Cathy Barr, PhD - Related publications

SickKids Hospital 
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50 most relevant papers in past 60 days:
Year Citation  Score
2021 Abdulkadir M, Yu D, Osiecki L, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, et al. Investigation of gene-environment interactions in relation to tic severity. Journal of Neural Transmission (Vienna, Austria : 1996). PMID 34389898 DOI: 10.1007/s00702-021-02396-y   
2021 Polushina T, Banerjee N, Giddaluru S, Bettella F, Espeseth T, Lundervold AJ, Djurovic S, Cichon S, Hoffmann P, Nöthen MM, Steen VM, Andreassen OA, Le Hellard S. Identification of pleiotropy at the gene level between psychiatric disorders and related traits. Translational Psychiatry. 11: 410. PMID 34326310 DOI: 10.1038/s41398-021-01530-4   
2021 van Eyk CL, Webber DL, Minoche AE, Pérez-Jurado LA, Corbett MA, Gardner AE, Berry JG, Harper K, MacLennan AH, Gecz J. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. Npj Genomic Medicine. 6: 74. PMID 34531397 DOI: 10.1038/s41525-021-00238-0   
2021 Cable J, Purcell RH, Robinson E, Vorstman JAS, Chung WK, Constantino JN, Sanders SJ, Sahin M, Dolmetsch RE, Shah BM, Thurm A, Martin CL, Bearden CE, Mulle JG. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. Annals of the New York Academy of Sciences. PMID 34342000 DOI: 10.1111/nyas.14658   
2021 Trakadis Y, Accogli A, Qi B, Bloom D, Joober R, Levy E, Tabbane K. Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic. Neurogenetics. PMID 34363551 DOI: 10.1007/s10048-021-00664-3   
2021 Nomura J, Mardo M, Takumi T. Molecular signatures from multi-omics of autism spectrum disorders and schizophrenia. Journal of Neurochemistry. PMID 34537986 DOI: 10.1111/jnc.15514   
2021 Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, Shrikiran A, Ramesh Bhat Y, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Puri RD, Pai S, et al. Clinical and Genetic Spectrum of 104 Indian families with Central Nervous System White Matter Abnormalities. Clinical Genetics. PMID 34302356 DOI: 10.1111/cge.14037   
2021 Sofer T, Lee J, Kurniansyah N, Jain D, Laurie CA, Gogarten SM, Conomos MP, Heavner B, Hu Y, Kooperberg C, Haessler J, Vasan RS, Cupples LA, Coombes BJ, Seyerle A, ... , et al. BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion. Hgg Advances. 2. PMID 34337551 DOI: 10.1016/j.xhgg.2021.100040   
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 Gavazzi F, Charsar BA, Williams C, Shults J, Alves CA, Adang L, Vanderver A. Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy. Journal of Child Neurology. 36: 805-811. PMID 34514881 DOI: 10.1177/08830738211000977   
2021 Eyring KW, Geschwind DH. Three decades of ASD genetics: Building a foundation for neurobiological understanding and treatment. Human Molecular Genetics. PMID 34313757 DOI: 10.1093/hmg/ddab176   
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 Hirtz R, Zheng Y, Rajcsanyi LS, Libuda L, Antel J, Peters T, Hebebrand J, Hinney A. [Genetic Analyses of Complex Phenotypes Through the Example of Anorexia Nervosa and Bodyweight Regulation]. Zeitschrift Fur Kinder- Und Jugendpsychiatrie Und Psychotherapie. PMID 34328348 DOI: 10.1024/1422-4917/a000829   
2021 Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA, , et al. Recent ultra-rare inherited variants implicate new autism candidate risk genes. Nature Genetics. PMID 34312540 DOI: 10.1038/s41588-021-00899-8   
2021 Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA, , et al. Recent ultra-rare inherited variants implicate new autism candidate risk genes. Nature Genetics. PMID 34312540 DOI: 10.1038/s41588-021-00899-8   
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 Gauld C, Poisson A, Reversat J, Peyroux E, Houdayer-Robert F, Rossi M, Lesca G, Sanlaville D, Demily C. Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review. Bmc Psychiatry. 21: 360. PMID 34273950 DOI: 10.1186/s12888-021-03342-8   
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 Shen L, Li P, Zheng T, Luo M, Zhang S, Huang Y, Hu Y, Li H. Comparative analysis of the autism‑related variants between different autistic children in a family pedigree. Molecular Medicine Reports. 24. PMID 34368859 DOI: 10.3892/mmr.2021.12336   
2021 Seddon JM, Fortes M, Kelly-Smith M, Sommerlad SF, Hayward JJ, Burmeister L, De Risio L, Mellersh C, Freeman J, Strain GM. Deafness in Australian Cattle Dogs associated to QTL on chromosome 20 in genome-wide association study analyses. Animal Genetics. PMID 34318504 DOI: 10.1111/age.13115   
2021 Zhao A, Zhou R, Gu Q, Liu M, Zhang B, Huang J, Yang B, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Chen X. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: a mutational hotspot p.Trp161 and literature review. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 34478686 DOI: 10.1016/j.cca.2021.08.030   
2021 Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, ... , ... , et al. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. American Journal of Medical Genetics. Part A. PMID 34331327 DOI: 10.1002/ajmg.a.62445   
2021 Dhaliwal J, Qiao Y, Calli K, Martell S, Race S, Chijiwa C, Glodjo A, Jones S, Rajcan-Separovic E, Scherer SW, Lewis S. Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings. Genes. 12. PMID 34356069 DOI: 10.3390/genes12071053   
2021 Domené S, Scaglia PA, Gutiérrez ML, Domené HM. Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development. Cells. 10. PMID 34440832 DOI: 10.3390/cells10082063   
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 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 van Blokland IV, Lanting P, Ori APS, Vonk JM, Warmerdam RCA, Herkert JC, Boulogne F, Claringbould A, Lopera-Maya EA, Bartels M, Hottenga JJ, Ganna A, Karjalainen J, , , et al. Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility. Plos One. 16: e0255402. PMID 34379666 DOI: 10.1371/journal.pone.0255402   
2021 Majeed MM, Ahmed I, Roome T, Fatima T, Amin R. Association between Interleukin-1β Gene Polymorphism and Chronic Periodontitis. European Journal of Dentistry. PMID 34303316 DOI: 10.1055/s-0041-1730041   
2021 Medico-Salsench E, Karkala F, Lanko K, Barakat TS. The non-coding genome in genetic brain disorders: new targets for therapy? Essays in Biochemistry. PMID 34414418 DOI: 10.1042/EBC20200121   
2021 Serpen JY, Armenti ST, Prasov L. Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders. Journal of Ophthalmology. 2021: 6691291. PMID 34258050 DOI: 10.1155/2021/6691291   
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 Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, et al. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. European Journal of Human Genetics : Ejhg. PMID 34521999 DOI: 10.1038/s41431-021-00960-4   
2021 Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation. Neurogenetics. PMID 34370157 DOI: 10.1007/s10048-021-00649-2   
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 Li X, Wu Q, Zhou B, Liu Y, Lv J, Chang Q, Zhao Y. Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. Frontiers in Molecular Biosciences. 8: 687105. PMID 34540891 DOI: 10.3389/fmolb.2021.687105   
2021 Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, , et al. Identification of mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. Brain Communications. 3: fcab163. PMID 34423300 DOI: 10.1093/braincomms/fcab163   
2021 Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, et al. GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. Journal of Thrombosis and Haemostasis : Jth. PMID 34355501 DOI: 10.1111/jth.15459   
2021 Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, et al. Estimating the Post-Test Probability of Long QT Syndrome Diagnosis for Rare Variants. Circulation. Genomic and Precision Medicine. PMID 34309407 DOI: 10.1161/CIRCGEN.120.003289   
2021 Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, et al. Estimating the Post-Test Probability of Long QT Syndrome Diagnosis for Rare Variants. Circulation. Genomic and Precision Medicine. PMID 34309407 DOI: 10.1161/CIRCGEN.120.003289   
2021 Kapoor M, Chao MJ, Johnson EC, Novikova G, Lai D, Meyers JL, Schulman J, Nurnberger JI, Porjesz B, Liu Y, , Foroud T, Edenberg HJ, Marcora E, Agrawal A, et al. Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases. Nature Communications. 12: 5071. PMID 34417470 DOI: 10.1038/s41467-021-25392-y   
2021 Jiang Y, Chiu CY, Yan Q, Chen W, Gorin MB, Conley YP, Lakhal-Chaieb ML, Cook RJ, Amos CI, Wilson AF, Bailey-Wilson JE, McMahon FJ, Vazquez AI, Yuan A, Zhong X, et al. Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration. Journal of the American Statistical Association. 116: 531-545. PMID 34321704 DOI: 10.1080/01621459.2020.1799809   
2021 Arenella M, Cadby G, De Witte W, Jones RM, Whitehouse AJ, Moses EK, Fornito A, Bellgrove MA, Hawi Z, Johnson B, Tiego J, Buitelaar JK, Kiemeney LA, Poelmans G, Bralten J. Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits. Autism : the International Journal of Research and Practice. 13623613211019547. PMID 34344231 DOI: 10.1177/13623613211019547   
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 Zhang Y, Lu Q, Ye Y, Huang K, Liu W, Wu Y, Zhong X, Li B, Yu Z, Travers BG, Werling DM, Li JJ, Zhao H. SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits. Genome Biology. 22: 262. PMID 34493297 DOI: 10.1186/s13059-021-02478-w   
2021 Li S, Xi K, Liu T, Zhang Y, Li J. [Advance of research on Phelan-McDermid syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 38: 917-920. PMID 34487544 DOI: 10.3760/cma.j.cn511374-20200410-00251   
2021 Melak S, Wang Q, Tian Y, Wei W, Zhang L, Elbeltagy A, Chen J. Identification and Validation of Marketing Weight-Related SNP Markers Using SLAF Sequencing in Male Yangzhou Geese. Genes. 12. PMID 34440377 DOI: 10.3390/genes12081203   
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 Ortiz-González XR. Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? Developmental Neuroscience. 1-8. PMID 34350863 DOI: 10.1159/000517870   
2021 Liu S, Yan Z, Huang Y, Zheng W, Deng Y, Zou Y, Xie H. A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ. Psychiatric Genetics. 31: 135-139. PMID 34133408 DOI: 10.1097/YPG.0000000000000288   
2021 Srivastava S, Macke EL, Swanson LC, Coulter D, Klee EW, Mullegama SV, Xie Y, Lanpher BC, Bedoukian EC, Skraban CM, Villard L, Milh M, Leppert MLO, Cohen JS. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sciences. 11. PMID 34356165 DOI: 10.3390/brainsci11070931