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   

Nguyen AK, Blacksmith MS, Kidd JM. Duplications and retrogenes are numerous and widespread in modern canine genomic assemblies. Genome Biol Evol. 2024 Jul1:evae142. doi: 10.1093/gbe/evae142. Epub ahead of print. PMID: 38946312.

Katz AE, Gupte T, Ganesh SK. From Atherosclerosis to Spontaneous Coronary Artery Dissection: Defining a Clinical and Genetic Risk Spectrum for Myocardial Infarction. Curr Atheroscler Rep. 2024 Jul;26(7):331-340. doi:10.1007/s11883-024-01208-4. Epub 2024 May 18. PMID: 38761354.

Toolan KP, McGrath BT, Brinkmeier ML, Camper SA, Bielas SL. Ash1 l loss-of-function results in structural birth defects and altered cortical development.Brain. 2024 Jun 30: awae218. doi: 10.1093/brain/awae218. Epub ahead of print. PMID: 38943682.

Hartlerode AJ, Mostafa AM, Orban SK, Benedeck R, Campbell K, Hoenerhoff MJ, Ferguson DO, Sekiguchi JM. Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder. Hum Mol Genet. 2024 Jun 18:ddae101. doi: 10.1093/hmg/ddae101. Epub ahead of print. PMID: 38888340.

Moldovan JB, Kopera HC, Liu Y, Garcia-Canadas M, Catalina P, Leone PE, Sanchez L, Kitzman JO, Kidd JM, Garcia-Perez JL, Moran JV. Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes. bioRxiv [Preprint]. 2024 May 3:2024.05.03.592410. doi: 10.1101/2024.05.03.592410. Update in: Nucleic Acids Res. 2024 Jun 08:gkae448. doi: 10.1093/nar/gkae448. PMID: 38746229; PMCID: PMC11092746.

Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6. PMID: 38816421; PMCID: PMC11140003.

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 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. PMID: 38334070.

Sun C, Kathuria K, Emery SB, Kim B, Burbulis IE, Shin JH; Brain Somatic Mosaicism Network; Weinberger DR, Moran JV, Kidd JM, Mills RE, McConnell MJ. Mapping recurrent mosaic copy number variation in human neurons. Nat Commun. 2024 May 17;15(1):4220. doi: 10.1038/s41467-024-48392-0. PMID: 38760338; PMCID: PMC11101435.

Moon SL. Translation feedback control in the brain. Nat Rev Mol Cell Biol. 2024 May 2. doi: 10.1038/s41580-024-00741-z. Epub ahead of print. PMID: 38698077.

Schuster KH, Zalon AJ, DiFranco DM, Putka AF, Stec NR, Jarrah SI, Naeem A, Haque Z, Zhang H, Guan Y, McLoughlin HS. ASOs are an effective treatment for disease-associated oligodendrocyte signatures in premanifest and symptomatic SCA3 mice. Mol Ther. 2024 May 1;32(5):1359-1372. doi: 10.1016/j.ymthe.2024.02.033. Epub 2024 Feb 29. PMID: 38429929; PMCID: PMC11081874.

Tang VT, Xiang J, Chen Z, McCormick J, Abbineni PS, Chen XW, Hoenerhoff M, Emmer BT, Khoriaty R, Lin JD, Ginsburg D. Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo. bioRxiv [Preprint]. 2024 Feb 29:2024.02.27.582310. doi: 10.1101/2024.02.27.582310. Update in: Proc Natl Acad Sci U S A. 2024 May 7;121(19):e2322164121. doi: 10.1073/pnas.2322164121. PMID: 38463989; PMCID: PMC10925261.

Swanepoel CM, Mueller JL. Out with the old, in with the new: Meiotic driving of sex chromosome evolution. Semin Cell Dev Biol. 2024 Apr 24:S1084-9521(24)00041-7. doi: 10.1016/j.semcdb.2024.04.004. Epub ahead of print. PMID: 38664120

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. 2024 Apr;22(4):1056-1068. doi: 10.1016/j.jtha.2023.12.025. Epub 2023 Dec 30. PMID: 38160724.

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

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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.

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.

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.

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.

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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.

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 USA. 2021 May 25;118(21):e2100686118. doi: 10.1073/pnas.2100686118. PMID: 34011608.

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.

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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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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

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

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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

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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

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

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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.

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.

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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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. PMCID: PMC7879256.

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. PMID: 32660981.  PMCID: PMC7397869.

Desch KC, Ozel AB, Halvorsen M, Jacobi PM, Golden K, Underwood M, Germain M, Trégouët 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.

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.

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. PMCID: PMC7401812.

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.

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. PMCID: PMC7296213.

Arlt MF, Brogley MA, Stark-Dykema ER, Hu YC, Mueller JL. Genomic Structure, Evolutionary Origins, and Reproductive Function of a Large Amplified Intrinsically Disordered Protein-Coding Gene on the X Chromosome (<i>Laidx</i>) in Mice. G3 (Bethesda). 2020 Jun 1;10(6):1997-2005. doi: 10.1534/g3.120.401221. PMID: 32253194; PMCID: PMC7263670.

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.

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. PMCID: PMC7322578.

Leonard D, Huang W, Izadmehr S, O'Connor CM, Wiredja DD, Wang Z, Zaware N, Chen Y, Schlatzer DM, Kiselar J, Vasireddi N, Schüchner S, Perl AL, Galsky MD, Xu W, Brautigan DL, Ogris E, Taylor DJ, Narla G. Selective PP2A Enhancement through Biased Heterotrimer Stabilization. Cell. 2020 Apr 30;181(3):688-701.e16.doi: 10.1016/j.cell.2020.03.038. Epub 2020 Apr 20. PMID: 32315618; PMCID: PMC7243596.

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. PMID: 32220296; PMCID: PMC7311189.

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. PMID: 32213349; PMCID: PMC8245295.

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. PMID: 32199657; PMCID: PMC7438314.

Rai V, Quang DX, Erdos MR, Cusanovich DA, Daza RM, Narisu N, Zou LS, Didion JP, Guan Y, Shendure J, Parker SCJ, Collins FS. Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures. Mol Metab. 2020 Feb; 32:109-121. doi: 10.1016/j.molmet.2019.12.006. Epub 2019 Dec 20. PMID: 32029221; PMCID: PMC6961712.

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. PMID: 32022389; PMCID: PMC8041260.

Lenk GM, Jafar-Nejad P, Hill SF, Huffman LD, Smolen CE, Wagnon JL, Petit H, Yu W, Ziobro J, Bhatia K, Parent J, Giger RJ, Rigo F, Meisler MH. Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome. Ann Neurol. 2020 Mar;87(3):339-346. doi: 10.1002/ana.25676. Epub 2020 Feb 6. PMID: 31943325; PMCID: PMC7064908.

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. PMID: 31913463; PMCID: PMC7029777.

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Kuo ME, Antonellis A. Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging. Trends Genet. 2020 Feb;36(2):105-117. doi: 10.1016/j.tig.2019.11.007. Epub 2019 Dec 12. Review. PMID: 31839378; PMCID: PMC6980692.

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. PMID: 31833191.

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Read P, Yashar BM, Robinson L, Marvin M. Optimizing efficiency and skill utilization: Analysis of genetic counselors' attitudes regarding delegation in a clinical setting. J Genet Couns. 2020 Feb;29(1):67-77. doi: 10.1002/jgc4.1181. Epub 2019 Nov 13. PMID: 31721370.

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