Slovay Petrovski - Related publications

Affiliations: 
University of Melbourne, Parkville, Victoria, Australia 
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50 most relevant papers in past 60 days:
Year Citation  Score
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 Au PYB, Eaton A, Dyment DA. Genetic mechanisms of neurodevelopmental disorders. Handbook of Clinical Neurology. 173: 307-326. PMID 32958182 DOI: 10.1016/B978-0-444-64150-2.00024-1   
2020 Gorcenco S, Ilinca A, Almasoudi W, Kafantari E, Lindgren AG, Puschmann A. New generation genetic testing entering the clinic. Parkinsonism & Related Disorders. 73: 72-84. PMID 32273229 DOI: 10.1016/j.parkreldis.2020.02.015   
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 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 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 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 Verma IC, Bhatia S, Arora V. Genetic Testing in Pediatric Epilepsy. Indian Journal of Pediatrics. PMID 33090324 DOI: 10.1007/s12098-020-03512-8   
2020 McKnight I, Hart C, Park IH, Shim JW. Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions. Experimental Neurology. 113523. PMID 33157092 DOI: 10.1016/j.expneurol.2020.113523   
2020 Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, et al. Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. Npj Genomic Medicine. 5: 44. PMID 33083013 DOI: 10.1038/s41525-020-00150-z   
2020 Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, et al. Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences. Frontiers in Genetics. 11: 957. PMID 33110418 DOI: 10.3389/fgene.2020.00957   
2020 Bean DM, Al-Chalabi A, Dobson RJB, Iacoangeli A. A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis. Genes. 11. PMID 32575372 DOI: 10.3390/genes11060668   
2020 Aref-Eshghi E, Kerkhof J, Carere DA, Volodarsky M, Bhai P, Colaiacovo S, Saleh M, Caudle M, Karp N, Prasad C, Balci T, Lin H, Campbell C, Siu VM, Sadikovic B. Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario. Journal of Human Genetics. PMID 33093641 DOI: 10.1038/s10038-020-00860-3   
2020 Nguyen ND, Jin T, Wang D. Varmole: A biologically drop-connect deep neural network model for prioritizing disease risk variants and genes. Bioinformatics (Oxford, England). PMID 33031552 DOI: 10.1093/bioinformatics/btaa866   
2020 Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH. Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. Epilepsia. PMID 33140451 DOI: 10.1111/epi.16741   
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 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 Nardello R, Fontana A, Donato Mangano G, Efthymiou S, Salpietro V, Houlden H, Mangano S. Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants. Epileptic Disorders : International Epilepsy Journal With Videotape. 22: 111-115. PMID 32031527 DOI: 10.1684/epd.2020.1138   
2020 Nardello R, Fontana A, Donato Mangano G, Efthymiou S, Salpietro V, Houlden H, Mangano S. Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants. Epileptic Disorders : International Epilepsy Journal With Videotape. 22: 111-115. PMID 32031527 DOI: 10.1684/epd.2020.1138   
2020 Pierce SE, Booms A, Prahl J, van der Schans EJC, Tyson T, Coetzee GA. Post-GWAS knowledge gap: the how, where, and when. Npj Parkinson's Disease. 6: 23. PMID 32964108 DOI: 10.1038/s41531-020-00125-y   
2020 Carrasco Salas P, Martínez Fernández E, Méndez Del Barrio C, Serrano Mira A, Guerrero Moreno N, Royo I, Delgado M, Oropesa JM, Vázquez Rico I. Clinical and molecular characterization of hereditary spastic paraplegia in a spanish southern region. The International Journal of Neuroscience. 1-12. PMID 33059505 DOI: 10.1080/00207454.2020.1838514   
2020 Owen KA, Price A, Ainsworth H, Aidukaitis BN, Bachali P, Catalina MD, Dittman JM, Howard TD, Kingsmore KM, Labonte AC, Marion MC, Robl RD, Zimmerman KD, Langefeld CD, Grammer AC, et al. Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries. American Journal of Human Genetics. PMID 33031749 DOI: 10.1016/j.ajhg.2020.09.007   
2020 Ding J, Miao QF, Zhang JW, Guo YX, Zhang YX, Zhai QX, Chen ZH. H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus. Brain and Behavior. e01859. PMID 32990398 DOI: 10.1002/brb3.1859   
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 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 Oved JH, Babushok DV, Lambert MP, Wolfset N, Kowalska MA, Poncz M, Karczewski KJ, Olson TS. Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes. Blood Advances. 4: 5232-5245. PMID 33104793 DOI: 10.1182/bloodadvances.2020002687   
2020 Powell SK, O'Shea C, Brennand KJ, Akbarian S. Parsing the Functional Impact of Noncoding Genetic Variants in the Brain Epigenome. Biological Psychiatry. PMID 33131715 DOI: 10.1016/j.biopsych.2020.06.033   
2020 Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Kluger G, Muhle H, Møller RS, Platzer K, Santos JL, Bache I, Bertsche A, Bonfert M, et al. The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. Biomedicines. 8. PMID 33126500 DOI: 10.3390/biomedicines8110456   
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 Wang J, Dao FT, Yang L, Qin YZ. Characterization of somatic mutation-associated microenvironment signatures in acute myeloid leukemia patients based on TCGA analysis. Scientific Reports. 10: 19037. PMID 33149230 DOI: 10.1038/s41598-020-76048-8   
2020 Ghoussaini M, Mountjoy E, Carmona M, Peat G, Schmidt EM, Hercules A, Fumis L, Miranda A, Carvalho-Silva D, Buniello A, Burdett T, Hayhurst J, Baker J, Ferrer J, Gonzalez-Uriarte A, et al. Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. Nucleic Acids Research. PMID 33045747 DOI: 10.1093/nar/gkaa840   
2020 Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, et al. Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia. Clinical Genetics. PMID 33111339 DOI: 10.1111/cge.13832   
2020 Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, et al. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nature Genetics. PMID 33046855 DOI: 10.1038/s41588-020-0707-1   
2020 Umehara H, Nakamura M, Nagai M, Kato Y, Ueno SI, Sano A. Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation. Journal of Human Genetics. PMID 32920599 DOI: 10.1038/s10038-020-00840-7   
2020 Umehara H, Nakamura M, Nagai M, Kato Y, Ueno SI, Sano A. Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation. Journal of Human Genetics. PMID 32920599 DOI: 10.1038/s10038-020-00840-7   
2020 Gao W, Cheng L, He S, Li W, Zhou C, Zhou B, Liu J, Xu J, Yu X, Zhu H. Multiomics integrative analysis for gene signatures and prognostic values of mA regulators in pancreatic adenocarcinoma: a retrospective study in The Cancer Genome Atlas project. Aging. 12. PMID 33082301 DOI: 10.18632/aging.103942   
2020 Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R. Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. International Journal of Molecular Sciences. 21. PMID 33096746 DOI: 10.3390/ijms21207784   
2020 Thapa KS, Chen AB, Lai D, Xuei X, Wetherill L, Tischfield JA, Liu Y, Edenberg HJ. Identification of Functional Genetic Variants Associated with Alcohol Dependence and Related Phenotypes Using a High-Throughput Assay. Alcoholism, Clinical and Experimental Research. PMID 33119910 DOI: 10.1111/acer.14492   
2020 Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE, , Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, et al. ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. American Journal of Medical Genetics. Part A. PMID 33112498 DOI: 10.1002/ajmg.a.61936   
2020 Rashid NU, Li Q, Yeh JJ, Ibrahim JG. Modeling Between-Study Heterogeneity for Improved Replicability in Gene Signature Selection and Clinical Prediction. Journal of the American Statistical Association. 115: 1125-1138. PMID 33012902 DOI: 10.1080/01621459.2019.1671197   
2020 Teng J, Huang S, Chen Z, Gao N, Ye S, Diao S, Ding X, Yuan X, Zhang H, Li J, Zhang Z. Optimizing genomic prediction model given causal genes in a dairy cattle population. Journal of Dairy Science. PMID 32952023 DOI: 10.3168/jds.2020-18233   
2020 Teng J, Huang S, Chen Z, Gao N, Ye S, Diao S, Ding X, Yuan X, Zhang H, Li J, Zhang Z. Optimizing genomic prediction model given causal genes in a dairy cattle population. Journal of Dairy Science. PMID 32952023 DOI: 10.3168/jds.2020-18233   
2020 Teng J, Huang S, Chen Z, Gao N, Ye S, Diao S, Ding X, Yuan X, Zhang H, Li J, Zhang Z. Optimizing genomic prediction model given causal genes in a dairy cattle population. Journal of Dairy Science. PMID 32952023 DOI: 10.3168/jds.2020-18233   
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 Polprasert C, Takeuchi Y, Makishima H, Wudhikarn K, Kakiuchi N, Tangnuntachai N, Assanasen T, Sitthi W, Muhamad H, Lawasut P, Kongkiatkamon S, Bunworasate U, Izutsu K, Shiraishi Y, Chiba K, et al. Frequent mutations in HLA and related genes in extranodal NK/T cell lymphomas. Leukemia & Lymphoma. 1-9. PMID 32964767 DOI: 10.1080/10428194.2020.1821011   
2020 Tamargo-Gómez I, Fernández ÁF, Mariño G. Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes. International Journal of Molecular Sciences. 21. PMID 33147747 DOI: 10.3390/ijms21218196   
2020 Wawrocka A, Walczak-Sztulpa J, Pawlak M, Gotz-Wieckowska A, Krawczynski MR. Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. American Journal of Medical Genetics. Part A. PMID 33111437 DOI: 10.1002/ajmg.a.61938   
2020 Mhaske A, Dileep KV, Kumar M, Poojary M, Pandhare K, Zhang KYJ, Scaria V, Binukumar BK. ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. Computational and Structural Biotechnology Journal. 18: 2347-2356. PMID 32994893 DOI: 10.1016/j.csbj.2020.08.021   
2020 Corces MR, Shcherbina A, Kundu S, Gloudemans MJ, Frésard L, Granja JM, Louie BH, Eulalio T, Shams S, Bagdatli ST, Mumbach MR, Liu B, Montine KS, Greenleaf WJ, Kundaje A, et al. Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases. Nature Genetics. PMID 33106633 DOI: 10.1038/s41588-020-00721-x