Jessica Gardner, Ph.D - Related publications

Affiliations: 
Pharmacology & Experimental Neuroscience University of Nebraska Medical Center, Omaha, NE, United States 
Area:
neuroinflammation, astrocytes, glia
Website:
http://www.unmc.edu/research_editorial.htm
NOTE: We are testing a new system for identifying relevant work based on semantic analysis that identifies similarities between recently published papers and the current author's publications. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches.
50 most relevant papers in past 60 days:
Year Citation  Score
2021 Cheng J, Zhou Q, Fu J, Wei C, Zhang L, Khan MSS, Lv H, Anuchapreeda S, Fu J. Novel compound heterozygous missense variants (c.G955A and c.A1822C) of likely causing autosomal recessive retinitis pigmentosa in a Chinese patient. 3 Biotech. 11: 208. PMID 33927996 DOI: 10.1007/s13205-021-02761-4   
2021 Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes. 12. PMID 33946315 DOI: 10.3390/genes12050675   
2021 Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome. Frontiers in Immunology. 12: 625591. PMID 33868243 DOI: 10.3389/fimmu.2021.625591   
2021 Shin SY, Lee H, Lee ST, Choi JR, Jung CW, Koo HH, Kim SH. Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients. Scientific Reports. 11: 8893. PMID 33903686 DOI: 10.1038/s41598-021-88449-4   
2021 Rivera OD, Mallory MJ, Quesnel-Vallières M, Chatrikhi R, Schultz DC, Carroll M, Barash Y, Cherry S, Lynch KW. Alternative splicing redefines landscape of commonly mutated genes in acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 33876749 DOI: 10.1073/pnas.2014967118   
2021 Wu S, Pan D, Chen W, Ren F, Zheng D, Liu K. Clinical characteristics and gene mutation analysis of clear cell tumor of the lung. Indian Journal of Pathology & Microbiology. 64: 362-368. PMID 33851636 DOI: 10.4103/IJPM.IJPM_65_19   
2021 Stone EJ, Kolb SJ, Brown A. A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L. Cytoskeleton (Hoboken, N.J.). PMID 33993654 DOI: 10.1002/cm.21676   
2021 Rios JJ, Denton K, Russell J, Kozlitina J, Ferreira CR, Lewanda AF, Mayfield JE, Moresco E, Ludwig S, Tang M, Li X, Lyon S, Khanshour A, Paria N, Khalid A, et al. Germline saturation mutagenesis induces skeletal phenotypes in mice. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 33905568 DOI: 10.1002/jbmr.4323   
2021 Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, et al. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biology : Journal of the International Society For Matrix Biology. PMID 34004352 DOI: 10.1016/j.matbio.2021.05.002   
2021 Zimta AA, Hotea I, Brinza M, Blag C, Iluta S, Constantinescu C, Bashimov A, Marchis-Hund EA, Coudsy A, Muller-Mohnssen L, Dirzu N, Gulei D, Dima D, Serban M, Coriu D, et al. The Possible Non-Mutational Causes of FVIII Deficiency: Non-Coding RNAs and Acquired Hemophilia A. Frontiers in Medicine. 8: 654197. PMID 33968959 DOI: 10.3389/fmed.2021.654197   
2021 Monasky MM, Micaglio E, Ciconte G, Rivolta I, Borrelli V, Ghiroldi A, D'Imperio S, Binda A, Melgari D, Benedetti S, Mitrovic P, Anastasia L, Mecarocci V, Ćalović Ž, Casari G, et al. Novel p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths. International Journal of Molecular Sciences. 22. PMID 33946750 DOI: 10.3390/ijms22094700   
2021 Qu LH, Jin X, Zeng C, Zhou NG, Liu YH, Lin Y. Targeted Next-Generation Sequencing Identifies ABCA4 Mutations in Chinese Families with Childhood-Onset and Adult-Onset Stargardt Disease. Bioscience Reports. PMID 33988224 DOI: 10.1042/BSR20203497   
2021 Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, ... , ... , et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics. PMID 33909992 DOI: 10.1016/j.ajhg.2021.04.007   
2021 Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, ... , ... , et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics. PMID 33909992 DOI: 10.1016/j.ajhg.2021.04.007   
2021 Li Q, Sun C, Yang L, Lu W, Luo F. Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome. Translational Pediatrics. 10: 834-842. PMID 34012832 DOI: 10.21037/tp-20-385   
2021 Ai K, Li M, Wu P, Deng C, Huang X, Ling W, Xu R, Geng S, Sun Q, Weng J, Du X. Concurrence of Myelodysplastic syndromes and large granular lymphocyte leukemia: clinicopathological features, mutational profile and gene ontology analysis in a single center. American Journal of Cancer Research. 11: 1616-1631. PMID 33948377   
2021 Chen B, Chen S, Xiong J, Yin F. Cardiofaciocutaneous syndrome with BRAF gene mutation: A case report and literature review. Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences. 46: 432-437. PMID 33967092 DOI: 10.11817/j.issn.1672-7347.2021.190756   
2021 Zhu L, Ouyang W, Zhang M, Wang H, Li S, Meng X, Yin ZQ. Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. Ophthalmic Genetics. 1-10. PMID 33970760 DOI: 10.1080/13816810.2021.1904417   
2021 Miccio A, Antoniou P, Ciura S, Kabashi E. Novel genome-editing-based approaches to treat motor neuron diseases: promises and challenges. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 33823304 DOI: 10.1016/j.ymthe.2021.04.003   
2021 Zou G, Zhang T, Cheng X, Igelman AD, Wang J, Qian X, Fu S, Wang K, Koenekoop RK, Fishman GA, Yang P, Li Y, Pennesi ME, Chen R. Noncoding mutation in contributes to inherited retinal degenerations. Molecular Vision. 27: 95-106. PMID 33907365   
2021 Türay S, Eröz R. White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations. Acta Neurologica Belgica. PMID 33837909 DOI: 10.1007/s13760-021-01671-9   
2021 Adrião A, Santana I, Ribeiro C, Cancela ML, Conceição N, Grazina M. Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. PMID 33999292 DOI: 10.1007/s10072-021-05269-0   
2021 Li R, Gong F, Pan H, Liang H, Miao H, Zhao Y, Duan L, Yang H, Wang L, Chen S, Zhu H. Identification and Functional Verification of Two Novel Mutations of Gene in the Chinese Children with Laron Syndrome. Frontiers in Endocrinology. 12: 605736. PMID 33912130 DOI: 10.3389/fendo.2021.605736   
2021 Luce L, Abelleyro MM, Carcione M, Mazzanti C, Rossetti L, Radic P, Szijan I, Menazzi S, Francipane L, Nevado J, Lapunzina P, De Brasi C, Giliberto F. Analysis of complex structural variants in the DMD gene in one family. Neuromuscular Disorders : Nmd. 31: 253-263. PMID 33451931 DOI: 10.1016/j.nmd.2020.11.015   
2021 Lesage S, Mangone G, Tesson C, Bertrand H, Benmahdjoub M, Kesraoui S, Arezki M, Singleton A, Corvol JC, Brice A. Clinical Variability of -Associated Early-Onset Parkinsonism. Frontiers in Neurology. 12: 648457. PMID 33841314 DOI: 10.3389/fneur.2021.648457   
2021 Petraitytė G, Šiaurytė K, Mikštienė V, Cimbalistienė L, Kriaučiūnienė D, Matulevičienė A, Utkus A, Preikšaitienė E. A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report. Bmc Endocrine Disorders. 21: 71. PMID 33858404 DOI: 10.1186/s12902-021-00741-6   
2021 Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, et al. Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 33960103 DOI: 10.1002/ajmg.c.31915   
2021 Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR, Karczewski KJ, Morales J, Gallone G, Balasubramanian M, Banka S, ... , et al. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics. PMID 34022131 DOI: 10.1016/j.ajhg.2021.04.025   
2021 Tong Y, Luo J, Zhang Y, Hong Z, Cao L, Chen X, Chen J, Bi Q. Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing. Genetic Testing and Molecular Biomarkers. 25: 361-367. PMID 34003695 DOI: 10.1089/gtmb.2020.0317   
2021 Ithal D, Sukumaran SK, Bhattacharjee D, Vemula A, Nadella R, Mahadevan J, Sud R, Viswanath B, Purushottam M, Jain S. Exome hits demystified: The next frontier. Asian Journal of Psychiatry. 59: 102640. PMID 33892377 DOI: 10.1016/j.ajp.2021.102640   
2021 Crane R, Conley SM, Al-Ubaidi MR, Naash MI. Gene Therapy to the Retina and the Cochlea. Frontiers in Neuroscience. 15: 652215. PMID 33815052 DOI: 10.3389/fnins.2021.652215   
2021 Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA, West MJ, Summers KM. Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. American Journal of Medical Genetics. Part A. PMID 33960642 DOI: 10.1002/ajmg.a.62224   
2021 Lu X, Han C, Mai J, Jiang X, Liao J, Hou Y, Cui D. Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients. Frontiers in Genetics. 12: 657040. PMID 33936175 DOI: 10.3389/fgene.2021.657040   
2021 Indrieri A, Franco B. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder. Genes. 12. PMID 33670341 DOI: 10.3390/genes12020263   
2021 Maimaitiming J, Amuti G, TuHuTi A, Chen Y, Song XX, Wang J, Alimu A, Zhang K, Abudounaiyimu M, Jiang J, Wang XL, Guo YY. Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review. Pharmacogenomics and Personalized Medicine. 14: 409-416. PMID 33854360 DOI: 10.2147/PGPM.S297607   
2021 Charif M, Bris C, Goudenège D, Desquiret-Dumas V, Colin E, Ziegler A, Procaccio V, Reynier P, Bonneau D, Lenaers G, Amati-Bonneau P. Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy. Frontiers in Neurology. 12: 602979. PMID 33841295 DOI: 10.3389/fneur.2021.602979   
2021 Miroshnikova VV, Romanova OV, Ivanova ON, Fedyakov MA, Panteleeva AA, Barbitoff YA, Muzalevskaya MV, Urazgildeeva SA, Gurevich VS, Urazov SP, Scherbak SG, Sarana AM, Semenova NA, Anisimova IV, Guseva DM, et al. Identification of novel variants in the gene in Russian patients with familial hypercholesterolemia using targeted sequencing. Biomedical Reports. 14: 15. PMID 33269076 DOI: 10.3892/br.2020.1391   
2021 Niu G, Bak A, Nusselt M, Zhang Y, Pausch H, Flisikowska T, Schnieke AE, Flisikowski K. Allelic Expression Imbalance Analysis Identified Amplification in p53- Dependent Osteosarcoma. Cancers. 13. PMID 33803512 DOI: 10.3390/cancers13061364   
2021 Gogou M, Pavlou E, Kimiskidis V, Kouskouras K, Pavlidou E, Papadopoulos T, Haidopoulou K, Fidani L. Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees. Journal of Pediatric Genetics. 10: 147-151. PMID 33996186 DOI: 10.1055/s-0040-1709695   
2021 Wang L, Li J, Wu G, Kong X. A novel compound heterozygous variant in leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing. The Journal of International Medical Research. 49: 3000605211010644. PMID 33900868 DOI: 10.1177/03000605211010644   
2021 Zhang X, Zhao S, Liu H, Wang X, Wang X, Du N, Liu H, Duan H. Identification of a novel homozygous mutation in gene causing severe fucosidosis: A case report. The Journal of International Medical Research. 49: 3000605211005975. PMID 33906529 DOI: 10.1177/03000605211005975   
2021 Vilaplana F, Ros A, Garcia B, Blanco I, Castellanos E, Edwards NJ, Valldeperas X, Ruiz-Bilbao S, Sabala A. Clinical characteristics, imaging findings, and genetic results of a patient with -related cone-rod dystrophy. Ophthalmic Genetics. 1-6. PMID 33886416 DOI: 10.1080/13816810.2021.1916827   
2021 Rosenthal SH, Gerasimova A, Ma C, Li HR, Grupe A, Chong H, Acab A, Smolgovsky A, Owen R, Elzinga C, Chen R, Sugganth D, Freitas T, Graham J, Champion K, et al. Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms. Plos One. 16: e0243683. PMID 33909614 DOI: 10.1371/journal.pone.0243683   
2021 Gupta N, Kitzler T, Albrecht S, Larouche V. Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the gene. Bmj Case Reports. 14. PMID 33849881 DOI: 10.1136/bcr-2021-241886   
2021 Wang Z, Wang Z, Sun L, Yu X, Pang Z, Liu H, Zhang F. Whole exome sequencing improves mutation detection in Hailey-Hailey disease. The Journal of Dermatology. PMID 33878236 DOI: 10.1111/1346-8138.15828   
2021 Li B, Wang Z, Chen Q, Li K, Wang X, Wang Y, Zeng Q, Han Y, Lu B, Zhao Y, Zhang R, Jiang L, Pan H, Luo T, Zhang Y, et al. GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. Computational and Structural Biotechnology Journal. 19: 1603-1611. PMID 33868597 DOI: 10.1016/j.csbj.2021.03.011   
2021 Limgala RP, Furtak V, Ivanova MM, Changsila E, Wilks F, Fidelia-Lambert MN, Goker-Alpan O, Gondré-Lewis MC. Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. Jimd Reports. 59: 60-68. PMID 33977031 DOI: 10.1002/jmd2.12201   
2021 Singh N, Swaroop A, Ratnapriya R. Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration. Advances in Experimental Medicine and Biology. 1256: 201-219. PMID 33848003 DOI: 10.1007/978-3-030-66014-7_8   
2021 Xie LJ, Ruan DD, Zhang JH, Li Y, Chen L, Yan ML, Yu MD, Luo JW, Zhang HZ. Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype. Canadian Journal of Gastroenterology & Hepatology. 2021: 6610434. PMID 33954154 DOI: 10.1155/2021/6610434   
2021 Gerber S, Orssaud C, Kaplan J, Johansson C, Rozet JM. Mutations Cause Nuclear LHON-like Optic Neuropathy. Genes. 12. PMID 33918393 DOI: 10.3390/genes12040521