Our Citations

GeneHancer

Selected citations:

  • A global transcriptional network connecting noncoding mutations to changes in tumor gene expression. (PMID: 29610481) Zhang W, Bojorquez-Gomez A, Velez DO, Xu G, Sanchez KS, Shen JP, Chen K, Licon K, Melton C, Olson KM, Yu MK, Huang JK, Carter H, Farley EK, Snyder M, Fraley SI, Kreisberg JF, Ideker T Nature genetics 2018
  • Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. (PMID: 30671673) He KY, Li X, Kelly TN, Liang J, Cade BE, Assimes TL, Becker LC, Beitelshees AL, Bress AP, Chang YC, Chen YI, de Vries PS, Fox ER, Franceschini N, Furniss A, Gao Y, Guo X, Haessler J, Hwang SJ, Irvin MR, Kalyani RR, Liu CT, Liu C, Martin LW, Montasser ME, Muntner PM, Mwasongwe S, Palmas W, Reiner AP, Shimbo D, Smith JA, Snively BM, Yanek LR, Boerwinkle E, Correa A, Cupples LA, He J, Kardia SLR, Kooperberg C, Mathias RA, Mitchell BD, Psaty BM, Vasan RS, Rao DC, Rich SS, Rotter JI, Wilson JG, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Blood Pressure Working Group, Chakravarti A, Morrison AC, Levy D, Arnett DK, Redline S, Zhu X Human genetics 2019
  • Promoter-Intrinsic and Local Chromatin Features Determine Gene Repression in LADs. (PMID: 30982597) Leemans C, van der Zwalm MCH, Brueckner L, Comoglio F, van Schaik T, Pagie L, van Arensbergen J, van Steensel B Cell 2019
  • The myopia susceptibility locus vasoactive intestinal peptide receptor 2 (VIPR2) contains variants with opposite effects. (PMID: 31796800) Leung KH, Luo S, Kwarteng R, Chen SG, Yap MKH, Huang CL, Yip SP Scientific reports 2019
  • UCSC Genome Browser enters 20th year. (PMID: 31691824) Lee CM, Barber GP, Casper J, Clawson H, Diekhans M, Gonzalez JN, Hinrichs AS, Lee BT, Nassar LR, Powell CC, Raney BJ, Rosenbloom KR, Schmelter D, Speir ML, Zweig AS, Haussler D, Haeussler M, Kuhn RM, Kent WJ Nucleic acids research 2020
  • Genomic basis for RNA alterations in cancer. (PMID: 32025019) PCAWG Transcriptome Core Group, Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, Perry MD, Xiang Q, Zhang F, Zhang J, Bailey P, Erkek S, Hoadley KA, Hou Y, Huska MR, Kilpinen H, Korbel JO, Marin MG, Markowski J, Nandi T, Pan-Hammarström Q, Pedamallu CS, Siebert R, Stark SG, Su H, Tan P, Waszak SM, Yung C, Zhu S, Awadalla P, Creighton CJ, Meyerson M, Ouellette BFF, Wu K, Yang H, PCAWG Transcriptome Working Group, Brazma A, Brooks AN, Göke J, Rätsch G, Schwarz RF, Stegle O, Zhang Z, PCAWG Consortium Nature 2020
  • Dual threshold optimization and network inference reveal convergent evidence from TF binding locations and TF perturbation responses. (PMID: 32060051) Kang Y, Patel NR, Shively C, Recio PS, Chen X, Wranik BJ, Kim G, McIsaac RS, Mitra R, Brent MR Genome research 2020
  • Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. (PMID: 32506582) Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL, Nicolas G Movement disorders : official journal of the Movement Disorder Society 2020

All citations:

  • Identification of novel genes associated with dysregulation of B cells in patients with primary Sjögren's syndrome. (PMID: 32571405) Inamo J, Suzuki K, Takeshita M, Kassai Y, Takiguchi M, Kurisu R, Okuzono Y, Tasaki S, Yoshimura A, Takeuchi T Arthritis research & therapy 2020
  • Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes. (PMID: 32513296) Sakthikumar S, Roy A, Haseeb L, Pettersson ME, Sundström E, Marinescu VD, Lindblad-Toh K, Forsberg-Nilsson K Genome biology 2020
  • EpiRegio: analysis and retrieval of regulatory elements linked to genes. (PMID: 32459338) Baumgarten N, Hecker D, Karunanithi S, Schmidt F, List M, Schulz MH Nucleic acids research 2020
  • Differential ESR1 Promoter Methylation in the Peripheral Blood-Findings from the Women 40+ Healthy Aging Study. (PMID: 32455834) Gardini ES, Chen GG, Fiacco S, Mernone L, Willi J, Turecki G, Ehlert U International journal of molecular sciences 2020
  • Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome. (PMID: 32450911) Köhler F, Bormann F, Raddatz G, Gutekunst J, Corless S, Musch T, Lonsdorf AS, Erhardt S, Lyko F, Rodríguez-Paredes M Genome medicine 2020
  • Differential glucocorticoid-dependent regulation and function of the ERRFI1 gene in triple-negative breast cancer. (PMID: 32432675) Mojica CAR, Ybañez WS, Olarte KCV, Poblete ABC, Bagamasbad PD Endocrinology 2020
  • Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains. (PMID: 32424074) Khrameeva E, Kurochkin I, Han D, Guijarro P, Kanton S, Santel M, Qian Z, Rong S, Mazin P, Sabirov M, Bulat M, Efimova O, Tkachev A, Guo S, Sherwood CC, Camp JG, Pääbo S, Treutlein B, Khaitovich P Genome research 2020
  • Characterization of long G4-rich enhancer-associated genomic regions engaging in a novel loop:loop 'G4 Kissing' interaction. (PMID: 32383760) Williams JD, Houserova D, Johnson BR, Dyniewski B, Berroyer A, French H, Barchie AA, Bilbrey DD, Demeis JD, Ghee KR, Hughes AG, Kreitz NW, McInnis CH, Pudner SC, Reeves MN, Stahly AN, Turcu A, Watters BC, Daly GT, Langley RJ, Gillespie MN, Prakash A, Larson ED, Kasukurthi MV, Huang J, Jinks-Robertson S, Borchert GM Nucleic acids research 2020
  • The transcription factor GLI1 cooperates with the chromatin remodeler SMARCA2 to regulate chromatin accessibility at distal DNA regulatory elements. (PMID: 32376693) Safgren SL, Olson RLO, Vrabel AM, Almada LL, Marks DL, Hernandez-Alvarado N, Gaspar-Maia A, Fernandez-Zapico ME The Journal of biological chemistry 2020
  • Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues. (PMID: 32371927) Marderstein AR, Uppal M, Verma A, Bhinder B, Tayyebi Z, Mezey J, Clark AG, Elemento O Nature communications 2020
  • BCL9/STAT3 regulation of transcriptional enhancer networks promote DCIS progression. (PMID: 32352029) Elsarraj HS, Hong Y, Limback D, Zhao R, Berger J, Bishop SC, Sabbagh A, Oppenheimer L, Harper HE, Tsimelzon A, Huang S, Hilsenbeck SG, Edwards DP, Fontes J, Fan F, Madan R, Fangman B, Ellis A, Tawfik O, Persons DL, Fields T, Godwin AK, Hagan CR, Swenson-Fields K, Coarfa C, Thompson J, Behbod F NPJ breast cancer 2020
  • Non-coding somatic mutations converge on the PAX8 pathway in ovarian cancer. (PMID: 32332753) Corona RI, Seo JH, Lin X, Hazelett DJ, Reddy J, Fonseca MAS, Abassi F, Lin YG, Mhawech-Fauceglia PY, Shah SP, Huntsman DG, Gusev A, Karlan BY, Berman BP, Freedman ML, Gayther SA, Lawrenson K Nature communications 2020
  • Global expression and CpG methylation analysis of primary endothelial cells before and after TNFa stimulation reveals gene modules enriched in inflammatory and infectious diseases and associated DMRs. (PMID: 32231389) Rhead B, Shao X, Quach H, Ghai P, Barcellos LF, Bowcock AM PloS one 2020
  • Exploring 3D chromatin contacts in gene regulation: The evolution of approaches for the identification of functional enhancer-promoter interaction. (PMID: 32226593) Xu H, Zhang S, Yi X, Plewczynski D, Li MJ Computational and structural biotechnology journal 2020
  • DNA methylation and histone acetylation changes to cytochrome P450 2E1 regulation in normal aging and impact on rates of drug metabolism in the liver. (PMID: 32221779) Kronfol MM, Jahr FM, Dozmorov MG, Phansalkar PS, Xie LY, Aberg KA, McRae M, Price ET, Slattum PW, Gerk PM, McClay JL GeroScience 2020
  • Profiling haplotype specific CpG and CpH methylation within a schizophrenia GWAS locus on chromosome 14 in schizophrenia and healthy subjects. (PMID: 32170143) Alfimova M, Kondratyev N, Golov A, Golimbet V Scientific reports 2020
  • Epigenetic Regulation of WNT3A Enhancer during Regeneration of Injured Cortical Neurons. (PMID: 32164275) Chang CY, Hung JH, Huang LW, Li J, Fung KS, Kao CF, Chen L International journal of molecular sciences 2020
  • CD29 identifies IFN-γ-producing human CD8+ T cells with an increased cytotoxic potential. (PMID: 32161126) Nicolet BP, Guislain A, van Alphen FPJ, Gomez-Eerland R, Schumacher TNM, van den Biggelaar M, Wolkers MC Proceedings of the National Academy of Sciences of the United States of America 2020
  • Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion. (PMID: 32143573) Fraune C, Harms L, Büscheck F, Höflmayer D, Tsourlakis MC, Clauditz TS, Simon R, Möller K, Luebke AM, Möller-Koop C, Steurer S, Hube-Magg C, Sauter G, Weidemann S, Lebok P, Dum D, Kind S, Minner S, Izbicki JR, Schlomm T, Huland H, Heinzer H, Burandt E, Haese A, Graefen M, Schroeder C Molecular medicine (Cambridge, Mass.) 2020
  • Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. (PMID: 32098967) Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA, International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M Nature communications 2020
  • Familial analysis reveals rare risk variants for migraine in regulatory regions. (PMID: 32076896) Techlo TR, Rasmussen AH, Møller PL, Bøttcher M, Winther S, Davidsson OB, Olofsson IA, Chalmer MA, Kogelman LJA, Nyegaard M, Olesen J, Hansen TF Neurogenetics 2020
  • Dual threshold optimization and network inference reveal convergent evidence from TF binding locations and TF perturbation responses. (PMID: 32060051) Kang Y, Patel NR, Shively C, Recio PS, Chen X, Wranik BJ, Kim G, McIsaac RS, Mitra R, Brent MR Genome research 2020
  • Novel Mutation Hotspots within Non-Coding Regulatory Regions of the Chronic Lymphocytic Leukemia Genome. (PMID: 32051441) Mosquera Orgueira A, Rodríguez Antelo B, Díaz Arias JÁ, Díaz Varela N, Alonso Vence N, González Pérez MS, Bello López JL Scientific reports 2020
  • Genomic basis for RNA alterations in cancer. (PMID: 32025019) PCAWG Transcriptome Core Group, Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, Perry MD, Xiang Q, Zhang F, Zhang J, Bailey P, Erkek S, Hoadley KA, Hou Y, Huska MR, Kilpinen H, Korbel JO, Marin MG, Markowski J, Nandi T, Pan-Hammarström Q, Pedamallu CS, Siebert R, Stark SG, Su H, Tan P, Waszak SM, Yung C, Zhu S, Awadalla P, Creighton CJ, Meyerson M, Ouellette BFF, Wu K, Yang H, PCAWG Transcriptome Working Group, Brazma A, Brooks AN, Göke J, Rätsch G, Schwarz RF, Stegle O, Zhang Z, PCAWG Consortium Nature 2020
  • A Pretraining-Retraining Strategy of Deep Learning Improves Cell-Specific Enhancer Predictions. (PMID: 31969903) Niu X, Yang K, Zhang G, Yang Z, Hu X Frontiers in genetics 2019
  • A curated benchmark of enhancer-gene interactions for evaluating enhancer-target gene prediction methods. (PMID: 31969180) Moore JE, Pratt HE, Purcaro MJ, Weng Z Genome biology 2020
  • Tracking the important role of JUNB in hepatocellular carcinoma by single-cell sequencing analysis. (PMID: 31966074) Yan P, Zhou B, Ma Y, Wang A, Hu X, Luo Y, Yuan Y, Wei Y, Pang P, Mao J Oncology letters 2020
  • Independent Transposon Exaptation Is a Widespread Mechanism of Redundant Enhancer Evolution in the Mammalian Genome. (PMID: 31950992) Barth NKH, Li L, Taher L Genome biology and evolution 2020
  • rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression. (PMID: 31928966) Pan G, Cavalli M, Carlsson B, Skrtic S, Kumar C, Wadelius C iScience 2020
  • Nuclear up regulation of the BRCA1-associated ubiquitinase BAP1 is associated with tumor aggressiveness in prostate cancers lacking the TMPRSS2:ERG fusion. (PMID: 31903168) Steurer S, Schwemmer L, Hube-Magg C, Büscheck F, Höflmayer D, Tsourlakis MC, Clauditz TS, Luebke AM, Simon R, Sauter G, Izbicki J, Schroeder C, Schlomm T, Huland H, Heinzer H, Haese A, Graefen M, Göbel C, Weidemann S, Lebok P, Dum D, Fraune C, Minner S, Meiners J Oncotarget 2019
  • Genome analysis and knowledge-driven variant interpretation with TGex. (PMID: 31888639) Dahary D, Golan Y, Mazor Y, Zelig O, Barshir R, Twik M, Iny Stein T, Rosner G, Kariv R, Chen F, Zhang Q, Shen Y, Safran M, Lancet D, Fishilevich S BMC medical genomics 2019
  • Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. (PMID: 31883642) Raffield LM, Iyengar AK, Wang B, Gaynor SM, Spracklen CN, Zhong X, Kowalski MH, Salimi S, Polfus LM, Benjamin EJ, Bis JC, Bowler R, Cade BE, Choi WJ, Comellas AP, Correa A, Cruz P, Doddapaneni H, Durda P, Gogarten SM, Jain D, Kim RW, Kral BG, Lange LA, Larson MG, Laurie C, Lee J, Lee S, Lewis JP, Metcalf GA, Mitchell BD, Momin Z, Muzny DM, Pankratz N, Park CJ, Rich SS, Rotter JI, Ryan K, Seo D, Tracy RP, Viaud-Martinez KA, Yanek LR, Zhao LP, Lin X, Li B, Li Y, Dupuis J, Reiner AP, Mohlke KL, Auer PL, TOPMed Inflammation Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium American journal of human genetics 2020
  • Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. (PMID: 31870554) Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L, International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE American journal of human genetics 2020
  • PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders. (PMID: 31809863) Lin GN, Guo S, Tan X, Wang W, Qian W, Song W, Wang J, Yu S, Wang Z, Cui D, Wang H Genomics, proteomics & bioinformatics 2019
  • The myopia susceptibility locus vasoactive intestinal peptide receptor 2 (VIPR2) contains variants with opposite effects. (PMID: 31796800) Leung KH, Luo S, Kwarteng R, Chen SG, Yap MKH, Huang CL, Yip SP Scientific reports 2019
  • Loss of ANCO1 repression at AIB1/YAP targets drives breast cancer progression. (PMID: 31788936) Kushner MH, Ory V, Graham GT, Sharif GM, Kietzman WB, Thevissen S, Yuan M, Schmidt MO, Wellstein A, Riegel AT EMBO reports 2020
  • EnhancerAtlas 2.0: an updated resource with enhancer annotation in 586 tissue/cell types across nine species. (PMID: 31740966) Gao T, Qian J Nucleic acids research 2020
  • Coagulation FXIII-A Protein Expression Defines Three Novel Sub-populations in Pediatric B-Cell Progenitor Acute Lymphoblastic Leukemia Characterized by Distinct Gene Expression Signatures. (PMID: 31709175) Gyurina K, Kárai B, Ujfalusi A, Hevessy Z, Barna G, Jáksó P, Pálfi-Mészáros G, Póliska S, Scholtz B, Kappelmayer J, Zahuczky G, Kiss C Frontiers in oncology 2019
  • UCSC Genome Browser enters 20th year. (PMID: 31691824) Lee CM, Barber GP, Casper J, Clawson H, Diekhans M, Gonzalez JN, Hinrichs AS, Lee BT, Nassar LR, Powell CC, Raney BJ, Rosenbloom KR, Schmelter D, Speir ML, Zweig AS, Haussler D, Haeussler M, Kuhn RM, Kent WJ Nucleic acids research 2020
  • ENdb: a manually curated database of experimentally supported enhancers for human and mouse. (PMID: 31665430) Bai X, Shi S, Ai B, Jiang Y, Liu Y, Han X, Xu M, Pan Q, Wang F, Wang Q, Zhang J, Li X, Feng C, Li Y, Wang Y, Song Y, Feng K, Li C Nucleic acids research 2020
  • Human-specific tandem repeat expansion and differential gene expression during primate evolution. (PMID: 31659027) Sulovari A, Li R, Audano PA, Porubsky D, Vollger MR, Logsdon GA, Human Genome Structural Variation Consortium, Warren WC, Pollen AA, Chaisson MJP, Eichler EE Proceedings of the National Academy of Sciences of the United States of America 2019
  • 7C: Computational Chromosome Conformation Capture by Correlation of ChIP-seq at CTCF motifs. (PMID: 31653198) Ibn-Salem J, Andrade-Navarro MA BMC genomics 2019
  • Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (CASZ1). (PMID: 31642367) Abdulrahim JW, Kwee LC, Grass E, Siegler IC, Williams R, Karra R, Kraus WE, Gregory SG, Shah SH Journal of the American Heart Association 2019
  • Genetic regulatory variation in populations informs transcriptome analysis in rare disease. (PMID: 31601707) Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang Z, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T Science (New York, N.Y.) 2019
  • VISDB: a manually curated database of viral integration sites in the human genome. (PMID: 31598702) Tang D, Li B, Xu T, Hu R, Tan D, Song X, Jia P, Zhao Z Nucleic acids research 2020
  • Age-related DNA hydroxymethylation is enriched for gene expression and immune system processes in human peripheral blood. (PMID: 31506003) Johnson ND, Huang L, Li R, Li Y, Yang Y, Kim HR, Grant C, Wu H, Whitsel EA, Kiel DP, Baccarelli AA, Jin P, Murabito JM, Conneely KN Epigenetics 2020
  • Human cardiac myosin light chain 4 (MYL4) mosaic expression patterns vary by sex. (PMID: 31481666) Wang TY, Arking DE, Maleszewski JJ, Fox-Talbot K, Nieuwenhuis TO, Santhanam L, Virmani R, Rosenberg AZ, Halushka MK Scientific reports 2019
  • Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. (PMID: 31477735) Liu X, Helenius D, Skotte L, Beaumont RN, Wielscher M, Geller F, Juodakis J, Mahajan A, Bradfield JP, Lin FTJ, Vogelezang S, Bustamante M, Ahluwalia TS, Pitkänen N, Wang CA, Bacelis J, Borges MC, Zhang G, Bedell BA, Rossi RM, Skogstrand K, Peng S, Thompson WK, Appadurai V, Lawlor DA, Kalliala I, Power C, McCarthy MI, Boyd HA, Marazita ML, Hakonarson H, Hayes MG, Scholtens DM, Rivadeneira F, Jaddoe VWV, Vinding RK, Bisgaard H, Knight BA, Pahkala K, Raitakari O, Helgeland Ø, Johansson S, Njølstad PR, Fadista J, Schork AJ, Nudel R, Miller DE, Chen X, Weirauch MT, Mortensen PB, Børglum AD, Nordentoft M, Mors O, Hao K, Ryckman KK, Hougaard DM, Kottyan LC, Pennell CE, Lyytikainen LP, Bønnelykke K, Vrijheid M, Felix JF, Lowe WL, Grant SFA, Hyppönen E, Jacobsson B, Jarvelin MR, Muglia LJ, Murray JC, Freathy RM, Werge TM, Melbye M, Buil A, Feenstra B Nature communications 2019
  • Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development. (PMID: 31417368) Perenthaler E, Yousefi S, Niggl E, Barakat TS Frontiers in cellular neuroscience 2019
  • Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report. (PMID: 31375103) Yauy K, Schneider A, Ng BL, Gaillard JB, Sati S, Coubes C, Wells C, Tournaire M, Guignard T, Bouret P, Geneviève D, Puechberty J, Pellestor F, Gatinois V BMC medical genomics 2019
  • Cell-type-specific resolution epigenetics without the need for cell sorting or single-cell biology. (PMID: 31366909) Rahmani E, Schweiger R, Rhead B, Criswell LA, Barcellos LF, Eskin E, Rosset S, Sankararaman S, Halperin E Nature communications 2019
  • Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population. (PMID: 31340865) Wong JH, Shigemizu D, Yoshii Y, Akiyama S, Tanaka A, Nakagawa H, Narumiya S, Fujimoto A Genome medicine 2019
  • Identification of ROBO1/2 and SCEL as candidate genes in Kallmann syndrome with emerging bioinformatic analysis. (PMID: 31325086) Zhu Z, Han X, Li Y, Han C, Deng M, Zhang Y, Shen Q, Cao Y, Li Z, Wang X, Gu J, Liu X, Yang Y, Zhang Q, Hu F Endocrine 2020
  • Computational Biology Solutions to Identify Enhancers-target Gene Pairs. (PMID: 31316726) Hariprakash JM, Ferrari F Computational and structural biotechnology journal 2019
  • Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects. (PMID: 31234639) Gill D, Georgakis MK, Koskeridis F, Jiang L, Feng Q, Wei WQ, Theodoratou E, Elliott P, Denny JC, Malik R, Evangelou E, Dehghan A, Dichgans M, Tzoulaki I Circulation 2019
  • Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient. (PMID: 31216356) Helgadottir HT, Lundin P, Wallén Arzt E, Lindström AK, Graff C, Eriksson M Human molecular genetics 2019
  • Supplementation with psyllium seed husk reduces myocardial damage in a rat model of ischemia/reperfusion. (PMID: 31214288) Lim SH, Lee J Nutrition research and practice 2019
  • Genome-wide RNA pol II initiation and pausing in neural progenitors of the rat. (PMID: 31185909) Scheidegger A, Dunn CJ, Samarakkody A, Koney NK, Perley D, Saha RN, Nechaev S BMC genomics 2019
  • Expression of endogenous retroviruses reflects increased usage of atypical enhancers in T cells. (PMID: 31068361) Azébi S, Batsché E, Michel F, Kornobis E, Muchardt C The EMBO journal 2019
  • β-Catenin/Smad3 Interaction Regulates Transforming Growth Factor-β-Induced Epithelial to Mesenchymal Transition in the Lens. (PMID: 31035577) Taiyab A, Holms J, West-Mays JA International journal of molecular sciences 2019
  • Promoter-Intrinsic and Local Chromatin Features Determine Gene Repression in LADs. (PMID: 30982597) Leemans C, van der Zwalm MCH, Brueckner L, Comoglio F, van Schaik T, Pagie L, van Arensbergen J, van Steensel B Cell 2019
  • Improved Prediction of Regulatory Element Using Hybrid Abelian Complexity Features with DNA Sequences. (PMID: 30959806) Wu C, Chen J, Liu Y, Hu X International journal of molecular sciences 2019
  • Metabolome-based signature of disease pathology in MS. (PMID: 30877925) Andersen SL, Briggs FBS, Winnike JH, Natanzon Y, Maichle S, Knagge KJ, Newby LK, Gregory SG Multiple sclerosis and related disorders 2019
  • Integrated epigenomic profiling reveals endogenous retrovirus reactivation in renal cell carcinoma. (PMID: 30827930) Siebenthall KT, Miller CP, Vierstra JD, Mathieu J, Tretiakova M, Reynolds A, Sandstrom R, Rynes E, Haugen E, Johnson A, Nelson J, Bates D, Diegel M, Dunn D, Frerker M, Buckley M, Kaul R, Zheng Y, Himmelfarb J, Ruohola-Baker H, Akilesh S EBioMedicine 2019
  • Genome-wide association study of inhaled corticosteroid response in admixed children with asthma. (PMID: 30697902) Hernandez-Pacheco N, Farzan N, Francis B, Karimi L, Repnik K, Vijverberg SJ, Soares P, Schieck M, Gorenjak M, Forno E, Eng C, Oh SS, Pérez-Méndez L, Berce V, Tavendale R, Samedy LA, Hunstman S, Hu D, Meade K, Farber HJ, Avila PC, Serebrisky D, Thyne SM, Brigino-Buenaventura E, Rodriguez-Cintron W, Sen S, Kumar R, Lenoir M, Rodriguez-Santana JR, Celedón JC, Mukhopadhyay S, Potočnik U, Pirmohamed M, Verhamme KM, Kabesch M, Palmer CNA, Hawcutt DB, Flores C, Maitland-van der Zee AH, Burchard EG, Pino-Yanes M Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2019
  • A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment. (PMID: 30692689) Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, Delaneau O, Revsbech Christiansen M, Hougaard DM, Bækved-Hansen M, Bybjerg-Grauholm J, Giørtz Pedersen M, Agerbo E, Bøcker Pedersen C, Neale BM, Daly MJ, Wray NR, Nordentoft M, Mors O, Børglum AD, Bo Mortensen P, Buil A, Thompson WK, Geschwind DH, Werge T Nature neuroscience 2019
  • Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. (PMID: 30671673) He KY, Li X, Kelly TN, Liang J, Cade BE, Assimes TL, Becker LC, Beitelshees AL, Bress AP, Chang YC, Chen YI, de Vries PS, Fox ER, Franceschini N, Furniss A, Gao Y, Guo X, Haessler J, Hwang SJ, Irvin MR, Kalyani RR, Liu CT, Liu C, Martin LW, Montasser ME, Muntner PM, Mwasongwe S, Palmas W, Reiner AP, Shimbo D, Smith JA, Snively BM, Yanek LR, Boerwinkle E, Correa A, Cupples LA, He J, Kardia SLR, Kooperberg C, Mathias RA, Mitchell BD, Psaty BM, Vasan RS, Rao DC, Rich SS, Rotter JI, Wilson JG, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Blood Pressure Working Group, Chakravarti A, Morrison AC, Levy D, Arnett DK, Redline S, Zhu X Human genetics 2019
  • NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker. (PMID: 30577810) Guo G, Wang H, Shi X, Ye L, Wu K, Lin K, Ye S, Li B, Zhang H, Lin Q, Ye S, Xue X, Chen C Journal of translational medicine 2018
  • Genome-Wide Identification of Direct RTA Targets Reveals Key Host Factors for Kaposi's Sarcoma-Associated Herpesvirus Lytic Reactivation. (PMID: 30541837) Papp B, Motlagh N, Smindak RJ, Jin Jang S, Sharma A, Alonso JD, Toth Z Journal of virology 2019
  • H19X-encoded miR-424(322)/-503 cluster: emerging roles in cell differentiation, proliferation, plasticity and metabolism. (PMID: 30474694) Wang F, Liang R, Tandon N, Matthews ER, Shrestha S, Yang J, Soibam B, Yang J, Liu Y Cellular and molecular life sciences : CMLS 2019
  • OncoBase: a platform for decoding regulatory somatic mutations in human cancers. (PMID: 30445567) Li X, Shi L, Wang Y, Zhong J, Zhao X, Teng H, Shi X, Yang H, Ruan S, Li M, Sun ZS, Zhan Q, Mao F Nucleic acids research 2019
  • Regulatory Genomic Data Cubism. (PMID: 30428322) Fang H, Wang K iScience 2018
  • Ehrlichia chaffeensis TRP47 enters the nucleus via a MYND-binding domain-dependent mechanism and predominantly binds enhancers of host genes associated with signal transduction, cytoskeletal organization, and immune response. (PMID: 30408047) Kibler CE, Milligan SL, Farris TR, Zhu B, Mitra S, McBride JW PloS one 2018
  • Autotaxin upregulated by STAT3 activation contributes to invasion in pancreatic neuroendocrine neoplasms. (PMID: 30352421) Yang L, Yu X, Yang Y Endocrine connections 2018
  • MicroRNA-532-5p Regulates Pericyte Function by Targeting the Transcription Regulator BACH1 and Angiopoietin-1. (PMID: 30274787) Slater SC, Jover E, Martello A, Mitić T, Rodriguez-Arabaolaza I, Vono R, Alvino VV, Satchell SC, Spinetti G, Caporali A, Madeddu P Molecular therapy : the journal of the American Society of Gene Therapy 2018
  • HACER: an atlas of human active enhancers to interpret regulatory variants. (PMID: 30247654) Wang J, Dai X, Berry LD, Cogan JD, Liu Q, Shyr Y Nucleic acids research 2019
  • Genome-wide Identification and Characterization of Enhancers Across 10 Human Tissues. (PMID: 30123079) Xiong L, Kang R, Ding R, Kang W, Zhang Y, Liu W, Huang Q, Meng J, Guo Z International journal of biological sciences 2018
  • mutTCPdb: a comprehensive database for genomic variants of a tropical country neglected disease-tropical calcific pancreatitis. (PMID: 30053238) Singh G, Bhat B, Jayadev MSK, Madhusudhan C, Singh A Database : the journal of biological databases and curation 2018
  • Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer. (PMID: 30033370) Quigley DA, Dang HX, Zhao SG, Lloyd P, Aggarwal R, Alumkal JJ, Foye A, Kothari V, Perry MD, Bailey AM, Playdle D, Barnard TJ, Zhang L, Zhang J, Youngren JF, Cieslik MP, Parolia A, Beer TM, Thomas G, Chi KN, Gleave M, Lack NA, Zoubeidi A, Reiter RE, Rettig MB, Witte O, Ryan CJ, Fong L, Kim W, Friedlander T, Chou J, Li H, Das R, Li H, Moussavi-Baygi R, Goodarzi H, Gilbert LA, Lara PN, Evans CP, Goldstein TC, Stuart JM, Tomlins SA, Spratt DE, Cheetham RK, Cheng DT, Farh K, Gehring JS, Hakenberg J, Liao A, Febbo PG, Shon J, Sickler B, Batzoglou S, Knudsen KE, He HH, Huang J, Wyatt AW, Dehm SM, Ashworth A, Chinnaiyan AM, Maher CA, Small EJ, Feng FY Cell 2018
  • Transduction with Lentiviral Vectors Altered the Expression Profile of Host MicroRNAs. (PMID: 29997205) Huang H, Zhang C, Wang B, Wang F, Pei B, Cheng C, Yang W, Zhao Z Journal of virology 2018
  • Natural Products for Drug Discovery in the 21st Century: Innovations for Novel Drug Discovery. (PMID: 29799486) Thomford NE, Senthebane DA, Rowe A, Munro D, Seele P, Maroyi A, Dzobo K International journal of molecular sciences 2018
  • A global transcriptional network connecting noncoding mutations to changes in tumor gene expression. (PMID: 29610481) Zhang W, Bojorquez-Gomez A, Velez DO, Xu G, Sanchez KS, Shen JP, Chen K, Licon K, Melton C, Olson KM, Yu MK, Huang JK, Carter H, Farley EK, Snyder M, Fraley SI, Kreisberg JF, Ideker T Nature genetics 2018
  • Developmental profiling of microRNAs in the human embryonic inner ear. (PMID: 29373586) Chadly DM, Best J, Ran C, Bruska M, Woźniak W, Kempisty B, Schwartz M, LaFleur B, Kerns BJ, Kessler JA, Matsuoka AJ PloS one 2018
  • Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families. (PMID: 28944239) Holzinger ER, Li Q, Parker MM, Hetmanski JB, Marazita ML, Mangold E, Ludwig KU, Taub MA, Begum F, Murray JC, Albacha-Hejazi H, Alqosayer K, Al-Souki G, Albasha Hejazi A, Scott AF, Beaty TH, Bailey-Wilson JE Molecular genetics & genomic medicine 2017
  • Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect. (PMID: 28830434) Rappaport N, Fishilevich S, Nudel R, Twik M, Belinky F, Plaschkes I, Stein TI, Cohen D, Oz-Levi D, Safran M, Lancet D Biomedical engineering online 2017

TGex

Selected citations:

  • Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes. (PMID: 31883676) Rinelli M, Agolini E, Milano GM, Russo I, Crocoli A, De Vito R, Di Giannatale A, Di Paolo PL, Novelli A Cancer genetics 2020
  • LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. (PMID: 30565850) Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A American journal of medical genetics. Part A 2019
  • Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. (PMID: 31219622) Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X Clinical genetics 2019
  • A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. (PMID: 30400883) Wang Q, Yang J, Liu Y, Li X, Luo F, Xie J BMC medical genetics 2018
  • Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. (PMID: 30809243) Suwinski P, Ong C, Ling MHT, Poh YM, Khan AM, Ong HS Frontiers in genetics 2019

All citations:

  • ALG12-CDG: novel glycophenotype insights endorse the molecular defect. (PMID: 31529350) Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R Glycoconjugate journal 2019
  • Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children. (PMID: 31717729) Yao R, Yu T, Xu Y, Yu L, Wang J, Wang X, Wang J, Shen Y Genes 2019
  • Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. (PMID: 31727177) Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R Orphanet journal of rare diseases 2019
  • Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. (PMID: 31727123) Liu J, Hu XY, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP BMC medical genetics 2019
  • Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers. (PMID: 31786483) Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P International journal of pediatric otorhinolaryngology 2020
  • Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes. (PMID: 31883676) Rinelli M, Agolini E, Milano GM, Russo I, Crocoli A, De Vito R, Di Giannatale A, Di Paolo PL, Novelli A Cancer genetics 2020
  • A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. (PMID: 31890031) Hu X, Liu J, Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C Molecular cytogenetics 2019
  • Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. (PMID: 31942680) Yao R, Zhang Y, Liu J, Wang J, Xu Y, Li N, Wang J, Yu T Journal of molecular neuroscience : MN 2020
  • Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature. (PMID: 32184942) Piazzolla M, Castellaneta N, Novelli A, Agolini E, Cocciadiferro D, Resta L, Duda L, Barone M, Ierardi E, Di Leo A World journal of hepatology 2020
  • Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship. (PMID: 32160656) Lu W, Liang M, Su J, Wang J, Li L, Zhang S, Qin Z, Huang L, Lu Y, Yi S, Yi S, Xie B, Zheng H, Luo J, Gao X, Shen Y Molecular genetics & genomic medicine 2020
  • A novel variant of IHH in a Chinese family with brachydactyly type 1. (PMID: 32209048) Yang Q, Wang J, Tian X, Shen F, Lan J, Zhang Q, Fan X, Yi S, Li M, Shen Y BMC medical genetics 2020
  • Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes. (PMID: 31107726) Gilad O, Rosner G, Fliss-Isakov N, Aharon-Kaspi S, Strul H, Gluck N, Kariv R Clinical and translational gastroenterology 2019
  • Computational resources associating diseases with genotypes, phenotypes and exposures. (PMID: 30102366) Zhang W, Zhang H, Yang H, Li M, Xie Z, Li W Briefings in bioinformatics 2019
  • LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. (PMID: 30565850) Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A American journal of medical genetics. Part A 2019
  • Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease. (PMID: 30034773) Gambardella S, Ferese R, Scala S, Carboni S, Biagioni F, Giardina E, Zampatti S, Modugno N, Fabbiano F, Fornai F, Centonze D, Ruggieri S Parkinson's disease 2018
  • Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder. (PMID: 30893510) Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y American journal of medical genetics. Part C, Seminars in medical genetics 2019
  • Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. (PMID: 30561154) Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E American journal of medical genetics. Part A 2019
  • Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. (PMID: 29475819) Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018
  • Can molecular profiling enhance radiotherapy? Impact of personalized targeted gold nanoparticles on radiosensitivity and imaging of adenoid cystic carcinoma. (PMID: 29109791) Hazkani I, Motiei M, Betzer O, Sadan T, Bragilovski D, Lubimov L, Mizrachi A, Hadar T, Levi M, Ben-Aharon I, Haviv I, Popovtzer R, Popovtzer A Theranostics 2017
  • Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. (PMID: 31219622) Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X Clinical genetics 2019
  • De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. (PMID: 31382906) Jiang Y, Sun H, Lin Q, Wang Z, Wang G, Wang J, Jiang F, Yao R BMC medical genetics 2019
  • A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. (PMID: 30400883) Wang Q, Yang J, Liu Y, Li X, Luo F, Xie J BMC medical genetics 2018
  • Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. (PMID: 30809243) Suwinski P, Ong C, Ling MHT, Poh YM, Khan AM, Ong HS Frontiers in genetics 2019

VarElect

Selected citations:

  • Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome. (PMID: 25335910) Oz-Levi D, Weiss B, Lahad A, Greenberger S, Pode-Shakked B, Somech R, Olender T, Tatarsky P, Marek-Yagel D, Pras E, Anikster Y, Lancet D Clinical genetics 2015
  • A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. (PMID: 30400883) Wang Q, Yang J, Liu Y, Li X, Luo F, Xie J BMC medical genetics 2018
  • Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing. (PMID: 31053788) Tomar S, Sethi R, Lai PS European journal of human genetics : EJHG 2019
  • Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. (PMID: 31911611) Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M Journal of human genetics 2020

All citations:

  • Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome. (PMID: 25335910) Oz-Levi D, Weiss B, Lahad A, Greenberger S, Pode-Shakked B, Somech R, Olender T, Tatarsky P, Marek-Yagel D, Pras E, Anikster Y, Lancet D Clinical genetics 2015
  • Mining Exosomal Genes for Pancreatic Cancer Targets. (PMID: 28446531) Makler A, Narayanan R Cancer genomics & proteomics 2017
  • Differential analysis of mutations in the Jewish population and their implications for diseases. (PMID: 28502252) Einhorn Y, Weissglas-Volkov D, Carmi S, Ostrer H, Friedman E, Shomron N Genetics research 2017
  • Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. (PMID: 26661508) Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN Clinical genetics 2016
  • Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin. (PMID: 28967629) Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018
  • Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology. (PMID: 28049716) Amorim IS, Graham LC, Carter RN, Morton NM, Hammachi F, Kunath T, Pennetta G, Carpanini SM, Manson JC, Lamont DJ, Wishart TM, Gillingwater TH Journal of cell science 2017
  • TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. (PMID: 26542466) Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016
  • Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. (PMID: 28601681) Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M The Journal of allergy and clinical immunology 2018
  • Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. (PMID: 26690675) Luzón-Toro B, Bleda M, Navarro E, García-Alonso L, Ruiz-Ferrer M, Medina I, Martín-Sánchez M, Gonzalez CY, Fernández RM, Torroglosa A, Antiñolo G, Dopazo J, Borrego S BMC medical genomics 2015
  • Clinically proven drug targets differentially expressed in the prefrontal cortex of schizophrenia patients. (PMID: 27940260) Voisey J, Mehta D, McLeay R, Morris CP, Wockner LF, Noble EP, Lawford BR, Young RM Brain, behavior, and immunity 2017
  • Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland. (PMID: 27109316) Zhang L, Jia Z, Mao F, Shi Y, Bu RF, Zhang B Oncology reports 2016
  • Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia. (PMID: 30144020) Azim MK, Mehnaz A, Ahmed JZ, Mujtaba G CEN case reports 2019
  • Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease. (PMID: 26879676) Enguix-Riego MV, Torroglosa A, Fernández RM, Moya-Jiménez MJ, de Agustín JC, Antiñolo G, Borrego S Scientific reports 2016
  • Identifying miRNA regulatory mechanisms in preeclampsia by systems biology approaches. (PMID: 27835046) Biró O, Nagy B, Rigó J Hypertension in pregnancy 2017
  • Role of rare germline copy number variation in melanoma-prone patients. (PMID: 27020340) Fidalgo F, Rodrigues TC, Silva AG, Facure L, de Sá BC, Duprat JP, Achatz MI, Rosenberg C, Carraro DM, Krepischi AC Future oncology (London, England) 2016
  • Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation. (PMID: 26462458) Butler MG, McGuire AB, Masoud H, Manzardo AM American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2016
  • Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. (PMID: 30174453) Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SA, Bertola DR, Otto PA, Rosenberg C The application of clinical genetics 2018
  • Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. (PMID: 28050010) Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C Scientific reports 2017
  • Transcriptomic Analysis of the Host Response and Innate Resilience to Enterotoxigenic Escherichia coli Infection in Humans. (PMID: 26787651) Yang WE, Suchindran S, Nicholson BP, McClain MT, Burke T, Ginsburg GS, Harro CD, Chakraborty S, Sack DA, Woods CW, Tsalik EL The Journal of infectious diseases 2016
  • Enrichment of in vivo transcription data from dietary intervention studies with in vitro data provides improved insight into gene regulation mechanisms in the intestinal mucosa. (PMID: 28413565) Hulst M, Jansman A, Wijers I, Hoekman A, Vastenhouw S, van Krimpen M, Smits M, Schokker D Genes & nutrition 2017
  • A Novel Peptide for Simultaneously Enhanced Treatment of Head and Neck Cancer and Mitigation of Oral Mucositis. (PMID: 27049860) Chen P, Mancini M, Sonis ST, Fernandez-Martinez J, Liu J, Cohen EE, Toback FG PloS one 2016
  • Computational resources associating diseases with genotypes, phenotypes and exposures. (PMID: 30102366) Zhang W, Zhang H, Yang H, Li M, Xie Z, Li W Briefings in bioinformatics 2019
  • Cell-type-specific metabolic labeling of nascent proteomes in vivo. (PMID: 29106408) Alvarez-Castelao B, Schanzenbächer CT, Hanus C, Glock C, Tom Dieck S, Dörrbaum AR, Bartnik I, Nassim-Assir B, Ciirdaeva E, Mueller A, Dieterich DC, Tirrell DA, Langer JD, Schuman EM Nature biotechnology 2017
  • Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases. (PMID: 32500119) Zhao M, Havrilla JM, Fang L, Chen Y, Peng J, Liu C, Wu C, Sarmady M, Botas P, Isla J, Lyon GJ, Weng C, Wang K NAR genomics and bioinformatics 2020
  • VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy. (PMID: 32365420) Marcos AT, Martín-Doncel E, Morejón-García P, Marcos-Alcalde I, Gómez-Puertas P, Segura-Puimedon M, Armengol L, Navarro-Pando JM, Lazo PA Annals of clinical and translational neurology 2020
  • PRIORI-T: A tool for rare disease gene prioritization using MEDLINE. (PMID: 32315351) Rao A, Joseph T, Saipradeep VG, Kotte S, Sivadasan N, Srinivasan R PloS one 2020
  • Gene-Focused Networks Underlying Phenotypic Convergence in a Systematically Phenotyped Cohort With Heterogeneous Intellectual Disability. (PMID: 32117926) Wang Y, Zhu LN, Ma XW, Yang F, Xu XL, Yang Y, Yang X, Peng W, Zhang WQ, Liang JY, Zhu WD, Jiang TJ, Zhang XL, Feng ZC Frontiers in bioengineering and biotechnology 2020
  • Exploring genetic targets of psoriasis using genome wide association studies (GWAS) for drug repurposing. (PMID: 31988837) Nanda H, Ponnusamy N, Odumpatta R, Jeyakanthan J, Mohanapriya A 3 Biotech 2020
  • Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. (PMID: 31947757) Pereira R, Oliveira J, Sousa M Journal of clinical medicine 2020
  • Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing. (PMID: 31934596) Raj RK, Dhoble P, Anjanamurthy R, Chermakani P, Kumaran M, Devarajan B, Sundaresan P Eye and vision (London, England) 2020
  • Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. (PMID: 31911611) Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M Journal of human genetics 2020
  • Genome analysis and knowledge-driven variant interpretation with TGex. (PMID: 31888639) Dahary D, Golan Y, Mazor Y, Zelig O, Barshir R, Twik M, Iny Stein T, Rosner G, Kariv R, Chen F, Zhang Q, Shen Y, Safran M, Lancet D, Fishilevich S BMC medical genomics 2019
  • Systematic Elucidation of the Mechanism of Genistein against Pulmonary Hypertension via Network Pharmacology Approach. (PMID: 31703458) Chen Y, Chen D, Liu S, Yuan T, Guo J, Fang L, Du G International journal of molecular sciences 2019
  • Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. (PMID: 31680375) Pal LR, Kundu K, Yin Y, Moult J Human mutation 2020
  • Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report. (PMID: 31510946) Li M, Chen W, Sun X, Wang Z, Zou X, Wei H, Wang Z, Chen W BMC medical genetics 2019
  • De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. (PMID: 31382906) Jiang Y, Sun H, Lin Q, Wang Z, Wang G, Wang J, Jiang F, Yao R BMC medical genetics 2019
  • The Cancer Genome Atlas dataset-based analysis of aberrantly expressed genes by GeneAnalytics in thymoma associated myasthenia gravis: focusing on T cells. (PMID: 31372268) Xi J, Wang L, Yan C, Song J, Song Y, Chen J, Zhu Y, Chen Z, Jin C, Ding J, Zhao C Journal of thoracic disease 2019
  • Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing. (PMID: 31053788) Tomar S, Sethi R, Lai PS European journal of human genetics : EJHG 2019
  • GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes. (PMID: 30866437) Gabrielli AP, Manzardo AM, Butler MG International journal of molecular sciences 2019
  • Gaze Palsy, Sleep and Gait Disorder, as Well as Tako-Tsubo Syndrome in a Patient with IgLON5 Antibodies. (PMID: 30838275) Montojo T, Piren V, Benkhadra F, Codreanu A, Diederich NJ Movement disorders clinical practice 2017
  • Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. (PMID: 30809243) Suwinski P, Ong C, Ling MHT, Poh YM, Khan AM, Ong HS Frontiers in genetics 2019
  • Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach. (PMID: 30710087) Michaelovsky E, Carmel M, Frisch A, Salmon-Divon M, Pasmanik-Chor M, Weizman A, Gothelf D Translational psychiatry 2019
  • A review of innate and adaptive immunity to coccidioidomycosis. (PMID: 30690602) Hung CY, Hsu AP, Holland SM, Fierer J Medical mycology 2019
  • MYORG is associated with recessive primary familial brain calcification. (PMID: 30656188) Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V Annals of clinical and translational neurology 2019
  • A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. (PMID: 30400883) Wang Q, Yang J, Liu Y, Li X, Luo F, Xie J BMC medical genetics 2018
  • Combining multi-OMICs information to identify key-regulator genes for pleiotropic effect on fertility and production traits in beef cattle. (PMID: 30335783) Fonseca PAS, Id-Lahoucine S, Reverter A, Medrano JF, Fortes MS, Casellas J, Miglior F, Brito L, Carvalho MRS, Schenkel FS, Nguyen LT, Porto-Neto LR, Thomas MG, Cánovas A PloS one 2018
  • Identification and replication of RNA-Seq gene network modules associated with depression severity. (PMID: 30185774) Le TT, Savitz J, Suzuki H, Misaki M, Teague TK, White BC, Marino JH, Wiley G, Gaffney PM, Drevets WC, McKinney BA, Bodurka J Translational psychiatry 2018
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