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Robert F. Clark, Ph.D. - Related publications

Affiliations: 
2014- Discovery Sciences RTI International 
Area:
Genetics
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 Zhan L, Li J, Jew B, Sul JH. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. Plos Genetics. 17: e1009772. PMID 34516545 DOI: 10.1371/journal.pgen.1009772   
2021 Demidov G, Park J, Armeanu-Ebinger S, Roggia C, Faust U, Cordts I, Blandfort M, Haack TB, Schroeder C, Ossowski S. Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. Molecular Genetics & Genomic Medicine. e1807. PMID 34491624 DOI: 10.1002/mgg3.1807   
2021 Zhang S, Lei C, Wu J, Xiao M, Zhou J, Zhu S, Fu J, Lu D, Sun X, Xu C. A comprehensive and universal approach for embryo testing in patients with different genetic disorders. Clinical and Translational Medicine. 11: e490. PMID 34323405 DOI: 10.1002/ctm2.490   
2021 Zhang S, Lei C, Wu J, Xiao M, Zhou J, Zhu S, Fu J, Lu D, Sun X, Xu C. A comprehensive and universal approach for embryo testing in patients with different genetic disorders. Clinical and Translational Medicine. 11: e490. PMID 34323405 DOI: 10.1002/ctm2.490   
2021 Wilson MA. The Y chromosome and its impact on health and disease. Human Molecular Genetics. PMID 34328177 DOI: 10.1093/hmg/ddab215   
2021 Sauteraud R, Stahl JM, James J, Englebright M, Chen F, Zhan X, Carrel L, Liu DJ. Inferring genes that escape X-Chromosome inactivation reveals important contribution of variable escape genes to sex-biased diseases. Genome Research. PMID 34426515 DOI: 10.1101/gr.275677.121   
2021 Ou YN, Yang YX, Deng YT, Zhang C, Hu H, Wu BS, Liu Y, Wang YJ, Zhu Y, Suckling J, Tan L, Yu JT. Identification of novel drug targets for Alzheimer's disease by integrating genetics and proteomes from brain and blood. Molecular Psychiatry. PMID 34381170 DOI: 10.1038/s41380-021-01251-6   
2021 Chung Y, Lee H, . Correlation between Alzheimer's disease and type 2 diabetes using non-negative matrix factorization. Scientific Reports. 11: 15265. PMID 34315930 DOI: 10.1038/s41598-021-94048-0   
2021 Feliciano CM, Wu K, Watry HL, Marley CBE, Ramadoss GN, Ghanim HY, Liu AZ, Zholudeva LV, McDevitt TC, Saporta MA, Conklin BR, Judge LM. Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E. Frontiers in Cell and Developmental Biology. 9: 723023. PMID 34485306 DOI: 10.3389/fcell.2021.723023   
2021 Lalami I, Abo C, Borghese B, Chapron C, Vaiman D. Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing. International Journal of Molecular Sciences. 22. PMID 34298916 DOI: 10.3390/ijms22147297   
2021 Kopp J, Has C, Hotz A, Grünert SC, Fischer J. Maternal Isodisomy of Chromosome 3 Combined with a Mutation in the Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome. Genes. 12. PMID 34440338 DOI: 10.3390/genes12081164   
2021 Jiang X, Chen M, Song W, Lin GN. Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data. Bmc Medical Genomics. 14: 141. PMID 34465339 DOI: 10.1186/s12920-021-00985-0   
2021 Wu X, Peng C, Nelson PT, Cheng Q. Random forest-integrated analysis in AD and LATE brain transcriptome-wide data to identify disease-specific gene expression. Plos One. 16: e0256648. PMID 34492068 DOI: 10.1371/journal.pone.0256648   
2021 Zhao G, Luo C, Luo J, Li J, Gong H, Zheng X, Liu X, Guo J, Zhou L, Wu H. A mutation in LacDWARF1 results in a GA-deficient dwarf phenotype in sponge gourd (Luffa acutangula). Tag. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik. PMID 34390352 DOI: 10.1007/s00122-021-03938-4   
2021 Slater EP, Wilke LM, Böhm LB, Strauch K, Lutz M, Gercke N, Matthäi E, Hemminki K, Försti A, Schlesner M, Paramasivam N, Bartsch DK. Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of Personalized Medicine. 11. PMID 34357098 DOI: 10.3390/jpm11070631   
2021 Song F, Owczarek-Lipska M, Ahmels T, Book M, Aisenbrey S, Menghini M, Barthelmes D, Schrader S, Spital G, Neidhardt J. High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Genes. 12. PMID 34440443 DOI: 10.3390/genes12081269   
2021 Li X, Zhao S, Bi X, Lou F, Zeng W, Gao Y, Mao Z, Ma J. [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in gene]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 35: 621-626. PMID 34304492 DOI: 10.13201/j.issn.2096-7993.2021.07.010   
2021 Li X, Zhao S, Bi X, Lou F, Zeng W, Gao Y, Mao Z, Ma J. [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in gene]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 35: 621-626. PMID 34304492 DOI: 10.13201/j.issn.2096-7993.2021.07.010   
2021 Sun Y, Zhu J, Zhou D, Canchi S, Wu C, Cox NJ, Rissman RA, Gamazon ER, Wu L. A transcriptome-wide association study of Alzheimer's disease using prediction models of relevant tissues identifies novel candidate susceptibility genes. Genome Medicine. 13: 141. PMID 34470669 DOI: 10.1186/s13073-021-00959-y   
2021 Sarkadi B, Liko I, Nyiro G, Igaz P, Butz H, Patocs A. Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma. Cancers. 13. PMID 34439371 DOI: 10.3390/cancers13164219   
2021 Qin S, Wang X, Li Y. A novel pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293. Clinical Case Reports. 9: e04706. PMID 34466259 DOI: 10.1002/ccr3.4706   
2021 Kera J, Watal P, Ali SA. Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome. Cureus. 13: e16395. PMID 34408948 DOI: 10.7759/cureus.16395   
2021 Hasan MA, Hakim FT, Islam Shovon MT, Islam MM, Islam MS, Islam MA. The investigation of nonsynonymous SNPs of human gene associated with depression: An approach. Heliyon. 7: e07815. PMID 34466701 DOI: 10.1016/j.heliyon.2021.e07815   
2021 Cai S, Zhang D, Jiao X, Wang T, Fan M, Wang Y, Hejtmancik JF, Liu X. Novel compound heterozygous mutations in identified in a Chinese family with developmental glaucoma. Molecular Medicine Reports. 24. PMID 34528698 DOI: 10.3892/mmr.2021.12443   
2021 Al-Khuzaei S, Broadgate S, Foster CR, Shah M, Yu J, Downes SM, Halford S. An Overview of the Genetics of Retinopathies, an Evolving Story. Genes. 12. PMID 34440414 DOI: 10.3390/genes12081241   
2021 Jiao B, Liu H, Guo L, Xiao X, Liao X, Zhou Y, Weng L, Zhou L, Wang X, Jiang Y, Yang Q, Zhu Y, Zhou L, Zhang W, Wang J, et al. The role of genetics in neurodegenerative dementia: a large cohort study in South China. Npj Genomic Medicine. 6: 69. PMID 34389718 DOI: 10.1038/s41525-021-00235-3   
2021 Li L, Yang Y, Zhang Q, Wang J, Jiang J, Neuroimaging Initiative AD. Use of Deep-Learning Genomics to Discriminate Healthy Individuals from Those with Alzheimer's Disease or Mild Cognitive Impairment. Behavioural Neurology. 2021: 3359103. PMID 34336000 DOI: 10.1155/2021/3359103   
2021 Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Trigenic // mutations in myelodysplasia with Usher syndrome. Heliyon. 7: e07804. PMID 34458631 DOI: 10.1016/j.heliyon.2021.e07804   
2021 Soler-Garzón A, McClean PE, Miklas PN. Genome-Wide Association Mapping of and Reveals Candidate Genes and New Adjustments to the Host-Pathogen Interaction for Resistance to in Common Bean. Frontiers in Plant Science. 12: 699569. PMID 34267774 DOI: 10.3389/fpls.2021.699569   
2021 Arendt M, Ambrosen A, Fall T, Kierczak M, Tengvall K, Meadows JRS, Karlsson Å, Lagerstedt AS, Bergström T, Andersson G, Lindblad-Toh K, Hagman R. The ABCC4 gene is associated with pyometra in golden retriever dogs. Scientific Reports. 11: 16647. PMID 34404837 DOI: 10.1038/s41598-021-95936-1   
2021 Oikemus SR, Pfister E, Sapp E, Chase KO, Kennington LA, Hudgens E, Miller R, Zhu LJ, Chaudhary A, Mick EO, Sena-Esteves M, Wolfe SA, DiFiglia M, Aronin N, Brodsky MH. Allele-specific knockdown of mutant HTT protein via editing at coding region SNP heterozygosities. Human Gene Therapy. PMID 34376056 DOI: 10.1089/hum.2020.323   
2021 Guan Y, Liang X, Ma Z, Hu H, Liu H, Miao Z, Linkermann A, Hellwege JN, Voight BF, Susztak K. A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis. Nature Communications. 12: 5078. PMID 34426578 DOI: 10.1038/s41467-021-25377-x   
2021 Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B. Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. Plos One. 16: e0253987. PMID 34242285 DOI: 10.1371/journal.pone.0253987   
2021 Bai D, Wang J, Li T, Chan R, Atalla M, Chen RC, Khazaneh MT, An RJ, Stathopulos PB. Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants. International Journal of Molecular Sciences. 22. PMID 34360596 DOI: 10.3390/ijms22157832   
2021 Chakravarti A. Magnitude of Mendelian versus complex inheritance of rare disorders. American Journal of Medical Genetics. Part A. PMID 34418293 DOI: 10.1002/ajmg.a.62463   
2021 Lopez-Martín S, Albert J, Peña Vila-Belda MDM, Liu X, Zhang ZC, Han J, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Álvarez S, Fernández-Jaén A. A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited missense mutation. Applied Neuropsychology. Child. 1-7. PMID 34470565 DOI: 10.1080/21622965.2021.1970551   
2021 Ferese R, Campopiano R, Scala S, D'Alessio C, Storto M, Buttari F, Centonze D, Logroscino G, Zecca C, Zampatti S, Fornai F, Cianci V, Manfroi E, Giardina E, Magnani M, et al. Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in Genetics. 12: 682050. PMID 34354735 DOI: 10.3389/fgene.2021.682050   
2021 Fifita JA, Chan Moi Fat S, McCann EP, Williams KL, Twine NA, Bauer DC, Rowe DB, Pamphlett R, Kiernan MC, Tan VX, Blair IP, Guillemin GJ. Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis. Frontiers in Immunology. 12: 701550. PMID 34194442 DOI: 10.3389/fimmu.2021.701550   
2021 Sun Y, Zhou D, Rahman MR, Zhu J, Ghoneim D, Cox NJ, Beach TG, Wu C, Gamazon ER, Wu L. A transcriptome-wide association study identifies novel blood-based gene biomarker candidates for Alzheimer's disease risk. Human Molecular Genetics. PMID 34387340 DOI: 10.1093/hmg/ddab229   
2021 Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams S, Keavney BD, Thiruvahindrapuram B, Scherer SW, et al. Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circulation. Genomic and Precision Medicine. PMID 34328347 DOI: 10.1161/CIRCGEN.121.003410   
2021 Caldu-Primo JL, Verduzco-Martínez JA, Alvarez-Buylla ER, Davila-Velderrain J. and human gene essentiality estimations capture contrasting functional constraints. Nar Genomics and Bioinformatics. 3: lqab063. PMID 34268495 DOI: 10.1093/nargab/lqab063   
2021 Wei K, Kong W, Wang S. Integration of Imaging Genomics Data for the Study of Alzheimer's Disease Using Joint-Connectivity-Based Sparse Nonnegative Matrix Factorization. Journal of Molecular Neuroscience : Mn. PMID 34410569 DOI: 10.1007/s12031-021-01888-6   
2021 Biondo ED, Spontarelli K, Ababioh G, Mendez L, Artigas P. Diseases caused by mutations in the Na/K pump α1 gene ATP1A1. American Journal of Physiology. Cell Physiology. PMID 34232746 DOI: 10.1152/ajpcell.00059.2021   
2021 Roco ÁS, Ruiz-García A, Bullejos M. Interaction between sex-determining genes from two species: clues from hybrids. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 376: 20200104. PMID 34304589 DOI: 10.1098/rstb.2020.0104   
2021 Al Alawi I, Al Riyami M, Barroso-Gil M, Powell L, Olinger E, Al Salmi I, Sayer JA. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000research. 10: 207. PMID 34354814 DOI: 10.12688/f1000research.40338.2   
2021 Müller U. Spinocerebellar ataxias (SCAs) caused by common mutations. Neurogenetics. PMID 34401960 DOI: 10.1007/s10048-021-00662-5   
2021 Heidary H, Mardi A, Mousavi SM, Khazaie G, Golab F. Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report. Iranian Journal of Public Health. 50: 1275-1279. PMID 34540749 DOI: 10.18502/ijph.v50i6.6429   
2021 Fang H, Deng X, Disteche CM. X-factors in human disease: Impact of gene content and dosage regulation. Human Molecular Genetics. PMID 34387327 DOI: 10.1093/hmg/ddab221   
2021 Adhikari K, Son JH, Rensink AH, Jaweria J, Bopp D, Beukeboom LW, Meisel RP. Temperature-dependent effects of house fly proto-Y chromosomes on gene expression could be responsible for fitness differences that maintain polygenic sex determination. Molecular Ecology. PMID 34449942 DOI: 10.1111/mec.16148   
2021 Nishi MY, Faria Júnior JAD, Krepischi ACV, de Moraes DR, da Costa SS, Silva ESDN, Costa EMF, Mendonca BB, Domenice S. A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. 1-9. PMID 34510040 DOI: 10.1159/000517085