Stephanie L. Bielas, Ph.D. - Related publications

2007 Biology University of California, San Diego, La Jolla, CA 
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Li J, Peng Z, Luo F, Chen Y. SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome. Frontiers in Genetics. 11: 794. PMID 32849799 DOI: 10.3389/fgene.2020.00794   
2020 Heshmatzad K, Mahdieh N, Rabbani A, Didban A, Rabbani B. The Genetic Perspective of Familial Glucocorticoid Deficiency: Analysis of Two Novel Variants. International Journal of Endocrinology. 2020: 2190508. PMID 32952553 DOI: 10.1155/2020/2190508   
2020 Li ZY, Zhang LP, Li B, Zhang P, Wang MN, Wang GQ, Zhang WH. [Hereditary protein S deficiency: survey results from a Chinese pedigree]. Zhonghua Xin Xue Guan Bing Za Zhi. 48: 831-836. PMID 33076619 DOI: 10.3760/cma.j.cn112148-20200816-00647   
2020 Legendre M, Butt A, Borie R, Debray MP, Bouvry D, Filhol-Blin E, Desroziers T, Nau V, Copin B, Dastot-Le Moal F, Héry M, Duquesnoy P, Allou N, Bergeron A, Bermudez J, et al. Functional assessment and phenotypic heterogeneity of and mutations in interstitial lung diseases and lung cancer. The European Respiratory Journal. PMID 32855221 DOI: 10.1183/13993003.02806-2020   
2020 Bernard E, Pegat A, Svahn J, Bouhour F, Leblanc P, Millecamps S, Thobois S, Guissart C, Lumbroso S, Mouzat K. Clinical and Molecular Landscape of ALS Patients with Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study. International Journal of Molecular Sciences. 21. PMID 32948071 DOI: 10.3390/ijms21186807   
2020 Liu X, Duan X, Zhang Y, Sun A, Fan D. Cross-Sectional Study in a Large Cohort of Chinese Patients With Gene Mutations. Frontiers in Neurology. 11: 690. PMID 32903794 DOI: 10.3389/fneur.2020.00690   
2020 Link N, Bellen HJ. Using to drive the diagnosis and understand the mechanisms of rare human diseases. Development (Cambridge, England). 147. PMID 32988995 DOI: 10.1242/dev.191411   
2020 Chen X, Deng S, Xia H, Yuan L, Xu H, Tang S, Deng H. Identification of a variant in a Han-Chinese patient with situs inversus. Experimental and Therapeutic Medicine. 20: 3336-3342. PMID 32855706 DOI: 10.3892/etm.2020.9059   
2020 Su C, Wang F. Clinical and molecular findings in a family expressing a novel heterozygous variant of the G elongation factor mitochondrial 1 gene. Experimental and Therapeutic Medicine. 20: 173. PMID 33093908 DOI: 10.3892/etm.2020.9303   
2020 Völkel G, Laban S, Fürstberger A, Kühlwein SD, Ikonomi N, Hoffman TK, Brunner C, Neuberg DS, Gaidzik V, Döhner H, Kraus JM, Kestler HA. Analysis, identification and visualization of subgroups in genomics. Briefings in Bioinformatics. PMID 32954413 DOI: 10.1093/bib/bbaa217   
2020 Trueb B, Zhuang L, Villiger PM. A Novel Mutation in the Gene Identified in a Family with Asthma Patients. Genetic Testing and Molecular Biomarkers. PMID 32907400 DOI: 10.1089/gtmb.2020.0081   
2020 Kubota D, Matsumoto K, Hayashi M, Oishi N, Gocho K, Yamaki K, Kobayakawa S, Igarashi T, Takahashi H, Kameya S. High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by mutation. Ophthalmic Genetics. 1-10. PMID 32814480 DOI: 10.1080/13816810.2020.1810284   
2020 Ferreira MJ, Pedro J, Salazar D, Costa C, Aragão Rodrigues J, Costa MM, Grangeia A, Castedo JL, Carvalho D. ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report. Case Reports in Endocrinology. 2020: 8848151. PMID 32934851 DOI: 10.1155/2020/8848151   
2020 Ferreira MJ, Pedro J, Salazar D, Costa C, Aragão Rodrigues J, Costa MM, Grangeia A, Castedo JL, Carvalho D. ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report. Case Reports in Endocrinology. 2020: 8848151. PMID 32934851 DOI: 10.1155/2020/8848151   
2020 Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M. Practical guide to genetic screening for inherited eye diseases. Therapeutic Advances in Ophthalmology. 12: 2515841420954592. PMID 33015543 DOI: 10.1177/2515841420954592   
2020 Zhou Q, Li Z, Song L, Mu D, Wang J, Tian L, Liao Y. Whole-exome mutational landscape of metastasis in patient-derived hepatocellular carcinoma cells. Genes & Diseases. 7: 380-391. PMID 32884992 DOI: 10.1016/j.gendis.2020.05.003   
2020 Kim B, Yun W, Lee ST, Choi JR, Yoo KH, Koo HH, Jung CW, Kim SH. Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia. Scientific Reports. 10: 14297. PMID 32868804 DOI: 10.1038/s41598-020-71386-z   
2020 Oh SH, Keum C, Her M, Chung WY, Kim YH, Kim T. A Novel Missense Mutation (L44V) of Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features. Annals of Clinical and Laboratory Science. 50: 687-690. PMID 33067217   
2020 Hollis RL, Thomson JP, Stanley B, Churchman M, Meynert AM, Rye T, Bartos C, Iida Y, Croy I, Mackean M, Nussey F, Okamoto A, Semple CA, Gourley C, Herrington CS. Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome. Nature Communications. 11: 4995. PMID 33020491 DOI: 10.1038/s41467-020-18819-5   
2020 Papadimas GK, Vargiami E, Dragoumi P, Van Coster R, Smet J, Seneca S, Papadopoulos C, Kararizou E, Zafeiriou D. Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in gene. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology. 39: 94-97. PMID 32904881 DOI: 10.36185/2532-1900-012   
2020 Díaz-Santiago E, Jabato FM, Rojano E, Seoane P, Pazos F, Perkins JR, Ranea JAG. Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases. Plos Genetics. 16: e1009054. PMID 33001999 DOI: 10.1371/journal.pgen.1009054   
2020 Cai YQ, Zhang H, Wang XZ, Xu C, Chao YQ, Shu Y, Tang LF. A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review. Open Forum Infectious Diseases. 7: ofaa314. PMID 32875002 DOI: 10.1093/ofid/ofaa314   
2020 Tang YA, Wang LY, Chang CM, Lee IW, Tsai WH, Sun HS. Novel Compound Heterozygous Mutations in Cause Rare Autosomal Recessive Osteogenesis Imperfecta. Frontiers in Genetics. 11: 897. PMID 32922437 DOI: 10.3389/fgene.2020.00897   
2020 Mishima Y, Mishima Y, Shirouchi Y, Nishimura N, Yokoyama M, Okabe T, Inoue N, Uryu H, Fukuta T, Hatake K, Terui Y. The clonal evolution during long-term clinical course of multiple myeloma. International Journal of Hematology. PMID 32864713 DOI: 10.1007/s12185-020-02979-7   
2020 Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics. PMID 32989326 DOI: 10.1038/s41588-020-0695-1   
2020 Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, ... , et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature. PMID 33057194 DOI: 10.1038/s41586-020-2832-5   
2020 Wang RQ, Chen CJ, Jing Y, Qin JY, Li Y, Chen GF, Zhou W, Li YH, Wang J, Li DW, Zhao HM, Wang BH, Wang LL, Wang H, Wang MZ, et al. Characteristics and prognostic significance of genetic mutations in acute myeloid leukemia based on a targeted next-generation sequencing technique. Cancer Medicine. PMID 32970934 DOI: 10.1002/cam4.3467   
2020 Besnard F, Picao-Osorio J, Dubois C, Félix MA. A broad mutational target explains a fast rate of phenotypic evolution. Elife. 9. PMID 32851977 DOI: 10.7554/eLife.54928   
2020 Li X, Lehner B. Biophysical ambiguities prevent accurate genetic prediction. Nature Communications. 11: 4923. PMID 33004824 DOI: 10.1038/s41467-020-18694-0   
2020 Deshpande O, Lara RZ, Zhang OR, Concepcion D, Hamilton BA. ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities. Plos Genetics. 16: e1009017. PMID 32925911 DOI: 10.1371/journal.pgen.1009017   
2020 Lu H, Chen Y, Kong Y, Liu X, Li N, Zhang S, Xu H. Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation. Genomics. PMID 32937162 DOI: 10.1016/j.ygeno.2020.09.013   
2020 Vanni I, Tanda ET, Dalmasso B, Pastorino L, Andreotti V, Bruno W, Boutros A, Spagnolo F, Ghiorzo P. Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications. Frontiers in Molecular Biosciences. 7: 172. PMID 32850962 DOI: 10.3389/fmolb.2020.00172   
2020 Lou G, Ke Y, Zhang Y, Liangjie G, Shama SA, Qi N, Qin L, Liao S, Zhao Y. Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. Journal of Molecular Neuroscience : Mn. PMID 33025479 DOI: 10.1007/s12031-020-01713-6   
2020 Giardino G, Borzacchiello C, De Luca M, Romano R, Prencipe R, Cirillo E, Pignata C. T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features. Frontiers in Immunology. 11: 1837. PMID 32922396 DOI: 10.3389/fimmu.2020.01837   
2020 Yang Z, Qi X, Gross N, Kou X, Bai Y, Feng Y, Wang B, Zafereo ME, Li G, Sun C, Li H, Chen X, Huang Z. The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A. Journal of Cellular and Molecular Medicine. PMID 32989896 DOI: 10.1111/jcmm.15922   
2020 Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine. PMID 33077954 DOI: 10.1038/s41591-020-1090-2   
2020 Guo X, Wang H, Xiang Y, Ren X, Jiang S. A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency. Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology. 1-4. PMID 32945709 DOI: 10.1080/09513590.2020.1822799   
2020 Sahu PK, Sao R, Mondal S, Vishwakarma G, Gupta SK, Kumar V, Singh S, Sharma D, Das BK. Next Generation Sequencing Based Forward Genetic Approaches for Identification and Mapping of Causal Mutations in Crop Plants: A Comprehensive Review. Plants (Basel, Switzerland). 9. PMID 33066352 DOI: 10.3390/plants9101355   
2020 Yoo S, Kim YA, Yoon JY, Seo GH, Keum C, Cheon CK. The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation. Brain & Development. PMID 32948376 DOI: 10.1016/j.braindev.2020.08.016   
2020 Xiong QF, Zhou H, Yang YF. p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II. Jgh Open : An Open Access Journal of Gastroenterology and Hepatology. 4: 1009-1011. PMID 33102778 DOI: 10.1002/jgh3.12355   
2020 Almazni I, Stapley RJ, Khan AO, Morgan NV, . A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants. Human Mutation. PMID 32935436 DOI: 10.1002/humu.24114   
2020 Kawamoto Y, Toda H, Inoue H, Kobayashi K, Yamaoka N, Araki T, Yaeno T. Fast and Inexpensive Phenotyping and Genotyping Methods for Evaluation of Barley Mutant Population. Plants (Basel, Switzerland). 9. PMID 32899989 DOI: 10.3390/plants9091153   
2020 Lee J, Lee C, Park WY, Lee J. Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing. Annals of Clinical and Laboratory Science. 50: 625-637. PMID 33067208   
2020 Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y. A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. Molecular Genetics and Genomics : Mgg. PMID 32944789 DOI: 10.1007/s00438-020-01726-1   
2020 Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay G. Is gene panel more efficient than clinical based gene sequencing to diagnose autoinflammatory diseases? A randomized study. Clinical and Experimental Immunology. PMID 32909274 DOI: 10.1111/cei.13511   
2020 Li Y, Gao S, Han Y, Song L, Kong Y, Jiao Y, Huang S, Du J, Li Y. Variants of Focal Adhesion Scaffold Genes Cause Thoracic Aortic Aneurysm. Circulation Research. PMID 33092471 DOI: 10.1161/CIRCRESAHA.120.317361   
2020 Zhou C, Xiao Y, Xie H, Liu S, Wang J. A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review. Molecular Medicine Reports. PMID 32945434 DOI: 10.3892/mmr.2020.11398   
2020 Fu AX, Lui KN, Tang CS, Ng RK, Lai FP, Lau ST, Li Z, Gracia-Barcelo MM, Sham P, Tam PK, Ngan ES, Yip KY. Whole-genome analysis of noncoding genetic variations identifies multi-scale regulatory element perturbations associated with Hirschsprung disease. Genome Research. PMID 32948616 DOI: 10.1101/gr.264473.120   
2020 Zádori D, Szalárdy L, Reisz Z, Kovacs GG, Maszlag-Török R, Ajeawung NF, Vécsei L, Campeau PM, Klivényi P. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the Gene. Frontiers in Neurology. 11: 767. PMID 32849222 DOI: 10.3389/fneur.2020.00767   
2020 Zádori D, Szalárdy L, Reisz Z, Kovacs GG, Maszlag-Török R, Ajeawung NF, Vécsei L, Campeau PM, Klivényi P. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the Gene. Frontiers in Neurology. 11: 767. PMID 32849222 DOI: 10.3389/fneur.2020.00767