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  

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. 2021 Sep 13. doi: 10.1111/febs.16196. Epub ahead of print. PMID: 34514717

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.

Beil A, Hornsby W, Uhlmann WR, Aatre R, Arscott P, Wolford B, Eagle KA, Yang B, McNamara J, Willer C, Roberts JS. Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants. BMC Med Genomics.2021 Mar 1;14(1):66. doi: 10.1186/s12920-021-00902-5. PMID: 33648514

D'Oliveira Albanus R, Kyono Y, Hensley J, Varshney A, Orchard P, Kitzman JO, Parker SCJ. Chromatin information content landscapes inform transcription factor and DNA interactions. Nat Commun. 2021 Feb 26;12(1):1307. doi:10.1038/s41467-021-21534-4. PMID: 33637709

Kohrman DC, Borges BC, Cassinotti LR, Ji L, Corfas G. Axon-glia interactions in the ascending auditory system. Dev Neurobiol. 2021 Feb 9. doi:10.1002/dneu.22813. Epub ahead of print. PMID: 33561889

Lloyd JP, Soellner MB, Merajver SD, Li JZ. Impact of between-tissue differences on pan-cancer predictions of drug sensitivity. PLoS Comput Biol.2021 Feb 25;17(2):e1008720. doi: 10.1371/journal.pcbi.1008720. PMID: 33630864

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. PMID: 33531663

Omenn GS. Reflections on the HUPO Human Proteome Project, the Flagship Project of the Human Proteome Organization, at 10 Years. Mol Cell Proteomics.2021 Feb 25:100062. doi: 10.1016/j.mcpro.2021.100062. Epub ahead of print. PMID:33640492

Saunders RA, Michniacki TF, Hames C, Moale HA, Wilke C, Kuo ME, Nguyen J, Hartlerode AJ, Moore BB, Sekiguchi JM. Elevated inflammatory responses and targeted therapeutic intervention in a preclinical mouse model of ataxia-telangiectasia lung disease. Sci Rep. 2021 Feb 19;11(1):4268. doi:10.1038/s41598-021-83531-3. PMID: 33608602; PMCID: PMC7895952. 

Marzulla T, Roberts JS, DeVries R, Koeller DR, Green RC, Uhlmann WR. Genetic counseling following direct-to consumer genetic testing: Consumer perspectives.J Genet Couns. 2021 Feb;30(1):329-334. doi: 10.1002/jgc4.1309. Epub 2020 Jul 9.PMID: 32648332

Wu KH, Hornsby WE, Klunder B, Krause A, Driscoll A, Kulka J, Bickett-Hickok R, Fellows A, Graham S, Kaleba EO, Hayek SS, Shi X, Sutton NR, Douville N,Mukherjee B, Jamerson K, Brummett CM, Willer CJ. Exposure and risk factors for COVID-19 and the impact of staying home on Michigan residents. PLoS One. 2021 Feb 8;16(2):e0246447. doi: 10.1371/journal.pone.0246447. PMID: 33556117; PMCID: PMC7870003. 

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

Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH. Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. Epilepsia. 2020 Dec;61(12):2847-2856. doi: 10.1111/epi.16741. Epub 2020 Nov 2. PMID:33140451; PMCID: PMC7756374. 

Love-Nichols J, Uhlmann WR, Arscott P, Willer C, Hornsby W, Roberts JS. A survey of aortic disease biorepository participants' preferences for return of research genetic results. J Genet Couns. 2020 Dec 14. doi: 10.1002/jgc4.1341.Epub ahead of print. PMID: 33319384

Carethers JM. Insights into Disparities Observed with COVID-19. J Intern Med.2020 Nov 8. doi: 10.1111/joim.13199. Epub ahead of print. PMID: 33164230.

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.

Everett LA, Khoriaty RN, Zhang B, Ginsburg D. Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression. Blood Adv.2020 Nov 24;4(22):5635-5643. doi: 10.1182/bloodadvances.2020002523. PMID:33196840; PMCID: PMC7686883.

Glover TW, Wilson TE. Twin peaks: finding fragile sites with MiDAS-seq. Cell Res. 2020 Nov;30(11):944-945. doi: 10.1038/s41422-020-0376-8. PMID: 32665662.

Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH.Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. Epilepsia.2020 Nov 2. doi: 10.1111/epi.16741. Epub ahead of print. PMID: 33140451.

Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS,Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 Nov 17;10(1):19986. doi:10.1038/s41598-020-76725-8. PMID: 33203948; PMCID: PMC7672112.

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.

Glover TW, Wilson TE. Twin peaks: finding fragile sites with MiDAS-seq. Cell Res. 2020 Nov;30(11):944-945. doi: 10.1038/s41422-020-0376-8. PMID: 32665662.

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.

Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH.Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. Epilepsia.2020 Nov 2. doi: 10.1111/epi.16741. Epub ahead of print. PMID: 33140451

Surakka I, Fritsche LG, Zhou W, Backman J, Kosmicki JA, Lu H, Brumpton B,Nielsen JB, Gabrielsen ME, Skogholt AH, Wolford B, Graham SE, Chen YE, Lee S,Kang HM, Langhammer A, Forsmo S, Åsvold BO, Styrkarsdottir U, Holm H,Gudbjartsson D, Stefansson K, Baras A; Regeneron Genetics Center, Abecasis GR,Hveem K, Willer CJ. MEPE loss-of-function variant associates with decreased bone d increased fracture risk. Nat Commun. 2020 Oct 23;11(1):4093.doi: 10.1038/s41467-020-17315-0. PMID: 33097703; PMCID: PMC7585430.

Fogarty EA, Kitzman JO, Antonellis A. SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells. BMC Genomics. 2020 Aug 8;21(1):549. doi: 10.1186/s12864-020-06963-7. PMID: 32770939; PMCID: PMC7430845.

Brinkmeier ML, Bando H, Camarano AC, Fujio S, Yoshimoto K, de Souza FS, Camper SA. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors. J Clin Invest. 2020 Aug 3;130(8):4501-4515. doi:10.1172/JCI136745. PMID: 32453714; PMCID: PMC7410063.

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.

Westrick RJ, Røjkjaer LP, Yang AY, Roh MH, Siebert AE, Ginsburg D. Deficiency of Plasminogen Activator Inhibitor-2 Results in Accelerated Tumor Growth. J Thromb Haemost. 2020 Aug 11. doi: 10.1111/jth.15054. Epub ahead of print. PMID:32780555.

Garay PM, Chen A, Tsukahara T, Rodríguez Díaz JC, Kohen R, Althaus JC,Wallner MA, Giger RJ, Jones KS, Sutton MA, Iwase S. RAI1 Regulates Activity-Dependent Nascent Transcription and Synaptic Scaling. Cell Rep. 2020 Aug 11;32(6):108002. doi: 10.1016/j.celrep.2020.108002. PMID: 32783930; PMCID: PMC7418709.

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 Aug 24;54(4):529-547.e12. doi: 10.1016/j.devcel.2020.05.010. Epub 2020 Jun 5. PMID: 32504559.

Uhlmann WR, Hoskovec J, Freivogel M. 40 years and beyond for the National Society of Genetic Counselors: Reflections on genetic counseling practice. J Genet Couns. 2020 Jul 8. doi: 10.1002/jgc4.1301. Epub ahead of print. PMID:32643233.

Ouyang N, Boyle AP. TRACE: transcription factor footprinting using chromatin accessibility data and DNA sequence. Genome Res. 2020 Jul 6:gr.258228.119. doi: 10.1101/gr.258228.119. Epub ahead of print. PMID: 32660981.

Brinkmeier ML, Bando H, Camarano AC, Fujio S, Yoshimoto K, de Souza FS, Camper SA. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors. J Clin Invest. 2020 Jul 20:136745. doi: 10.1172/JCI136745. Epub ahead of print. PMID: 32453714.

Desch KC, Ozel AB, Halvorsen M, Jacobi PM, Golden K, Underwood M, Germain M, Tregouet DA, Reitsma PH, Kearon C, Mokry L, Richards JB, Williams F, Li JZ, Goldstein D, Ginsburg D. Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood. 2020 Jul 30;136(5):533-541. doi: 10.1182/blood.2019004161. PMID: 32457982.

Glover TW, Wilson TE. Twin peaks: finding fragile sites with MiDAS-seq. Cell Res. 2020 Jul 14. doi: 10.1038/s41422-020-0376-8. Epub ahead of print. PMID: 32665662.

Keil JM, Doyle DZ, Qalieh A, Lam MM, Funk OH, Qalieh Y, Shi L, Mohan N, Sorel A, Kwan KY. Symmetric neural progenitor divisions require chromatin-mediated homologous recombination DNA repair by Ino80. Nat Commun. 2020 Jul 31;11(1):3839. doi: 10.1038/s41467-020-17551-4. PMID: 32737294.

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.

Marzulla T, Roberts JS, DeVries R, Koeller DR, Green RC, Uhlmann WR. Genetic counseling following direct-to consumer genetic testing: Consumer perspectives. J Genet Couns. 2020 Jul 9. doi: 10.1002/jgc4.1309. Epub ahead of print. PMID: 32648332.

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.

He Y, Yu H, Ong E, Wang Y, Liu Y, Huffman A, Huang HH, Beverley J, Hur J, Yang X, Chen L, Omenn GS, Athey B, Smith B. CIDO, a community-based ontology for coronavirus disease knowledge and data integration, sharing, and analysis. Sci Data. 2020 Jun 12;7(1):181. doi: 10.1038/s41597-020-0523-6. PMID: 32533075; PMCID: PMC7293349.

Moon SL, Morisaki T, Stasevich TJ, Parker R. Coupling of translation quality control and mRNA targeting to stress granules. J Cell Biol. 2020 Aug 3;219(8):e202004120. doi: 10.1083/jcb.202004120. PMID: 32520986.

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.

Vallianatos CN, Raines B, Porter RS, Bonefas KM, Wu MC, Garay PM, Collette KM, Seo YA, Dou Y, Keegan CE, Tronson NC, Iwase S. Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation. Commun Biol. 2020 Jun 1;3(1):278. doi: 10.1038/s42003-020-1001-6. Erratum in: Commun Biol. 2020 Jun 22;3(1):331. PMID: 32483278; PMCID: PMC7264178.

Desch K, Ozel AB, Halvorsen M, Jacobi PM, Golden KL, Underwood MI, Germain M, Trégouët DA, Reitsma PH, Kearon C, Mokry L, Richards B, Williams F, Li J, Goldstein DB, Ginsburg D. Whole exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood. 2020 May 26:blood.2019004161. doi: 10.1182/blood.2019004161. Epub ahead of print. PMID:32457982.

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