Qing Ouyang, Ph.D. - Related publications

Affiliations: 
2009- Molecular Biology, Cell Biology and Biochemistry Brown University, Providence, RI 
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Wang XF, Chen H, Huang PJ, Feng ZK, Hua ZQ, Feng X, Han F, Xu XT, Shen RJ, Li Y, Jin ZB, Yu HY. Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus. Frontiers in Cell and Developmental Biology. 9: 627295. PMID 33732697 DOI: 10.3389/fcell.2021.627295   
2021 Gong WY, Liu FN, Yin LH, Zhang J. Novel Mutations of Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review. Biomed Research International. 2021: 6664973. PMID 33748275 DOI: 10.1155/2021/6664973   
2021 Lee H, Kim EN, Lee JY, Kim JH, Oh JH, Kim WK, Cho EJ, Lim J, Chun SM, Sung CO. Characterization of early postzygotic somatic mutations through multi-organ analysis. Journal of Human Genetics. PMID 33611337 DOI: 10.1038/s10038-021-00908-y   
2021 Davies HR, Broad KD, Onadim Z, Price EA, Zou X, Sheriff I, Karaa EK, Scheimberg I, Reddy MA, Sagoo MS, Ohnuma SI, Nik-Zainal S. Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting and Uncovers a Treatment-Related Mutational Signature. Cancers. 13. PMID 33670346 DOI: 10.3390/cancers13040754   
2021 Ye XG, Liu ZG, Wang J, Dai JM, Qiao PX, Gao PM, Liao WP. Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism. Frontiers in Genetics. 12: 632466. PMID 33767733 DOI: 10.3389/fgene.2021.632466   
2021 Vlad CE, Foia LG, Popescu R, Popa I, Aanicai R, Reurean-Pintilei D, Toma V, Florea L, Kanbay M, Covic A. Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania. Journal of Clinical Medicine. 10. PMID 33807407 DOI: 10.3390/jcm10071399   
2021 Zhou K, Wang Y, Bretonnel Cohen K, Kim JD, Ma X, Shen Z, Meng X, Xia J. Bridging heterogeneous mutation data to enhance disease gene discovery. Briefings in Bioinformatics. PMID 33847357 DOI: 10.1093/bib/bbab079   
2021 Antić Ž, Lelieveld SH, van der Ham CG, Sonneveld E, Hoogerbrugge PM, Kuiper RP. Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia. Genes. 12. PMID 33540666 DOI: 10.3390/genes12020214   
2021 Lin PY, Hung JH, Hsu CK, Chang YT, Sun YT. A Novel Pathogenic Mutation in Schwartz-Jampel Syndrome. Frontiers in Neurology. 12: 632336. PMID 33767660 DOI: 10.3389/fneur.2021.632336   
2021 Ben Haj Ali A, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre-Giovannoli A, Delague V, Lévy N, Bogliolo M, Surrallés J, Abdelhak S, Amouri A. Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics. 12: 610050. PMID 33679882 DOI: 10.3389/fgene.2021.610050   
2021 Mathew A, Dirawi M, Abou Tayoun A, Popatia R. A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child. Cureus. 13: e13526. PMID 33786233 DOI: 10.7759/cureus.13526   
2021 Mallik N, Das R, Malhotra P, Sharma P. Congenital Erythrocytosis. European Journal of Haematology. PMID 33840141 DOI: 10.1111/ejh.13632   
2021 Li N, Zhou P, Yang M, Fang X, Krämer N, Mughal TA, Abbasi AA, Yang Y, Kaindl AM, Hu H. Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation. Clinical Genetics. PMID 33834495 DOI: 10.1111/cge.13965   
2021 Kim YJ, Lee Y, Zhang H, Song JS, Hu JC, Simmer JP, Kim JW. A Novel de Novo sp6 Mutation Causes Severe Hypoplastic Ame-Logenesis Imperfecta. Genes. 12. PMID 33652941 DOI: 10.3390/genes12030346   
2021 Jin Park S, Young Kim J, Ahn HJ, Baik HW, Hyung Kang J. Genetic Analysis of the Gitelman Syndrome Coexisting with Osteogenesis Imperfecta. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 33775700 DOI: 10.1016/j.cca.2021.03.018   
2021 Belyeu JR, Brand H, Wang H, Zhao X, Pedersen BS, Feusier J, Gupta M, Nicholas TJ, Brown J, Baird L, Devlin B, Sanders SJ, Jorde LB, Talkowski ME, Quinlan AR. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. American Journal of Human Genetics. PMID 33675682 DOI: 10.1016/j.ajhg.2021.02.012   
2021 Wei C, Zhang Z, Sang M, Dai H, Yang T, Sun M. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia. The Journal of Steroid Biochemistry and Molecular Biology. 105882. PMID 33785438 DOI: 10.1016/j.jsbmb.2021.105882   
2021 Lamb NA, Bard JE, Buck MJ, Surtees JA. A selection-based next generation sequencing approach to develop robust, genotype-specific mutation profiles in Saccharomyces cerevisiae. G3 (Bethesda, Md.). PMID 33784385 DOI: 10.1093/g3journal/jkab099   
2021 He SY, Lin QF, Chen J, Yu GP, Zhang JL, Shen D. Efficacy of afatinib in a patient with rare EGFR (G724S/R776H) mutations and amplification in lung adenocarcinoma: A case report. World Journal of Clinical Cases. 9: 1329-1335. PMID 33644199 DOI: 10.12998/wjcc.v9.i6.1329   
2021 Chen L, Ding L, Chen X, Zhang X. Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene (Cys446Ser) in a family over three generations. Endokrynologia Polska. PMID 33619717 DOI: 10.5603/EP.a2020.0089   
2021 Heimbruch KE, Meyer AE, Agrawal P, Viny AD, Rao S. A cohesive look at leukemogenesis: The cohesin complex and other driving mutations in AML. Neoplasia (New York, N.Y.). 23: 337-347. PMID 33621854 DOI: 10.1016/j.neo.2021.01.003   
2021 Shen R, Zhang Z, Zhuang Y, Yang X, Duan L. A novel mutation with neurodevelopmental disorder caused by malformations of cortical development. Biomed Research International. 2021: 6644274. PMID 33728335 DOI: 10.1155/2021/6644274   
2021 Zheng S, Wang X, Fu Y, Li B, Xu J, Wang H, Huang Z, Xu H, Qiu Y, Shi Y, Li K. Targeted next-generation sequencing for cancer-associated gene mutation and copy number detection in 206 patients with non-small-cell lung cancer. Bioengineered. 12: 791-802. PMID 33629637 DOI: 10.1080/21655979.2021.1890382   
2021 Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, Keselman A, Bergadá I, Olivieri F, Miranda L, Marino R, Ramírez P, Pérez GN, Patiño Mejia H, Ciaccio M, Di Palma MI, et al. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders. The Journal of Clinical Endocrinology and Metabolism. PMID 33729509 DOI: 10.1210/clinem/dgab177   
2021 Takaichi Y, Chambers JK, Shiroma-Kohyama M, Haritani M, Une Y, Yamato O, Nakayama H, Uchida K. Feline Spongy Encephalopathy With a Mutation in the Gene. Veterinary Pathology. 3009858211002176. PMID 33779415 DOI: 10.1177/03009858211002176   
2021 O'Connor A, Abel E, Fraser MR, Ryan NS, Jiménez DA, Koriath C, Chávez-Gutiérrez L, Ansorge O, Mummery CJ, Lashley T, Rossor MN, Polke JM, Mead S, Fox NC. A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features. Neurobiology of Aging. PMID 33648786 DOI: 10.1016/j.neurobiolaging.2021.01.032   
2021 Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, et al. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain : a Journal of Neurology. PMID 33792664 DOI: 10.1093/brain/awab133   
2021 Zhu H, Liu H, Liu J. Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family: A case report. Medicine. 100: e25160. PMID 33761690 DOI: 10.1097/MD.0000000000025160   
2021 Muñoz-Jiménez MT, Blanco L, Ruano Y, Carrillo R, Santos-Briz Á, Riveiro-Falkenbach E, Requena L, Kutzner H, Garrido MC, Rodríguez-Peralto JL. TERT promoter mutation in sebaceous neoplasms. Virchows Archiv : An International Journal of Pathology. PMID 33768319 DOI: 10.1007/s00428-021-03083-9   
2021 Kim YJ, Jung SH, Hur EH, Choi EJ, Lee KH, Park HC, Kim HJ, Kwon YR, Park S, Lee SH, Chung YJ, Lee JH. Clinical implications of copy number alteration detection using panel-based next-generation sequencing data in myelodysplastic syndrome. Leukemia Research. 103: 106540. PMID 33667811 DOI: 10.1016/j.leukres.2021.106540   
2021 Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F. Functional and Structural Characterization of ClC-1 and Na1.4 Channels Resulting from and Mutations Identified Alone and Coexisting in Myotonic Patients. Cells. 10. PMID 33670307 DOI: 10.3390/cells10020374   
2021 Lee B, Lee H, Cho J, Yoon SE, Kim SJ, Park WY, Kim WS, Ko YH. Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma. Frontiers in Oncology. 11: 628807. PMID 33777778 DOI: 10.3389/fonc.2021.628807   
2021 Gorelick AN, Kim M, Chatila WK, La K, Hakimi AA, Berger MF, Taylor BS, Gammage PA, Reznik E. Respiratory complex and tissue lineage drive recurrent mutations in tumour mtDNA. Nature Metabolism. PMID 33833465 DOI: 10.1038/s42255-021-00378-8   
2021 Odiatis C, Savva I, Pieri M, Ioannou P, Petrou P, Papagregoriou G, Antoniadou K, Makrides N, Stefanou C, Ljubanović DG, Nikolaou G, Borza DB, Stylianou K, Gross O, Deltas C. A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome. Matrix Biology Plus. 9: 100053. PMID 33718859 DOI: 10.1016/j.mbplus.2020.100053   
2021 Shen S, Shao M, Keyal U, Wang X, Li M, Zhang G. Identification of two novel mutations in the gene in Chinese patients with hereditary leukonychia. Molecular Medicine Reports. 23. PMID 33786625 DOI: 10.3892/mmr.2021.12052   
2021 Ma L, Prada AM, Schmidt M, Morrow EM. Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease. Stem Cell Research. 53: 102323. PMID 33845243 DOI: 10.1016/j.scr.2021.102323   
2021 Zhang CX, Zhang JX, Yang L, Zhang CR, Cheng F, Zhang RJ, Fang Y, Wang Z, Wu FY, Li PZ, Liang J, Li R, Song HD. Novel Compound Heterozygous Pathogenic Mutations of in a Chinese Patient With Congenital Hypothyroidism. Frontiers in Endocrinology. 12: 620117. PMID 33815280 DOI: 10.3389/fendo.2021.620117   
2021 Glover KKM, Sutherland DM, Dermody TS, Coombs KM. A Single Point Mutation, Asn→Lys, Dictates the Temperature-Sensitivity of the Reovirus tsG453 Mutant. Viruses. 13. PMID 33673179 DOI: 10.3390/v13020289   
2021 Zheng Y, Xu J, Wang F, Tang Y, Wei Z, Ji Z, Wang C, Zhao K. Mutation Types of CYP71P1 Cause Different Phenotypes of Mosaic Spot Lesion and Premature Leaf Senescence in Rice. Frontiers in Plant Science. 12: 641300. PMID 33833770 DOI: 10.3389/fpls.2021.641300   
2021 Ross C, Sharma M, Paul J, Srivastava S. Microarray analysis reveals distinct immune signatures in positive and negative myeloproliferative neoplasms. Indian Journal of Cancer. PMID 33753595 DOI: 10.4103/ijc.IJC_21_20   
2021 Cook JH, Melloni GEM, Gulhan DC, Park PJ, Haigis KM. The origins and genetic interactions of KRAS mutations are allele- and tissue-specific. Nature Communications. 12: 1808. PMID 33753749 DOI: 10.1038/s41467-021-22125-z   
2021 Maino E, Wojtal D, Evagelou SL, Farheen A, Wong TWY, Lindsay K, Scott O, Rizvi SZ, Hyatt E, Rok M, Visuvanathan S, Chiodo A, Schneeweiss M, Ivakine EA, Cohn RD. Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression. Embo Molecular Medicine. e13228. PMID 33724658 DOI: 10.15252/emmm.202013228   
2021 Fattal-Valevski A, Ben Sira L, Lerman-Sagie T, Strausberg R, Bloch-Mimouni A, Edvardson S, Kaufman R, Chernuha V, Schneebaum Sender N, Heimer G, Ben Zeev B. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 32: 40-45. PMID 33756211 DOI: 10.1016/j.ejpn.2020.08.011   
2021 Jang W, Kim SK, Nahm CH, Choi JW, Kim JJ, Moon Y. A Novel Mutation in Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis. Annals of Clinical and Laboratory Science. 51: 136-139. PMID 33653793   
2021 Peretz-Machluf R, Rabinowitz T, Shomron N. Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations. Methods in Molecular Biology (Clifton, N.J.). 2243: 249-269. PMID 33606261 DOI: 10.1007/978-1-0716-1103-6_12   
2021 Pan J, Williams E, Sung W, Lynch M, Long H. The insect-killing bacterium has the lowest mutation rate among bacteria. Marine Life Science & Technology. 3: 20-27. PMID 33791681 DOI: 10.1007/s42995-020-00060-0   
2021 Zhao J, Hou M, Wang H, Liu Q, Sun D, Wei W. Microcephaly, disproportionate pontine and cerebellar hypoplasia syndrome: two novel mutations in the CASK gene were discovered in Chinese females. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. PMID 33629417 DOI: 10.1002/jdn.10100   
2021 Vaughn JN, Korani W, Stein JC, Edwards JD, Peterson DG, Simpson SA, Youngblood RC, Grimwood J, Chougule K, Ware DH, McClung AM, Scheffler BE. Gene disruption by structural mutations drives selection in US rice breeding over the last century. Plos Genetics. 17: e1009389. PMID 33735256 DOI: 10.1371/journal.pgen.1009389   
2021 Zhan X, Zhao A, Wu B, Yang Y, Wan L, Tan P, Huang J, Lu Y. A novel compound heterozygous mutation of gene in a patient with bone marrow failure syndrome 4. British Journal of Biomedical Science. PMID 33618624 DOI: 10.1080/09674845.2021.1894706   
2021 Tokatly Latzer I, Sagi L, Bali DS, Rehder C, Orbach R, Fattal-Valevski A. Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene. Neuropediatrics. PMID 33578445 DOI: 10.1055/s-0040-1722680