Susana Balcells - Related publications

Affiliations: 
 
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 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 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 Tsai MC, Chou YY, Li CY, Wang YC, Yu HW, Chen CH, Chen PC. New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies. Frontiers in Genetics. 12: 594285. PMID 34394176 DOI: 10.3389/fgene.2021.594285   
2021 Çelikeloğlu K, Tekerli M, Erdoğan M, Koçak S, Hacan Ö, Bozkurt Z. An investigation of the effects of , , and genes on litter size in Ramlıç and Dağlıç sheep. Archives Animal Breeding. 64: 223-230. PMID 34159253 DOI: 10.5194/aab-64-223-2021   
2021 Çelikeloğlu K, Tekerli M, Erdoğan M, Koçak S, Hacan Ö, Bozkurt Z. An investigation of the effects of , , and genes on litter size in Ramlıç and Dağlıç sheep. Archives Animal Breeding. 64: 223-230. PMID 34159253 DOI: 10.5194/aab-64-223-2021   
2021 Kang JH, Park JH, Park JS, Lee SK, Lee S, Baik HW. Molecular diagnosis of McArdle disease using whole-exome sequencing. Experimental and Therapeutic Medicine. 22: 1029. PMID 34373715 DOI: 10.3892/etm.2021.10461   
2021 Wang D, Song L, Shen L, Zhang K, Lv Y, Gao M, Ma J, Wan Y, Gai Z, Liu Y. Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature. Frontiers in Pharmacology. 12: 644352. PMID 34335240 DOI: 10.3389/fphar.2021.644352   
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 Guo Y, Liao X, Zou P, Xiao J. Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report. Ame Case Reports. 5: 29. PMID 34312608 DOI: 10.21037/acr-20-151   
2021 Guo Y, Liao X, Zou P, Xiao J. Acute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report. Ame Case Reports. 5: 29. PMID 34312608 DOI: 10.21037/acr-20-151   
2021 Jan A, Saeed M, Afridi MH, Khuda F, Shabbir M, Khan H, Ali S, Hassan M, Samiullah, Akbar R, Zakiullah. Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan. Journal of Diabetes Research. 2021: 6669731. PMID 34258292 DOI: 10.1155/2021/6669731   
2021 Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, et al. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes. 12. PMID 34440302 DOI: 10.3390/genes12081128   
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 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 Chen L, Wang J, Lu W, Xiao Y, Ni J, Wang W, Ma X, Dong Z. Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant. Frontiers in Genetics. 12: 673732. PMID 34276780 DOI: 10.3389/fgene.2021.673732   
2021 Chen L, Wang J, Lu W, Xiao Y, Ni J, Wang W, Ma X, Dong Z. Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant. Frontiers in Genetics. 12: 673732. PMID 34276780 DOI: 10.3389/fgene.2021.673732   
2021 Edgar S, Ellis M, Abdul-Aziz NA, Goh KJ, Shahrizaila N, Kennerson ML, Ahmad-Annuar A. Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS). Neurobiology of Aging. PMID 34404558 DOI: 10.1016/j.neurobiolaging.2021.07.008   
2021 Xu WD, Wu Q, He YW, Huang AF, Lan YY, Fu L, Zhou J, Liu XY. Gene polymorphisms of LGALS2, LGALS3 and LGALS9 in patients with rheumatoid arthritis. Cellular Immunology. 368: 104419. PMID 34371260 DOI: 10.1016/j.cellimm.2021.104419   
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 Petrykey K, Rezgui AM, Guern ML, Beaulieu P, St-Onge P, Drouin S, Bertout L, Wang F, Baedke JL, Yasui Y, Hudson MM, Raboisson MJ, Laverdière C, Sinnett D, Andelfinger GU, et al. Genetic factors in treatment-related cardiovascular complications in survivors of childhood acute lymphoblastic leukemia. Pharmacogenomics. PMID 34505544 DOI: 10.2217/pgs-2021-0067   
2021 Alharazy S, Naseer MI, Alissa E, Robertson MD, Lanham-New S, Alqahtani MH, Chaudhary AG. Association of SNPs in GC and CYP2R1 with total and directly measured free 25-hydroxyvitamin D in multi-ethnic postmenopausal women in Saudi Arabia. Saudi Journal of Biological Sciences. 28: 4626-4632. PMID 34354449 DOI: 10.1016/j.sjbs.2021.04.071   
2021 Boer CG, Hatzikotoulas K, Southam L, Stefánsdóttir L, Zhang Y, Coutinho de Almeida R, Wu TT, Zheng J, Hartley A, Teder-Laving M, Skogholt AH, Terao C, Zengini E, Alexiadis G, Barysenka A, ... , ... , ... , ... , et al. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. Cell. PMID 34450027 DOI: 10.1016/j.cell.2021.07.038   
2021 Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, Solis-Ruiz JM, Borate U, Wilmot B, Tognon CE, Bock AM, Pollyea DA, Radhakrishnan SM, Radhakrishnan S, Patel PA, et al. Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult AML patients. Blood. PMID 34482403 DOI: 10.1182/blood.2021011354   
2021 Sin S, Choi HM, Lim J, Kim J, Bak SH, Choi SS, Park J, Lee JH, Oh YM, Lee MK, Hobbs BD, Cho MH, Silverman EK, Kim WJ. A genome-wide association study of quantitative computed tomographic emphysema in Korean populations. Scientific Reports. 11: 16692. PMID 34404834 DOI: 10.1038/s41598-021-95887-7   
2021 Cui Z, Liu J, Chang Y, Lin D, Luo D, Ou J, Huang L. Interaction analysis of Mycobacterium tuberculosis between the host environment and highly mutated genes from population genetic structure comparison. Medicine. 100: e27125. PMID 34477155 DOI: 10.1097/MD.0000000000027125   
2021 Siddiqui N, Seedat F, Bulbulia S, Mtshali NZ, Botha A, Krause A, Daya R, Bayat Z. SDHB-Associated Paraganglioma Syndrome in Africa-A Need for Greater Genetic Testing. Journal of the Endocrine Society. 5: bvab111. PMID 34377882 DOI: 10.1210/jendso/bvab111   
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 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 Nair V, Sankaranarayanan R, Vasavada AR. Deciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract. Indian Journal of Ophthalmology. 69: 2064-2070. PMID 34304179 DOI: 10.4103/ijo.IJO_3062_20   
2021 Nair V, Sankaranarayanan R, Vasavada AR. Deciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract. Indian Journal of Ophthalmology. 69: 2064-2070. PMID 34304179 DOI: 10.4103/ijo.IJO_3062_20   
2021 Zhong J, You B, Xu K, Zhang X, Xie Y, Li Y. genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism. Ophthalmic Genetics. 1-8. PMID 34346269 DOI: 10.1080/13816810.2021.1958352   
2021 He D, Shang L, Liu Q, Shen D, Sun X, Cai Z, Zhao X, Liu L, Yang X, Liu M, Zhang X, Cui L. Association of apolipoprotein E ε4 allele and amyotrophic lateral sclerosis in Chinese population. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-8. PMID 34279165 DOI: 10.1080/21678421.2021.1953077   
2021 He D, Shang L, Liu Q, Shen D, Sun X, Cai Z, Zhao X, Liu L, Yang X, Liu M, Zhang X, Cui L. Association of apolipoprotein E ε4 allele and amyotrophic lateral sclerosis in Chinese population. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-8. PMID 34279165 DOI: 10.1080/21678421.2021.1953077   
2021 Zhong W, Zhao H, Huang W, Zhang M, Zhang Q, Zhang Y, Chen C, Nueraihemaiti Z, Tuerhong D, Huang H, Maimaitili G, Chen F, Lin J. Identification of rare nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis. Genes & Diseases. 8: 689-697. PMID 34291140 DOI: 10.1016/j.gendis.2019.12.010   
2021 Zhong W, Zhao H, Huang W, Zhang M, Zhang Q, Zhang Y, Chen C, Nueraihemaiti Z, Tuerhong D, Huang H, Maimaitili G, Chen F, Lin J. Identification of rare nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis. Genes & Diseases. 8: 689-697. PMID 34291140 DOI: 10.1016/j.gendis.2019.12.010   
2021 Mathieu H, Spataru A, Aragon-Martin JA, Child A, Barchi S, Fortin C, Parent S, Moldovan F. Prevalence of Coding Variants in French-Canadian and British AIS Cohort. Genes. 12. PMID 34356048 DOI: 10.3390/genes12071032   
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 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 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 Wang X, Xiao H, Yao Y, Xu K, Liu X, Su B, Zhang H, Guan N, Zhong X, Zhang Y, Ding J, Wang F. Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5. Frontiers in Genetics. 12: 697085. PMID 34295353 DOI: 10.3389/fgene.2021.697085   
2021 Gaál Z, Szűcs Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, Felszeghy E, Karádi Z, Madar L, Balogh I. A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life (Basel, Switzerland). 11. PMID 34440516 DOI: 10.3390/life11080771   
2021 Jing Z, Chen Z, Jiang Y. Effects of Gene Mutations on Periodontal Tissues. Global Medical Genetics. 8: 90-94. PMID 34430959 DOI: 10.1055/s-0041-1726416   
2021 Asiri A, Alwadaani D, Umair M, Alhamoudi KM, Almuhanna MH, Nasir A, Alrfaei BM, Al Tuwaijri A, Barhoumi T, Alyafee Y, Almuzzaini B, Aldrees M, Ballow M, Alayyar L, Al Abdulrahman A, et al. Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo Gene Defect: Expanding the Molecular and Phenotypic Spectrum. Genes. 12. PMID 33672558 DOI: 10.3390/genes12020294   
2021 Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M. Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in in a consanguineous Pakistani family with Leber congenital amaurosis. Journal of Genetics. 100. PMID 34470921   
2021 Zhang Y, Wang Y, Zhou W, Zheng S, Ye R. Detection of candidate gene networks involved in resistance to Sclerotinia sclerotiorum in soybean. Journal of Applied Genetics. PMID 34510383 DOI: 10.1007/s13353-021-00654-z   
2021 Oluwafemi OO, Musfee FI, Mitchell LE, Goldmuntz E, Xie HM, Hakonarson H, Morrow BE, Guo T, Taylor DM, McDonald-McGinn DM, Emanuel BS, Agopian AJ. Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States. Genes. 12. PMID 34356046 DOI: 10.3390/genes12071030   
2021 Wang F, Wang F, Zhou X, Yi Y, Zhao J. A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia. Frontiers in Pediatrics. 9: 671536. PMID 34485189 DOI: 10.3389/fped.2021.671536   
2021 Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H, , Wasilewski S, et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature. PMID 34375979 DOI: 10.1038/s41586-021-03855-y   
2021 Xue H, Maksemous N, Sidhom D, Ma L, Chen S, Wu J, Feng Y, M Haupt L, R Griffiths L. Novel compound heterozygous missense mutations in cause Charcot-Marie-Tooth type 4A. Journal of Genetics. 100. PMID 34470922