Research

Parker Lab Researchers
 Parker Lab Researchers

Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics. Please select an area of interest from the list below to explore the research of individual laboratories.

You may also explore The Department of Human Genetics' research profile and collaboration network on the Michigan Experts website (Michigan Experts is a searchable database of research expertise across disciplines from several schools/colleges or institutes at the University of Michigan.)

 

Recent Publications  

Chen L, Zhao Z, Wang Z, Zhou Y, Zhou X, Pan H, Shen F, Zeng S, Shao X, Frank E, Sen S, Li W, Burmeister M. Prevalence and risk factors for depression among training physicians in China and the United States. Sci Rep. 2022 May 17;12(1):8170. doi: 10.1038/s41598-022-12066-y. PMID: 35581251; PMCID: PMC9112267.

Samanta MK, Gayen S, Harris C, Maclary E, Murata-Nakamura Y, Malcore RM,Porter RS, Garay PM, Vallianatos CN, Samollow PB, Iwase S, Kalantry S.Activation of Xist by an evolutionarily conserved function of KDM5C demethylase.Nat Commun. 2022 May 11;13(1):2602. doi: 10.1038/s41467-022-30352-1. PMID:35545632; PMCID: PMC9095838.

Cloutier M, Kumar S, Buttigieg E, Keller L, Lee B, Williams A, Mojica-Perez S, Erliandri I, Rocha AMD, Cadigan K, Smith GD, Kalantry S. Preventing erosion of X-chromosome inactivation in human embryonic stem cells. Nat Commun. 2022 May 6;13(1):2516. doi: 10.1038/s41467-022-30259-x. PMID: 35523820; PMCID:PMC9076865.

Halo JV, Kidd JM. Canis familiaris (Great Dane domestic dog). Trends Genet.2022 May;38(5):514-515. doi: 10.1016/j.tig.2022.01.009. Epub 2022 Feb 26. PMID:35232612.

Uddin MM, Zhou Y, Bick AG, Burugula BB, Jaiswal S, Desai P, Honigberg MC,Love SA, Barac A, Hayden KM, Manson JE, Whitsel EA, Kooperberg C, Natarajan P,Reiner AP, Kitzman JO. Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics. Immun Ageing. 2022 May 24;19(1):23. doi:10.1186/s12979-022-00278-9. PMID: 35610705; PMCID: PMC9128083.

English AM, Green KM, Moon SL. A (dis)integrated stress response: Genetic diseases of eIF2α regulators. Wiley Interdiscip Rev RNA. 2022 May;13(3):e1689.doi: 10.1002/wrna.1689. Epub 2021 Aug 31. PMID: 34463036.

Stark-Dykema ER, Dulka EA, Gerlinger ER, Mueller JL. X-linked palindromic gene families 4930567H17Rik and Mageb5 are dispensable for male mouse fertility.Sci Rep. 2022 May 20;12(1):8554. doi: 10.1038/s41598-022-12433-9. PMID: 35595785; PMCID: PMC9122934.

Chase CL, Yashar BM, Swope C, Albin RL, Uhlmann WR. Searching for Answers:Information-Seeking by Young People At-Risk for Huntington's Disease. J Huntingtons Dis. 2022 May 7. doi: 10.3233/JHD-210523. Epub ahead of print. PMID:35570496.

Huser N, Hulswit BB, Koeller DR, Yashar BM. Improving gender-affirming care in genetic counseling: Using educational tools that amplify transgender and/or gender non-binary community voices. J Genet Couns. 2022 Apr 23. doi:10.1002/jgc4.1581. Epub ahead of print. PMID: 35460542

Ulrich ND, Shen YC, Ma Q, Yang K, Hannum DF, Jones A, Machlin J, Randolph JF Jr, Smith YR, Schon SB, Shikanov A, Marsh EE, Lieberman R, Gurczynski SJ, Moore BB, Li JZ, Hammoud S. Cellular heterogeneity of human fallopian tubes in normal and hydrosalpinx disease states identified using scRNA-seq. Dev Cell. 2022 Apr 11;57(7):914-929.e7. doi: 10.1016/j.devcel.2022.02.017. Epub 2022 Mar 22. PMID:35320732; PMCID: PMC9007916.

Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R,Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE. <i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. J Med Genet. 2022 Mar;59(3):294-304. doi:10.1136/jmedgenet-2020-107447. Epub 2021 Jan 25. PMID: 33495304; PMCID:PMC8310534.

O'Connor CM, Taylor SE, Miller KM, Hurst L, Haanen TJ, Suhan TK, Zawacki KP,Noto FK, Trako J, Mohan A, Sangodkar J, Zamarin D, DiFeo A, Narla G. Targeting ribonucleotide reductase induces synthetic lethality in PP2A-deficient uterine serous carcinoma. Cancer Res. 2021 Dec 17:canres.1987.2021. doi:10.1158/0008-5472.CAN-21-1987. Epub ahead of print. PMID: 34921012.

Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, akeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, Böger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Koistinen HA, Chandak GR, Yajnik CS, Mercader JM, Tusié-Luna T, Aguilar-Salinas CA, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Lu F, Qu J, Hishigaki H, Lin X, März W, Parra EJ, Cruz M, Gudnason V, Tardif JC, Lettre G, 't Hart LM, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Psaty BM, Brandslund I, Pramstaller PP, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Cucca F, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Justice AE, Baras A, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Thorsteinsdottir U, Stefansson K, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Rotimi CN, Hazelhurst S, Ramsay M, Trembath RC, van Heel DA, Tamiya G, Yamamoto M, Kim BJ, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S; VA Million Veteran Program; Global Lipids Genetics Consortium*, Boehnke M, Natarajan P, Peloso GM, Brown CD, Morris AP, Assimes TL, Deloukas P, Sun YV, Willer CJ. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021 Dec;600(7890):675-679. doi: 10.1038/s41586-021-04064-3. Epub 2021 Dec 9. PMID: 34887591.

Bazzano D, Lomonaco S, Wilson TE. Mapping yeast mitotic 5' resection at base resolution reveals the sequence and positional dependence of nucleases in vivo. Nucleic Acids Res. 2021 Dec 16;49(22):12607-12621. doi: 10.1093/nar/gkab597.PMID: 34263309; PMCID: PMC8682756.

Sheldon JP, Oliver M, Yashar BM. Rewards and challenges of parenting a child with Down syndrome: a qualitative study of fathers' perceptions. Disabil Rehabil. 2021 Dec;43(24):3562-3573. doi: 10.1080/09638288.2020.1745907. Epub 2020 Apr 7. PMID: 32255374

Kumar N, Zuo Y, Yalavarthi S, Hunker KL, Knight JS, Kanthi Y, Obi AT, Ganesh SK. SARS-CoV-2 Spike Protein S1-Mediated Endothelial Injury and Pro-Inflammatory State Is Amplified by Dihydrotestosterone and Prevented by Mineralocorticoid Antagonism. Viruses. 2021 Nov 3;13(11):2209. doi: 10.3390/v13112209. PMID:34835015; PMCID: PMC8617813.

Orchard P, Manickam N, Ventresca C, Vadlamudi S, Varshney A, Rai V, Kaplan J, Lalancette C, Mohlke KL, Gallagher K, Burant CF, Parker SCJ. Human and rat skeletal muscle single-nuclei multi-omic integrative analyses nominate causal cell types, regulatory elements, and SNPs for complex traits. Genome Res. 2021 Nov 23. doi: 10.1101/gr.268482.120. Epub ahead of print. PMID: 34815310

Brue T, Camper S. Commentary: Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform. Eur J Endocrinol. 2021 Oct 1:EJE-21-0949. doi:10.1530/EJE-21-0949. Epub ahead of print. PMID: 34597272.

Adams EJ, Khoriaty R, Kiseleva A, Cleuren ACA, Tomberg K, van der Ent MA,Gergics P, Tang VT, Zhu G, Hoenerhoff MJ, O'Shea KS, Saunders TL, Ginsburg D. Murine SEC24D can substitute functionally for SEC24C during embryonic development. Sci Rep. 2021 Oct 26;11(1):21100. doi: 10.1038/s41598-021-00579-x.PMID: 34702932; PMCID: PMC8548507.

Omenn GS, Lane L, Overall CM, Paik YK, Cristea IM, Corrales FJ, Lindskog C,Weintraub S, Roehrl MHA, Liu S, Bandeira N, Srivastava S, Chen YJ, Aebersold R,Moritz RL, Deutsch EW. Progress Identifying and Analyzing the Human Proteome:2021 Metrics from the HUPO Human Proteome Project. J Proteome Res. 2021 Oct 20.doi: 10.1021/acs.jproteome.1c00590. Epub ahead of print. PMID: 34670092.

Kahn E, Sheldon JP, Carmichael A, Yashar BM. Graduate training during the COVID-19 pandemic: North American genetic counseling students' challenges,intolerance of uncertainty, and psychological well-being. J Genet Couns. 2021 Oct 19. doi: 10.1002/jgc4.1501. Epub ahead of print. PMID: 34665887

Sun P, Kumar N, Tin A, Zhao J, Brown MR, Lin Z, Yang ML, Zheng Q, Jia J, Bielak LF, Yu B, Boerwinkle E, Hunker KL, Coresh J, Chen YE, Huo Y, Kardia SLR, Khoriaty R, Zhou X, Morrison AC, Zhang Y, Ganesh SK. Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease. Hypertension. 2021 Sep 7:HYPERTENSIONAHA12117597. doi:10.1161/HYPERTENSIONAHA.121.17597. Epub ahead of print. PMID: 34488438

Coleman DM, Wang Y, Yang ML, Hunker KL, Birt I, Bergin IL, Li JZ, Stanley JC, Ganesh SK. Molecular genetic evaluation of Pediatric Renovascular hypertension due to renal artery stenosis and abdominal aortic Coarctation in Neurofibromatosis type 1. Hum Mol Genet. 2021 Sep 2:ddab241. doi:10.1093/hmg/ddab241. Epub ahead of print. PMID: 34476477

Huttinger ZM, Haynes LM, Yee A, Kretz CA, Holding ML, Siemieniak DR, Lawrence DA, Ginsburg D. Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape. Sci Rep. 2021 Sep 22;11(1):18827. doi:10.1038/s41598-021-97871-7. PMID: 34552126; PMCID: PMC8458277. 

Bonefas KM, Iwase S. Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders? FEBS J. 2022 Apr;289(8):2301-2317. doi:10.1111/febs.16196. Epub 2021 Oct 8. PMID: 34514717; PMCID: PMC8918023. 

Balendran V, Skidmore JM, Ritter KE, Gao J, Cimerman J, Beyer LA, Hurd EA, Raphael Y, Martin DM. Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning. Dev Biol. 2021 Sep;477:11-21. doi:10.1016/j.ydbio.2021.05.009. Epub 2021 May 15. PMID: 34004180; PMCID: PMC8277762. 

Balikov DA, Jacobson A, Prasov L. Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders. Genes (Basel).2021 Sep 11;12(9):1403. doi: 10.3390/genes12091403. PMID: 34573386.

Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA,Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO,Camper SA. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. PMID: 34270938; PMCID: PMC8387473. https://pubmed.ncbi.nlm.nih.gov/34270938/

Hill SF, Meisler MH. Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders. Dev Neurosci. 2021 Aug 5;43(3-4):247-252. doi: 10.1159/000517686.Epub ahead of print. PMID: 34412058.

English AM, Green KM, Moon SL. A (dis)integrated stress response: Genetic diseases of eIF2α regulators. Wiley Interdiscip Rev RNA. 2021 Aug 31:e1689. doi:10.1002/wrna.1689. Epub ahead of print. PMID: 34463036.

Uhlmann WR, McKeon AJ, Wang C. Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond. J Genet Couns. 2021 Aug;30(4):1038-1045. doi: 10.1002/jgc4.1469. Epub 2021 Jul 21. PMID: 34291525.

Park SH, Bennett-Baker P, Ahmed S, Arlt MF, Ljungman M, Glover TW, Wilson TE. Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay. Nucleic Acids Res. 2021 Jun 28:gkab559. doi: 10.1093/nar/gkab559. Epub ahead of print. PMID: 34181717.

Tyler J, Fang Y, Goldstein C, Forger D, Sen S, Burmeister M. Genomic heterogeneity affects the response to Daylight Saving Time. Sci Rep. 2021 Jul 20;11(1):14792. doi: 10.1038/s41598-021-94459-z. PMID: 34285349; PMCID:PMC8292316.

Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA,Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO,Camper SA. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. Am J Hum Genet. 2021 Jul 12:S0002-9297(21)00237-8. doi: 10.1016/j.ajhg.2021.06.013. Epub ahead of print. PMID: 34270938.

Daly AZ, Mortensen AH, Bando H, Camper SA. Pituitary Tumors and Immortalized Cell Lines Generated by Cre-Inducible Expression of SV40 T Antigen.Endocrinology. 2021 Jul 1;162(7):bqab073. doi: 10.1210/endocr/bqab073. PMID:33837405; PMCID: PMC8183496.

Roychowdhury T, Lu H, Hornsby WE, Crone B, Wang GT, Guo DC, Sendamarai AK,Devineni P, Lin M, Zhou W, Graham SE, Wolford BN, Surakka I, Wang Z, Chang L,Zhang J, Mathis M, Brummett CM, Melendez TL, Shea MJ, Kim KM, Deeb GM, Patel HJ,Eliason J, Eagle KA, Yang B, Ganesh SK, Brumpton B, Åsvold BO, Skogholt AH,Hveem K; VA Million Veteran Program, Pyarajan S, Klarin D, Tsao PS, Damrauer SM, Leal SM, Milewicz DM, Chen YE, Garcia-Barrio MT, Willer CJ. Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. Am J Hum Genet. 2021 Jul 10:S0002-9297(21)00240-8. doi: 10.1016/j.ajhg.2021.06.016. Epub ahead of print PMID: 34265237.

Yee A, Dai M, Croteau SE, Shavit JA, Pipe SW, Siemieniak D, Meng F, Ginsburg D. Phage display broadly identifies inhibitor-reactive regions in von Willebrand factor. J Thromb Haemost. 2021 Jul 13. doi: 10.1111/jth.15460. Epub ahead of print. PMID: 34255925.

Brautigan DL, Farrington C, Narla G. Targeting protein phosphatase PP2A for cancer therapy: development of allosteric pharmaceutical agents. Clin Sci (Lond). 2021 Jul 16;135(13):1545-1556. doi: 10.1042/CS20201367. PMID: 34192314.

Uhlmann WR, McKeon AJ, Wang C. Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond. J Genet Couns. 2021 Jul 21. doi:10.1002/jgc4.1469. Epub ahead of print. PMID: 34291525.

Bazzano D, Lomonaco S, Wilson TE. Mapping yeast mitotic 5' resection at base resolution reveals the sequence and positional dependence of nucleases in vivo.Nucleic Acids Res. 2021 Jul 15:gkab597. doi: 10.1093/nar/gkab597. Epub ahead of print. PMID: 34263309.

Sun P, Zhou W, Fu Y, Cheung CYY, Dong Y, Yang ML, Zhang H, Jia J, Huo Y, Willer CJ, Chen YE, Tang CS, Tse HF, Lam KSL, Gao W, Xu M, Yu H, Sham PC, Zhang Y, Ganesh SK. An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population. Hum Mol Genet. 2021 May 28;30(9):836-842. doi: 10.1093/hmg/ddab062. PMID: 33693786.

Doyle DZ, Lam MM, Qalieh A, Qalieh Y, Sorel A, Funk OH, Kwan KY. Chromatin remodeler Arid1a regulates subplate neuron identity and wiring of cortical connectivity. Proc Natl Acad Sci U S A. 2021 May 25;118(21):e2100686118. doi: 10.1073/pnas.2100686118. PMID: 34011608.

Balendran V, Skidmore JM, Ritter KE, Gao J, Cimerman J, Beyer LA, Hurd EA, Raphael Y, Martin DM. Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning. Dev Biol. 2021 May 15;477:11-21. doi:10.1016/j.ydbio.2021.05.009. Epub ahead of print. PMID: 34004180.

Scott A, Martin DM. Development and implementation of an electronic medical record module to track genetic testing results. Genet Med. 2021 May;23(5):972-975. doi: 10.1038/s41436-020-01057-x. Epub 2021 Jan 26. PMID:33500566.

Yu W, Smolen CE, Hill SF, Meisler MH. Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse. Hum Mol Genet. 2021 May 29;30(10):902-907. doi:10.1093/hmg/ddab092. PMID: 33822038.

Carethers JM. Insights into disparities observed with COVID-19. J Intern Med.2021 Apr;289(4):463-473. doi: 10.1111/joim.13199. Epub 2020 Dec 6. PMID:33164230.

Kruger AN, Mueller JL. Mechanisms of meiotic drive in symmetric and asymmetric meiosis. Cell Mol Life Sci. 2021 Apr;78(7):3205-3218. doi:10.1007/s00018-020-03735-0. Epub 2021 Jan 15. PMID: 33449147; PMCID: PMC8043981. 

Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J,Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B,Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D,Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S,Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T,Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR; Brain Somatic Mosaicism Network, Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3.PMID: 33781308; PMCID: PMC8006362.

Meisler MH, Hill SF, Yu W. Sodium channelopathies in neurodevelopmental disorders. Nat Rev Neurosci. 2021 Mar;22(3):152-166. doi:10.1038/s41583-020-00418-4. Epub 2021 Feb 2. Erratum in: Nat Rev Neurosci. 2021 Apr;22(4):256. PMID: 33531663.

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Jia X, Burugula BB, Chen V, Lemons RM, Jayakody S, Maksutova M, Kitzman JO. Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk. Am J Hum Genet. 2020 Dec 17:S0002-9297(20)30439-0. doi:10.1016/j.ajhg.2020.12.003. Epub ahead of print. PMID: 33357406

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Yao H, Hannum DF, Zhai Y, Hill SF, Albanus RD', Lou W, Skidmore JM, Sanchez G, Saiakhova A, Bielas SL, Scacheri P, Ljungman M, Parker SCJ, Martin DM. CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression. Sci Rep. 2020 Oct 15;10(1):17445. doi: 10.1038/s41598-020-74537-4. PMID: 33060836; PMCID:PMC7562747.

Newman L, Winn RA, Carethers JM. Similarities in Risk for COVID-19 and Cancer Disparities. Clin Cancer Res. 2020 Oct 13:clincanres.3421.2020. doi:10.1158/1078-0432.CCR-20-3421. Epub ahead of print. PMID: 33051304.

Koi M, Okita Y, Takeda K, Koeppe ES, Stoffel EM, Galanko JA, McCoy AN, Keku T, Carethers JM. Co-morbid risk factors and NSAID use among white and black Americans that predicts overall survival from diagnosed colon cancer. PLoS One.2020 Oct 7;15(10):e0239676. doi: 10.1371/journal.pone.0239676. PMID: 33027290; PMCID: PMC7540856.

Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi:10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. PMID: 32938213.

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Larose H, Kent T, Ma Q, Shami AN, Harerimana N, Li JZ, Hammoud SS, Handel MA. Regulation of meiotic progression by Sertoli-cell androgen signaling. Mol Biol Cell. 2020 Oct 7:mbcE20050334. doi: 10.1091/mbc.E20-05-0334. Epub ahead of print. PMID: 33026960.

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Cheung LYM, Rizzoti K. Cell population characterization and discovery using single-cell technologies in endocrine systems. J Mol Endocrinol. 2020 Aug;65(2):R35-R51. doi: 10.1530/JME-19-0276. PMID: 32485670.

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Swanepoel CM, Gerlinger ER, Mueller JL. Large X-Linked Palindromes Undergo Arm-to-Arm Gene Conversion across Mus Lineages. Mol Biol Evol. 2020 Jul 1;37(7):1979-1985. doi: 10.1093/molbev/msaa059. PMID: 32145018; PMCID: PMC7306697.

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Roberts JS, Patterson AK, Uhlmann WR. Genetic testing for neurodegenerative diseases: Ethical and health communication challenges. Neurobiol Dis. 2020 Jul;141:104871. doi: 10.1016/j.nbd.2020.104871. Epub 2020 Apr 14. PMID: 32302673; PMCID: PMC7311284.

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Shami AN, Zheng X, Munyoki SK, Ma Q, Manske GL, Green CD, Sukhwani M, Orwig KE, Li JZ, Hammoud SS. Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis. Dev Cell. 2020 Jun 5:S1534-5807(20)30399-3. doi: 10.1016/j.devcel.2020.05.010. Epub ahead of print. PMID: 32504559.

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Tseng-Rogenski SS, Munakata K, Choi DY, Martin PK, Mehta S, Koi M, Zheng W, Zhang Y, Carethers JM. The Human DNA Mismatch Repair Protein MSH3 Contains Nuclear Localization and Export Signals That Enable Nuclear-Cytosolic Shuttling in Response to Inflammation. Mol Cell Biol. 2020 Jun 15;40(13):e00029-20. doi: 10.1128/MCB.00029-20. PMID: 32284349.

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Kregel S, Bagamasbad P, He S, LaPensee E, Raji Y, Brogley M, Chinnaiyan A, Cieslik M, Robins DM. Differential modulation of the androgen receptor for prostate cancer therapy depends on the DNA response element. Nucleic Acids Res. 2020 May 21;48(9):4741-4755. doi: 10.1093/nar/gkaa178. PMID: 32198885; PMCID: PMC7229860.

Diehl AG, Ouyang N, Boyle AP. Transposable elements contribute to cell and species-specific chromatin looping and gene regulation in mammalian genomes. Nat Commun. 2020 Apr 14;11(1):1796. doi: 10.1038/s41467-020-15520-5. PMID: 32286261;PMCID: PMC7156512. https://pubmed.ncbi.nlm.nih.gov/32286261/

Bando H, Gergics P, Bohnsack BL, Toolan KP, Richter CE, Shavit JA, Camper SA. Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease. Hum Mol Genet. 2020 Jun 27;29(10):1648-1657. doi: 10.1093/hmg/ddaa064. PMID: 32277752. https://pubmed.ncbi.nlm.nih.gov/32277752/

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Roberts JS, Patterson AK, Uhlmann WR. Genetic testing for neurodegenerative diseases: Ethical and health communication challenges. Neurobiol Dis. 2020 Apr 14;141:104871. doi: 10.1016/j.nbd.2020.104871. Epub ahead of print. PMID:32302673. https://pubmed.ncbi.nlm.nih.gov/32302673/

Sheldon JP, Oliver M, Yashar BM. Rewards and challenges of parenting a child with Down syndrome: a qualitative study of fathers' perceptions. Disabil Rehabil. 2020 Apr 7:1-12. doi: 10.1080/09638288.2020.1745907. Epub ahead of print. PMID: 32255374. https://pubmed.ncbi.nlm.nih.gov/32255374/

Samanta M, Kalantry S. Generating primed pluripotent epiblast stem cells: A methodology chapter. Curr Top Dev Biol. 2020;138:139-174. doi: 10.1016/bs.ctdb.2020.01.005. Epub 2020 Feb 27. PubMed PMID: 32220296.

Orchard P, Kyono Y, Hensley J, Kitzman JO, Parker SCJ. Quantification, Dynamic Visualization, and Validation of Bias in ATAC-Seq Data with ataqv. Cell Syst. 2020 Mar 25;10(3):298-306.e4. doi: 10.1016/j.cels.2020.02.009. PubMed PMID: 32213349.

Norton EL, Hornsby WE, Wu X, Wolford BN, Graham SE, Willer CJ, Yang B. Aortic progression and reintervention in patients with pathogenic variants after a thoracic aortic dissection. J Thorac Cardiovasc Surg. 2020 Feb 20. pii: S0022-5223(20)30471-2. doi: 10.1016/j.jtcvs.2020.01.094. [Epub ahead of print] PubMed PMID: 32199657.

Kregel S, Bagamasbad P, He S, LaPensee E, Raji Y, Brogley M, Chinnaiyan A, Cieslik M, Robins DM. Differential modulation of the androgen receptor for prostate cancer therapy depends on the DNA response element. Nucleic Acids Res. 2020 Mar 21. pii: gkaa178. doi: 10.1093/nar/gkaa178. [Epub ahead of print] PubMed PMID: 32198885.

Swanepoel CM, Gerlinger ER, Mueller JL. Large X-linked palindromes undergo arm-to-arm gene conversion across Mus lineages. Mol Biol Evol. 2020 Mar 7. pii: msaa059. doi: 10.1093/molbev/msaa059. [Epub ahead of print] PubMed PMID: 32145018.

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Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA. Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. Am J Med Genet A. 2020 Mar;182(3):493-497. doi: 10.1002/ajmg.a.61484. Epub 2020 Feb 5. PubMed PMID: 32022389.

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Cheung LYM, Camper SA. PROP1-Dependent Retinoic Acid Signaling Regulates Developmental Pituitary Morphogenesis and Hormone Expression. Endocrinology. 2020 Feb 1;161(2). pii: bqaa002. doi: 10.1210/endocr/bqaa002. PubMed PMID: 31913463; PubMed Central PMCID: PMC7029777.

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Meisner JK, Martin DM. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet C  Semin Med Genet. 2020 Mar;184(1):81-89. doi: 10.1002/ajmg.c.31761. Epub 2019 Dec 13. PubMed PMID: 31833191.

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