Department of Genetics faculty, postdocs, students and collaborators published eleven documents during Dec. 15-28, 2019.

 

Parents’ perceptions of personal utility of exome sequencing results.
Mollison L, O’Daniel JM, Henderson GE, Berg JS, Skinner D.
Genet Med. 2019 Dec 20. doi: 10.1038/s41436-019-0730-8. [Epub ahead of print]
PMID: 31857707

 

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology & Hemostasis Working Group, Raffield LM, Reiner AP, Li Y.
PLoS Genet. 2019 Dec 23;15(12):e1008500. doi: 10.1371/journal.pgen.1008500. [Epub ahead of print]
PMID: 31869403

 

A new liver eQTL map from 1,183 individuals provides evidence for novel eQTLs of drug response, metabolic and sex-biased phenotypes.
Etheridge AS, Gallins PJ, Jima D, Broadaway KA, Ratain MJ, Schuetz E, Schadt E, Schroder A, Molony C, Zhou Y, Mohlke KL, Wright FA, Innocenti F.
Clin Pharmacol Ther. 2019 Dec 23. doi: 10.1002/cpt.1751. [Epub ahead of print]
PMID: 31868224

 

scRNA-seq in medulloblastoma shows cellular heterogeneity and lineage expansion support resistance to SHH inhibitor therapy.
Ocasio J, Babcock B, Malawsky D, Weir SJ, Loo L, Simon JM, Zylka MJ, Hwang D, Dismuke T, Sokolsky M, Rosen EP, Vibhakar R, Zhang J, Saulnier O, Vladoiu M, El-Hamamy I, Stein LD, Taylor MD, Smith KS, Northcott PA, Colaneri A, Wilhelmsen K, Gershon TR.
Nat Commun. 2019 Dec 20;10(1):5829. doi: 10.1038/s41467-019-13657-6.
PMID: 31863004

 

Life-threatening presentations of propionic acidemia due to the Amish <i>PCCB</i> founder variant.
Hannah WB, Dempsey KJ, Schillaci LP, Zacharias M, McCandless SE, Wynshaw-Boris A, Konczal LL, Bedoyan JK.
Mol Genet Metab Rep. 2019 Nov 6;21:100537. doi: 10.1016/j.ymgmr.2019.100537. eCollection 2019 Dec.
PMID: 31844627

 

Tight junction protein claudin-7 is essential for intestinal epithelial stem cell self-renewal and differentiation.
Xing T, Benderman LJ, Sabu S, Parker J, Yang J, Lu Q, Ding L, Chen YH.
Cell Mol Gastroenterol Hepatol. 2019 Dec 21. pii: S2352-345X(19)30181-X. doi: 10.1016/j.jcmgh.2019.12.005. [Epub ahead of print]
PMID: 31874254

 

LEGAL AND ETHICAL IMPLICATIONS OF CRISPR APPLICATIONS IN PSYCHIATRY.
Foulkes AL, Soda T, Farrell M, Giusti-Rodríguez P, Lázaro-Muñoz G.
North Carol Law Rev. 2019;97(5):1359-1398.
PMID: 31871365

 

Quantitative classification of chromatin dynamics reveals regulators of intestinal stem cell differentiation.
Raab JR, Tulasi DY, Wager KE, Morowitz JM, Magness ST, Gracz AD.
Development. 2019 Dec 20. pii: dev.181966. doi: 10.1242/dev.181966. [Epub ahead of print]
PMID: 31862843

 

SKP2 attenuates autophagy through Beclin1-ubiquitination and its inhibition reduces MERS-Coronavirus infection.
Gassen NC, Niemeyer D, Muth D, Corman VM, Martinelli S, Gassen A, Hafner K, Papies J, Mösbauer K, Zellner A, Zannas AS, Herrmann A, Holsboer F, Brack-Werner R, Boshart M, Müller-Myhsok B, Drosten C, Müller MA, Rein T.
Nat Commun. 2019 Dec 18;10(1):5770. doi: 10.1038/s41467-019-13659-4.
PMID: 31852899

 

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.
Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF.
NPJ Genom Med. 2019 Dec 10;4:32. doi: 10.1038/s41525-019-0105-8. eCollection 2019. Review.
PMID: 31839987

 

Literature review and methodological considerations for understanding circulating risk biomarkers following trauma exposure.
Linnstaedt SD, Zannas AS, McLean SA, Koenen KC, Ressler KJ.
Mol Psychiatry. 2019 Dec 20. doi: 10.1038/s41380-019-0636-5. [Epub ahead of print] Review.
PMID: 31863020