Kim Debacker, Ph.D. - Related publications

2007 Universiteit Antwerpen (Belgium) 
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Ramaswami G, Won H, Gandal MJ, Haney J, Wang JC, Wong CCY, Sun W, Prabhakar S, Mill J, Geschwind DH. Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism. Nature Communications. 11: 4873. PMID 32978376 DOI: 10.1038/s41467-020-18526-1   
2020 Trinh S, Arnett A, Kurtz-Nelson E, Beighley J, Picoto M, Bernier R. Transcriptional subtyping explains phenotypic variability in genetic subtypes of autism spectrum disorder. Development and Psychopathology. 1-9. PMID 32912353 DOI: 10.1017/S0954579420000784   
2020 Shah AA, Zhang G, Li K, Chenbin L, Kanhar AA, Wang M, Quan Y, Wu H, Shen L, Khan R, Guodong C, Ou J, Hu Z, Xia K, Guo H. Excess of RALGAPB de novo variants in neurodevelopmental disorders. European Journal of Medical Genetics. 104041. PMID 32853829 DOI: 10.1016/j.ejmg.2020.104041   
2020 Nguyen TA, Lehr AW, Roche KW. Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics. Frontiers in Synaptic Neuroscience. 12: 33. PMID 32848696 DOI: 10.3389/fnsyn.2020.00033   
2020 Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Scientific Reports. 10: 14045. PMID 32820185 DOI: 10.1038/s41598-020-70656-0   
2020 Chen S, Wang J, Cicek E, Roeder K, Yu H, Devlin B. De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types. Molecular Autism. 11: 76. PMID 33032641 DOI: 10.1186/s13229-020-00386-7   
2020 Ishizuka K, Yoshida T, Kawabata T, Imai A, Mori H, Kimura H, Inada T, Okahisa Y, Egawa J, Usami M, Kushima I, Morikawa M, Okada T, Ikeda M, Branko A, et al. Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia. Journal of Neurodevelopmental Disorders. 12: 25. PMID 32942984 DOI: 10.1186/s11689-020-09325-2   
2020 Gold NB, Li D, Chassevent A, Kaiser FJ, Parenti I, Strom TM, Ramos FJ, Puisac B, Pié J, McWalter K, Guillen Sacoto MJ, Cui H, Saadeh-Haddad R, Smith-Hicks C, Rodan L, et al. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clinical Genetics. PMID 33009664 DOI: 10.1111/cge.13851   
2020 Gold NB, Li D, Chassevent A, Kaiser FJ, Parenti I, Strom TM, Ramos FJ, Puisac B, Pié J, McWalter K, Guillen Sacoto MJ, Cui H, Saadeh-Haddad R, Smith-Hicks C, Rodan L, et al. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clinical Genetics. PMID 33009664 DOI: 10.1111/cge.13851   
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 Yumoto T, Kimura M, Nagatomo R, Sato T, Utsunomiya S, Aoki N, Kitaura M, Takahashi K, Takemoto H, Watanabe H, Okano H, Yoshida F, Nao Y, Tomita T. Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms. Molecular Autism. 11: 68. PMID 32873342 DOI: 10.1186/s13229-020-00373-y   
2020 Xie Y, Zhang X, Liu F, Qin W, Fu J, Xue K, Yu C. Brain mRNA Expression Associated with Cortical Volume Alterations in Autism Spectrum Disorder. Cell Reports. 32: 108137. PMID 32937121 DOI: 10.1016/j.celrep.2020.108137   
2020 Wang L, Zhang Y, Li K, Wang Z, Wang X, Li B, Zhao G, Fang Z, Ling Z, Luo T, Xia L, Li Y, Guo H, Hu Z, Li J, et al. Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. Molecular Autism. 11: 75. PMID 33023636 DOI: 10.1186/s13229-020-00382-x   
2020 Javed S, Selliah T, Lee YJ, Huang WH. Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy. Neuroscience and Biobehavioral Reviews. PMID 32858083 DOI: 10.1016/j.neubiorev.2020.08.009   
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 Budimirovic DB, Schlageter A, Filipovic-Sadic S, Protic DD, Bram E, Mahone EM, Nicholson K, Culp K, Javanmardi K, Kemppainen J, Hadd A, Sharp K, Adayev T, LaFauci G, Dobkin C, et al. A Genotype-Phenotype Study of High-Resolution Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments. Brain Sciences. 10. PMID 33008014 DOI: 10.3390/brainsci10100694   
2020 Zhang Y, Wang R, Liu Z, Jiang S, Du L, Qiu K, Li F, Wang Q, Jin J, Chen X, Li Z, Wu J, Zhang N. Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 32929885 DOI: 10.1002/ajmg.b.32821   
2020 Noroozi R, Dinger ME, Fatehi R, Taheri M, Ghafouri-Fard S. Identification of miRNA-mRNA Network in Autism Spectrum Disorder Using a Bioinformatics Method. Journal of Molecular Neuroscience : Mn. PMID 32875540 DOI: 10.1007/s12031-020-01695-5   
2020 Garg P, Jadhav B, Rodriguez OL, Patel N, Martin-Trujillo A, Jain M, Metsu S, Olsen H, Paten B, Ritz B, Kooy RF, Gecz J, Sharp AJ. A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics. PMID 32937144 DOI: 10.1016/j.ajhg.2020.08.019   
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 Molnar-Szakacs I, Kupis L, Uddin LQ. Neuroimaging Markers of Risk and Pathways to Resilience in Autism Spectrum Disorder. Biological Psychiatry. Cognitive Neuroscience and Neuroimaging. PMID 32839155 DOI: 10.1016/j.bpsc.2020.06.017   
2020 Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ. Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder. Journal of Developmental and Behavioral Pediatrics : Jdbp. PMID 32947579 DOI: 10.1097/DBP.0000000000000850   
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 Huh SJ, Oh SY, Lee S, Lee JH, Kim SH, Pak MK, Kim HJ. Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing. Oncology Letters. 20: 205. PMID 32963611 DOI: 10.3892/ol.2020.12068   
2020 Yang K, Dong XY, Wu J, Zhu JJ, Tan Y, Yan YS, Lin L, Zhang DL. A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family. Molecular Medicine Reports. PMID 32945398 DOI: 10.3892/mmr.2020.11365   
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 Bagla S, Regling KA, Wakeling EN, Gadgeel M, Buck S, Zaidi AU, Flore LA, Chicka M, Schiffer CA, Chitlur MB, Ravindranath Y. Distinctive phenotypes in two children with novel germline mutations - one with myeloid malignancy and increased fetal hemoglobin. Pediatric Hematology and Oncology. 1-15. PMID 32990483 DOI: 10.1080/08880018.2020.1814463   
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 Narita A, Nagai M, Mizuno S, Ogishima S, Tamiya G, Ueki M, Sakurai R, Makino S, Obara T, Ishikuro M, Yamanaka C, Matsubara H, Kuniyoshi Y, Murakami K, Ueno F, et al. Clustering by phenotype and genome-wide association study in autism. Translational Psychiatry. 10: 290. PMID 32807774 DOI: 10.1038/s41398-020-00951-x   
2020 Yang J, Liu A, He I, Bai Y. Bioinformatics Analysis Revealed Novel 3'UTR Variants Associated with Intellectual Disability. Genes. 11. PMID 32858868 DOI: 10.3390/genes11090998   
2020 Zrzavy T, Leutmezer F, Kristoferitsch W, Kornek B, Schneider C, Rommer P, Berger T, Zimprich A. Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families. Genes. 11. PMID 32854198 DOI: 10.3390/genes11090988   
2020 Lau YC. Y chromosome in health and diseases. Cell & Bioscience. 10: 97. PMID 32817785 DOI: 10.1186/s13578-020-00452-w   
2020 Liu Y, Zheng J, Song L, Fang Y, Sun C, Li N, Liu G, Shu J. A novel gene mutation in neonatal hereditary spherocytosis: A case report. Experimental and Therapeutic Medicine. 20: 3253-3259. PMID 32855695 DOI: 10.3892/etm.2020.9062   
2020 Huang ZA, Zhang J, Zhu Z, Wu EQ, Tan KC. Identification of Autistic Risk Candidate Genes and Toxic Chemicals via Multilabel Learning. Ieee Transactions On Neural Networks and Learning Systems. PMID 32841125 DOI: 10.1109/TNNLS.2020.3016357   
2020 Lee J, Son MJ, Son CY, Jeong GH, Lee KH, Lee KS, Ko Y, Kim JY, Lee JY, Radua J, Eisenhut M, Gressier F, Koyanagi A, Stubbs B, Solmi M, et al. Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis. Brain Sciences. 10. PMID 33007889 DOI: 10.3390/brainsci10100692   
2020 Li Y, Qiu S, Shi J, Guo Y, Li Z, Cheng Y, Liu Y. Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders: a meta-analysis. Bmc Pediatrics. 20: 449. PMID 32972375 DOI: 10.1186/s12887-020-02330-3   
2020 Khan A, Miao Z, Umair M, Ullah A, Alshabeeb MA, Bilal M, Ahmad F, Rappold GA, Ansar M, Carapito R. Two Cases of Recessive Intellectual Disability Caused by and Variants. Genes. 11. PMID 32878022 DOI: 10.3390/genes11091021   
2020 Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, et al. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy. Human Genetics. PMID 33048237 DOI: 10.1007/s00439-020-02226-3   
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 Roberson-Nay R, Lapato DM, Wolen AR, Lancaster EE, Webb BT, Verhulst B, Hettema JM, York TP. An epigenome-wide association study of early-onset major depression in monozygotic twins. Translational Psychiatry. 10: 301. PMID 32843619 DOI: 10.1038/s41398-020-00984-2   
2020 Wright GEB, Caron NS, Ng B, Casal L, Casazza W, Xu X, Ooi J, Pouladi MA, Mostafavi S, Ross CJD, Hayden MR. Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease. Human Molecular Genetics. PMID 32898862 DOI: 10.1093/hmg/ddaa184   
2020 Chesi M, Stein CK, Garbitt VM, Sharik ME, Asmann YW, Bergsagel M, Riggs DL, Welsh SJ, Meermeier EW, Kumar SK, Braggio E, Bergsagel PL. Monosomic loss of MIR15A/MIR16-1 is a driver of multiple myeloma proliferation and disease progression. Blood Cancer Discovery. 1: 68-81. PMID 32954360 DOI: 10.1158/0008-5472.bcd-19-0068   
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 Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, ... , et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications. 11: 4932. PMID 33004838 DOI: 10.1038/s41467-020-18723-y   
2020 Sztal TE, Stainier DYR. Transcriptional adaptation: a mechanism underlying genetic robustness. Development (Cambridge, England). 147. PMID 32816903 DOI: 10.1242/dev.186452   
2020 MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, et al. Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Human Mutation. PMID 32939943 DOI: 10.1002/humu.24097   
2020 Ullah A, Bibi F, Haider N, Shahid G, Abdullah, Mustajab T, Khaliq T, Ahmad W. Clinical and genetic characterization of congenital lipoid adrenal hyperplasia. Clinical Dysmorphology. PMID 32858544 DOI: 10.1097/MCD.0000000000000340   
2020 Arif B, Rasheed A, Kumar KR, Fatima A, Abbas G, Wohler E, Sobriera N, Lohmann K, . A novel homozygous KY variant causing a complex neurological disorder. European Journal of Medical Genetics. 104031. PMID 32818658 DOI: 10.1016/j.ejmg.2020.104031   
2020 Arnett AB, Beighley JS, Kurtz-Nelson EC, Hoekzema K, Wang T, Bernier RA, Eichler EE. Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder. Autism Research : Official Journal of the International Society For Autism Research. PMID 32918531 DOI: 10.1002/aur.2385   
2020 Zhang S, Zhang X, Purmann C, Ma S, Shrestha A, Davis KN, Ho M, Huang Y, Pattni R, Wong WH, Bernstein JA, Hallmayer J, Urban AE. Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons. Biological Psychiatry. PMID 32919612 DOI: 10.1016/j.biopsych.2020.06.021