJ, Irvin MR, Smith JA, Yanek LR, Vaidya D, Chen YI, Fornage M, Lloyd-Jones DM, Hou L, Mathias RA, Mitchell BD, Peyser PA, Kardia SLR, Arnett DK, Correa A, Raffield LM, Vasan RS, Cupple LA, Levy D, Kaplan RC, North KE, Rotter JI, Kooperberg C, Reiner AP, Psaty BM, Tracy RP, Gibbs RA, Morrison AC, Feldman H, Boerwinkle E, He J, Kelly TN; CRIC Study Investigators.

Hum Mol Genet. 2022 Nov 29:ddac290. doi: 10.1093/hmg/ddac290. Online ahead of print.

PMID: 36444934

 

STING Suppresses Mitochondrial VDAC2 to Govern RCC Growth Independent of Innate Immunity. 

Zhu Z, Zhou X, Du H, Cloer EW, Zhang J, Mei L, Wang Y, Tan X, Hepperla AJ, Simon JM, Cook JG, Major MB, Dotti G, Liu P.

Adv Sci (Weinh). 2022 Nov 29:e2203718. doi: 10.1002/advs.202203718. Online ahead of print.

PMID: 36445063

 

Drosophila SUMM4 complex couples insulator function and DNA replication control. 

Andreyeva EN, Emelyanov AV, Nevil M, Sun L, Vershilova E, Hill CA, Keogh MC, Duronio RJ, Skoultchi AI, Fyodorov DV.

Elife. 2022 Dec 2;11:e81828. doi: 10.7554/eLife.81828. Online ahead of print.

PMID: 36458689

 

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions. 

Hoskovec J, Hardisty EE, Talati AN, Carozza JA, Wynn J, Riku S, Ten Bosch JR, Vora NL.

Genet Med. 2022 Dec 1:S1098-3600(22)01002-4. doi: 10.1016/j.gim.2022.10.014. Online ahead of print.

PMID: 36454238

 

Aging-related multisystem dysregulation over the adult lifespan and physical function in later life: the Atherosclerosis Risk in Communities (ARIC) Study. 

Lu Y, Pike JR, Kucharska-Newton A, Palta P, Whitsel EA, Bey G, Zannas AS, Windham BG, Walker KA, Griswold M, Heiss G.

J Gerontol A Biol Sci Med Sci. 2022 Dec 1:glac236. doi: 10.1093/gerona/glac236. Online ahead of print.

PMID: 36453688

 

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States. 

Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rosé AM, Comeau AM, Tanksley S, Powell CM, Kemper AR.

Genet Med. 2022 Nov 29:S1098-3600(22)00998-4. doi: 10.1016/j.gim.2022.10.012. Online ahead of print.

PMID: 36445366 Review.

 

Most Frequently Cited Accreditation Inspection Deficiencies for Clinical Molecular Oncology Testing Laboratories and Opportunities for Improvement. 

Sidiropoulos N, Daley SK, Briggs M, Fernandes H, Lockwood CM, Mahmoud AZ, Merker JD, Vasalos P, Wielgos LM, Moncur JT, Farkas DH.

Arch Pathol Lab Med. 2022 Dec 1;146(12):1441-1449. doi: 10.5858/arpa.2021-0448-CP.

PMID: 35438717 Review.