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.
- Evolutionary and Population Genetics
- Genome Structure and Function
- Molecular Basis of Mendelian Disorders
- Complex Traits and Diseases
- Developmental Genetics
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
Holmes MJ, Mahjour B, Castro CP, Farnum GA, Diehl AG, Boyle AP. HaplotagLR: An efficient and configurable utility for haplotagging long reads. PLoS One. 2024 Mar 13;19(3):e0298688. doi: 10.1371/journal.pone.0298688. PMID: 38478504; PMCID: PMC10936807.
Yang ML, Xu C, Gupte T, Hoffmann TJ, Iribarren C, Zhou X, Ganesh SK. Sex-specific genetic architecture of blood pressure. Nat Med. 2024 Mar;30(3):818-828. doi: 10.1038/s41591-024-02858-2. Epub 2024 Mar 8. PMID: 38459180.
de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chen D, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts AM, Gunturkun HM, Guryev V, Hourlier T, Howe K, Huang J, Kalbfleisch T, Kim P, Li L, Mahaffey S, Martin FJ, Mohammadi P, Ozel AB, Polesskaya O, Pravenec M, Prins P, Sebat J, Smith JR, Solberg Woods LC, Tabakoff B, Tracey A, Uliano-Silva M, Villani F, Wang H, Sharp BM, Telese F, Jiang Z, Saba L, Wang X, Murphy TD, Palmer AA, Kwitek AE, Dwinell MR, Williams RW, Li JZ, Chen H. A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats. Cell Genomics (2024). 2024 Mar 22:100527. doi: 10.1016/j.xgen.2024.100527. Epub ahead of print. PMID: 38537634.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. PMID: 38388531; PMCID: PMC10884030.
Malcore RM, Kalantry S. A Comparative Analysis of Mouse Imprinted and Random X-Chromosome Inactivation. Epigenomes. 2024 Feb 10;8(1):8. doi: 10.3390/epigenomes8010008. PMID: 38390899; PMCID: PMC10885068.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder. Genet Med. 2024 Feb 5:101097. doi: 10.1016/j.gim.2024.101097. Epub ahead of print. PMID: 38334070.
Gao J, Skidmore JM, Cimerman J, Ritter KE, Qiu J, Wilson LMQ, Raphael Y, Kwan KY, Martin DM. CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development. Proc Natl Acad Sci U S A. 2024 Mar 5;121(10):e2311720121. doi: 10.1073/pnas.2311720121. Epub 2024 Feb 26. PMID: 38408234.
Dugan RB, Yashar BM, Marvin M. Clinical Bootcamp: Moving toward competency outside of the clinic. J Genet Couns. 2024 Feb;33(1):135-141. doi: 10.1002/jgc4.1879. Epub 2024 Feb 12. PMID: 38344862.
Molnár Z, Kwan KY. Development and Evolution of Thalamocortical Connectivity. Cold Spring Harb Perspect Biol. 2024 Jan 2;16(1):a041503. doi:10.1101/cshperspect.a041503. PMID: 38167425; PMCID: PMC10759993.
Pérez Millán MI, Cheung LYM, Mercogliano F, Camilletti MA, Chirino Felker GT, Moro LN, Miriuka S, Brinkmeier ML, Camper SA. Pituitary stem cells: past, present and future perspectives. Nat Rev Endocrinol. 2024 Feb;20(2):77-92. doi:10.1038/s41574-023-00922-4. Epub 2023 Dec 15. PMID: 38102391.
Taverner NV, Trepanier AM, Yashar BM. Science, practice, and innovation in genetic counseling education: Introduction to the special issue. J Genet Couns. 2023 Dec;32(6):1106. doi: 10.1002/jgc4.1840. Epub 2023 Dec 6. PMID: 38053492.
Smith C, Kitzman JO. Benchmarking splice variant prediction algorithms using massively parallel splicing assays. Genome Biol. 2023 Dec 21;24(1):294. doi:10.1186/s13059-023-03144-z. PMID: 38129864; PMCID: PMC10734170.
Schon SB, Moritz L, Rabbani M, Meguid J, Juliano BR, Ruotolo BT, Aston K, Hammoud SS. Proteomic analysis of human sperm reveals changes in protamine 1 phosphorylation in men with infertility. F S Sci. 2023 Dec 7:S2666-335X(23)00073-3. doi: 10.1016/j.xfss.2023.12.002. [Epub ahead of print] PMID: 38065301.
Pérez Millán MI, Cheung LYM, Mercogliano F, Camilletti MA, Chirino Felker GT, Moro LN, Miriuka S, Brinkmeier ML, Camper SA. Pituitary stem cells: past, present and future perspectives. Nat Rev Endocrinol. 2023 Dec 15. doi:10.1038/s41574-023-00922-4. [Epub ahead of print] PMID: 38102391.
Lenhart K, Yashar BM, Sandhu G, Marvin M. Entrustment decision-making in genetic counseling supervision: Exploring supervisor and student perspectives to enhance training practices. J Genet Couns. 2023 Dec;32(6):1288-1300. doi:10.1002/jgc4.1712. Epub 2023 Apr 24. PMID: 37095722.
Hill SF, Yu W, Ziobro J, Chalasani S, Reger F, Meisler MH. Long-term downregulation of the sodium channel gene Scn8a is therapeutic in mouse models of SCN8A epilepsy. Ann Neurol. 2023 Dec 19. doi: 10.1002/ana.26861. [Epub ahead of print] PMID: 38113311.
Griffin MS, Dahlgren AR, Nagaswami C, Litvinov RI, Keeler K, Madenjian C, Fuentes R, Fish RJ, Neerman-Arbez M, Holinstat M, Adili R, Weisel JW, Shavit JA. Composition of thrombi in zebrafish: similarities and distinctions with mammals. J Thromb Haemost. 2023 Dec 29:S1538-7836(23)00927-3. doi:10.1016/j.jtha.2023.12.025. [Epub ahead of print] PMID: 38160724.
Giacalone JC, Parkinson DH, Balikov DA, Rao RC. AMD and Stem Cell-Based Therapies. Int Ophthalmol Clin. 2024 Jan 1;64(1):21-33. doi:10.1097/IIO.0000000000000510. Epub 2023 Dec 26. PMID: 38146879.
Ernst G, Huser N, Koeller DR, Hulswit B, Bender-Bernstein H, Muir S, Brogdon-Soster E, Yashar BM. Learning from our patients: Utilizing the expertise of transgender and/or gender diverse educators to build an inclusive learning cycle. J Genet Couns. 2023 Dec;32(6):1154-1160. doi: 10.1002/jgc4.1762. Epub 2023 Aug 12. PMID: 37571912.
Balikov DA, Conway K, Brown NA, Camelo-Piragua S, Rao RC. Molecular Analysis of Liquid Vitreous Biopsy Reveals Occult Lymphoma Following Cytology-Negative Biopsies of the Brain and Vitreous. Ocul Immunol Inflamm. 2023 Dec 18:1-9. doi:10.1080/09273948.2023.2287061. [Epub ahead of print] PMID: 38109211.
Katz AE, Ganesh SK. Advancements in the Genetics of Spontaneous Coronary Artery Dissection. Curr Cardiol Rep. 2023 Nov 18. doi: 10.1007/s11886-023-01989-1. [Epub ahead of print] Review. PMID: 37979122.
Laufer VA, Glover TW, Wilson TE. Applications of advanced technologies for etecting genomic structural variation. Mutat Res Rev Mutat Res. 2023 Nov 4;792:108475. doi: 10.1016/j.mrrev.2023.108475. [Epub ahead of print] Review. PMID: 37931775.
Tang VT, Abbineni PS, Veiga Leprevost FD, Basrur V, Khoriaty R, Emmer BT, Nesvizhskii AI, Ginsburg D. Identification of LMAN1- and SURF4-Dependent Secretory Cargoes. J Proteome Res. 2023 Nov 3;22(11):3439-3446. doi:10.1021/acs.jproteome.3c00259. Epub 2023 Oct 16. PMID:37844105; PMCID: PMC10629478.
Schall PZ, Winkler PA, Petersen-Jones SM, Yuzbasiyan-Gurkan V, Kidd JM. Genome-wide methylation patterns from canine nanopore assemblies. G3 (Bethesda). 023 Nov 1;13(11). pii: jkad203. doi: 10.1093/g3journal/jkad203. PMID: 37681359; PMCID: PMC10627269.
Pan WW, Portney DS, Mian SI, Rao RC. The Cost of Standard and Complex Pars Plana Vitrectomy for Retinal Detachment Repair Exceeds Its Reimbursement. Ophthalmol Retina. 2023 Nov;7(11):948-953. doi: 10.1016/j.oret.2023.06.021. Epub 2023 Jul 1. PMID: 37399975.
Fishbein JE, Dass LW, Lienczewski C, Kretzler M, Gbadegesin RA, Roberts JS; NEPTUNE; Sampson MG, Uhlmann WR. Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators. Glomerular Dis. 2023 Aug 21;3(1):178-188. doi: 10.1159/000533501. eCollection 2023 Jan-Dec. PMID: 37901694.
Hill SF, Jafar-Nejad P, Rigo F, Meisler MH. Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy. Front Neurosci. 2023 Oct 13;17:1282201. doi: 10.3389/fnins.2023.1282201. PMID:37901435; PMCID: PMC10603267.
Xu Z, Jobe SM, Ma YQ, Shavit JA. A novel LAD-III mutation manifests functional importance of the compact FERM domain in Kindlin-3. J Thromb Haemost. 023 Oct 20:S1538-7836(23)00782-1. doi: 10.1016/j.jtha.2023.10.013. [Epub ahead of print] PMID: 37866516.
Schuster KH, McLoughlin HS. Disease-associated oligodendrocyte signatures in neurodegenerative disease: the known and unknown. Neural Regen Res. 2023 Oct;18(10):2192-2193. doi: 10.4103/1673-5374.368302. PMID: 36875652; PMCID: PMC9975394.
Mengel D, Wellik IG, Schuster KH, Jarrah SI, Wacker M, Ashraf NS, Öz G, Synofzik M, Costa MDC, McLoughlin HS. Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3. Dis Model Mech. 2023 Sep 1;16(9):dmm050144. doi: 10.1242/dmm.050144. Epub 2023 Sep 4. PMID: 37664882; PMCID: PMC10499033.
Cathy Smith, Bala Bharathi Burugula, Ian Dunn, Swaroop Aradhya, Jacob O. Kitzman, Jennifer Lai Yee, High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome, Kidney International Reports, 2023, ISSN 2468-0249, https://doi.org/10.1016/j.ekir.2023.07.033.
Cao X, Lenk GM, Meisler MH. Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c. G3 (Bethesda). 2023 Aug 9;13(8):jkad007. doi: 10.1093/g3journal/jkad007. PMID:36691351; PMCID: PMC10411592.
Baymiller M, Moon SL. Stress Granules as Causes and Consequences of Translation Suppression. Antioxid Redox Signal. 2023 Aug;39(4-6):390-409. doi:10.1089/ars.2022.0164. Epub 2023 Jun 28. PMID: 37183403; PMCID: PMC10443205.
Dorta-Estremera SM, Peterson EA, Pérez-Santiago J, Sekiguchi JM. Editorial: Interplay between oncomicrobes, the microbiota and the immune system: impact on responses to cancer immunotherapy. Front Immunol. 2023 Aug 15;14:1269020. doi:10.3389/fimmu.2023.1269020. PMID: 37654498; PMCID: PMC10466121.
Moritz L, Schon SB, Rabbani M, Sheng Y, Agrawal R, Glass-Klaiber J, Sultan C, Camarillo JM, Clements J, Baldwin MR, Diehl AG, Boyle AP, O'Brien PJ, Ragunathan K, Hu YC, Kelleher NL, Nandakumar J, Li JZ, Orwig KE, Redding S, Hammoud SS. Sperm chromatin structure and reproductive fitness are altered by substitution of a single amino acid in mouse protamine 1. Nat Struct Mol Biol. 2023 Aug;30(8):1077-1091. doi: 10.1038/s41594-023-01033-4. Epub 2023 Jul 17. PMID:37460896.
Jayappa KD, Tran B, Gordon VL, Morris C, Saha S, Farrington CC, O'Connor CM, Zawacki KP, Isaac KM, Kester M, Bender TP, Williams ME, Portell CA, Weber MJ, Narla G. PP2A modulation overcomes multidrug resistance in chronic lymphocytic leukemia via mPTP-dependent apoptosis. J Clin Invest. 2023 Jul 3;133(13):e155938. doi: 10.1172/JCI155938. PMID: 37166997; PMCID: PMC10313372.
Cao X, Lenk GM, Mikusevic V, Mindell JA, Meisler MH. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG 4 and VAC14 mutants. PLoS Genet. 2023 Jun 26;19(6):e1010800. doi: 10.1371/journal.pgen.1010800. [Epub ahead of print] PMID: 37363915.
Mumm C, Drexel ML, McDonald TL, Diehl AG, Switzenberg JA, Boyle AP. Multiplexed long-read plasmid validation and analysis using OnRamp. Genome Res.2023 May 8. doi: 10.1101/gr.277369.122. [Epub ahead of print] PMID: 37156622.
Cheung LYM, Menage L, Rizzoti K, Hamilton G, Dumontet T, Basham K, Daly AZ, Brinkmeier ML, Masser BE, Treier M, Cobb J, Delogu A, Lovell-Badge R, Hammer GD, Camper SA. Novel candidate regulators and developmental trajectory of pituitary thyrotropes. Endocrinology. 2023 May 15;164(6):bqad076. doi:10.1210/endocr/bqad076. [Epub ahead of print] PMID: 37183548; PMCID: PMC10227867.
Wilson TE, Ahmed S, Higgins J, Salk JJ, Glover TW. svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing. NAR Genom Bioinform. 2023 May 9;5(2):lqad042. doi:10.1093/nargab/lqad042. PMID: 37181851; PMCID: PMC10167630.
McLoughlin HS, Gundry K, Rainwater O, Schuster KH, Wellik IG, Zalon AJ, Benneyworth MA, Eberly LE, Öz G. Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice. Ann Neurol. 2023 Oct;94(4):658-671. doi: 10.1002/ana.26713. Epub 2023 Aug 2. PMID: 37243335.
Serpen JY, Presley W, Beil A, Armenti ST, Johnson K, Mian SI, Innis JW, Prasov L. A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification. Genes (Basel). 2023 May 1;14(5):1034. doi: 10.3390/genes14051034.PMID: 37239394; PMCID: PMC10218699.
Daniel JG, Yu X, Ferguson AC, Shavit JA. CRISPR/Cas9-Mediated Genome Editing in Zebrafish. Methods Mol Biol. 2023;2631:371-380. doi:10.1007/978-1-0716-2990-1_17. PMID: 36995678.
Ragni MV, Young G, Batsuli G, Bisson E, Carpenter SL, Croteau SE, Cuker A, Curtis RG, Denne M, Ewenstein B, Federizo A, Frick N, Funkhouser K, George LA, Hoots WK, Jobe SM, Krava E, Langmead CJ, Lewis RJ, López J, Malec L, Mann Z, Miles ME 3rd, Neely E, Neufeld EJ, Pierce GF, Pipe SW, Pitler LR, Raffini L, Schnur KM, Shavit JA. Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: facilitating research through infrastructure, workforce, resources and funding. Expert Rev Hematol. 2023 Mar;16(sup1):107-127. doi: 10.1080/17474086.2023.2181781. PMID: 36920855.
Meyer-Schuman R, Marte S, Smith TJ, Feely SME, Kennerson M, Nicholson G, Shy ME, Koutmou KS, Antonellis A. A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations. Hum Mol Genet. 2023 Jun 19;32(13):2177-2191. doi: 10.1093/hmg/ddad054. PMID: 37010095; PMCID: PMC10281750.
Ryan CW, Peirent ER, Regan SL, Guxholli A, Bielas SL. H2A monoubiquitination: insights from human genetics and animal models. Hum Genet. 2023 Apr 22. doi:10.1007/s00439-023-02557-x. [Epub ahead of print] PMID: 37086328.
Dugan RB, Pletneva MA, Salari K, Berman DR, Treadwell MC. Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. Prenat Diagn. 2014 Feb;34(2):199-201. doi:10.1002/pd.4274. Epub 2013 Nov 28. PMID: 24284886.
Hesson AM, Langen ES, Plazyo O, Gudjonsson JE, Ganesh SK. Placental transcriptome analysis of hypertensive pregnancies identifies distinct gene expression profiles of preeclampsia superimposed on chronic hypertension. BMC Med Genomics. 2023 May 2;16(1):91. doi: 10.1186/s12920-023-01522-x. PMID:37131171; PMCID: PMC10152005.
Porter RS, Iwase S. Modulation of chromatin architecture influences the neuronal nucleus through activity-regulated gene expression. Biochem Soc Trans. 2023 Apr 26;51(2):703-713. doi: 10.1042/BST20220889. PMID: 36929379.
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.
Njoku IP, Kwan KY. Distinct microtubule networks mediate neuronal migration and polarization. Neuron. 2023 Apr 19;111(8):1168-1170. doi:10.1016/j.neuron.2023.03.026. PMID: 37080166.
Bond E, Yashar B, Else T, Osborne J, Marvin M. Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease. Fam Cancer.2023 Apr;22(2):203-215. doi: 10.1007/s10689-022-00311-2. Epub 2022 Aug 19. PMID:35984582.
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.
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.
Balikov DA, Cornblath WT, Rao RC. Congenital Horner's syndrome observed in an adult. Can J Ophthalmol. 2023 Apr;58(2):e70-e71. doi:10.1016/j.jcjo.2022.07.013. Epub 2022 Aug 28. PMID: 36030817.
Camper SA, Smith C, Kitzman JO. Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases. Endocrinology. 2023 Mar 13;164(5):bqad039. doi: 10.1210/endocr/bqad039. PMID:36857601.
Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development Overview. 2008 May 21 [updated 2022 Aug 18]. In: Adam MP, Mirzaa GM,Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.GeneReviews Seattle (WA): University of Washington,Seattle; 1993–2023. PMID: 20301714. Review in a Book
Kallash M, Wang Y, Smith A, Trachtman H, Gbadegesin R, Nester C, Canetta P,Wang C, Hunley TE, Sperati CJ, Selewski D, Ayoub I, Srivastava T, Mottl AK, Kopp J, Gillespie B, Robinson B, Chen D, Steinke J, Twombley K, Reidy K, Mucha K,Greenbaum LA, Blazius B, Helmuth M, Yonatan P, Parekh RS, Hogan S, Royal V, D'Agati V, Chishti A, Falk R, Gharavi A, Holzman L, Klein J, Smoyer W, Kretzler M, Gipson D, Kidd JM; CureGN*. Rapid Progression of Focal Segmental Glomerulosclerosis in Patients with High-Risk APOL1 Genotypes. Clin J Am Soc Nephrol. 2023 Mar 1;18(3):344-355. doi: 10.2215/CJN.0000000000000069. Epub 2023 Feb 8. PMID: 36763813.
Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L. Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic. Genes (Basel). 2023 Mar 15;14(3):726. doi:10.3390/genes14030726. PMID: 36980998; PMCID: PMC10048684.
Bonefas KM, Vallianatos CN, Raines B, Tronson NC, Iwase S. Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C. Cells. 2023 Feb 16;12(4):637. doi: 10.3390/cells12040637. PMID:36831303; PMCID: PMC9954040.
Putka AF, McLoughlin HS. Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes. Neuron. 2023 Feb 15;111(4):447-449. doi:10.1016/j.neuron.2023.01.021. PMID: 36796325.
Putka AF, Mato JP, McLoughlin HS. Myelinating Glia: Potential Therapeutic Targets in Polyglutamine Spinocerebellar Ataxias. Cells. 2023 Feb 13;12(4):601.doi: 10.3390/cells12040601. PMID: 36831268; PMCID: PMC9953858.
Winningham AH, Camper SA. Pituitary stem cell regulation by Zeb2 and BMP signaling. Endocrinology. 2023 Jan 23:bqad016. doi: 10.1210/endocr/bqad016. [Epub ahead of print] PMID: 36683433.
Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, Saveanu A, Albarel F,Dupuis C, Brue T, Camper SA. Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man. Hum Mol Genet. 2023 Jan 13;32(3):367-385. doi: 10.1093/hmg/ddac192. PMID: 35951005; PMCID: PMC9851746.
Tang VT, Ginsburg D. Cargo selection in endoplasmic reticulum-to-Golgi transport and relevant diseases. J Clin Invest. 2023 Jan 3;133(1):e163838. doi:10.1172/JCI163838. PMID: 36594468; PMCID: PMC9797344.
Miller IM, Yashar BM; Undiagnosed Disease Network; Macnamara EF. Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet J Rare Dis. 2023 Jan 9;18(1):6. doi: 10.1186/s13023-022-02598-x. PMID:36624503; PMCID: PMC9830697.
Del Greco C, Antonellis A. The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease. Genes (Basel). 2022 Dec 9;13(12):2319. doi: 10.3390/genes13122319. PMID: 36553587; PMCID: PMC9777667.
Osafo C, Thomford NE, Coleman J, Carboo A, Guure C, Okyere P, Adu D, Adanu R, Parekh RS, Burke D. APOL1 genotype associated risk for preeclampsia in African populations: Rationale and protocol design for studies in women of African ancestry in resource limited settings. PLoS One. 2022 Dec 29;17(12):e0278115.doi: 10.1371/journal.pone.0278115. PMID: 36580463; PMCID: PMC9799323.
Katz AE, Yang ML, Levin MG, Tcheandjieu C, Mathis M, Hunker K, Blackburn S, Eliason JL, Coleman DM, Fendrikova-Mahlay N, Gornik HL, Karmakar M, Hill H, Xu C, Zawistowski M, Brummett CM, Zoellner S, Zhou X, O'Donnell CJ, Douglas JA, Assimes TL, Tsao PS, Li JZ, Damrauer SM, Stanley JC, Ganesh SK; VA Million Veteran Program. Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture. Circ Genom Precis Med. 2022 Dec;15(6):e003496. doi: 10.1161/CIRCGEN.121.003496. Epub 2022 Nov 14. PMID: 36374587; PMCID: PMC9772208.
Haynes LM, Huttinger ZM, Yee A, Kretz CA, Siemieniak DR, Lawrence DA, Ginsburg D. Deep mutational scanning and massively parallel kinetics of plasminogen activator inhibitor-1 functional stability to probe its latency transition. J Biol Chem. 2022 Dec;298(12):102608. doi:10.1016/j.jbc.2022.102608. Epub 2022 Oct 17. PMID: 36257408; PMCID: PMC9667310.
Scott A, Hernandez F, Chamberlin A, Smith C, Karam R, Kitzman JO. Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome. Genome Biol. 2022 Dec 22;23(1):266. doi: 10.1186/s13059-022-02839-z. PMID: 36550560; PMCID: PMC9773515.
Lenk GM, Meisler MH. Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice. Mol Genet Metab. 2022 Dec;137(4):382-387. doi: 10.1016/j.ymgme.2022.11.004. Epub 2022 Nov 12. PMID:36434903.
Ritter KE, Lynch SM, Gorris AM, Beyer LA, Kabara L, Dolan DF, Raphael Y, Martin DM. Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion. Hear Res. 2022 Dec;426:108633. doi: 10.1016/j.heares.2022.108633. Epub 2022 Oct 13. PMID:36288662.
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