Publications in DiVA – Lars Feuk

  • Zaghlool, Ammar; Niazi, Adnan; Björklund, Åsa K.; Orzechowski Westholm, Jakub et al.

    Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts

    Part of Scientific Reports, 2021.

    Open access
  • Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A. et al.

    DLG4-related synaptopathy: a new rare brain disorder

    Part of Genetics in Medicine, p. 888-899, 2021.

  • Eisfeldt, Jesper; Pettersson, Maria; Petri, Anna; Nilsson, Daniel et al.

    Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

    Part of Human Genetics, p. 775-790, 2021.

    Open access
  • Garbulowski, Mateusz; Smolinska Garbulowska, Karolina; Diamanti, Klev; Pan, Gang et al.

    Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder

    Part of Frontiers in Genetics, 2021.

    Open access
  • Garbulowski, Mateusz; Diamanti, Klev; Smolinska, Karolina; Baltzer, Nicholas et al.

    R.ROSETTA: an interpretable machine learning framework

    Part of BMC Bioinformatics, 2021.

    Open access
  • Lindholm Carlström, Eva; Niazi, Adnan; Etemadikhah, Mitra; Halvardson, Jonatan et al.

    Transcriptome analysis of post-mortem brain tissue reveals up-regulation of the complement cascade in a subgroup of schizophrenia patients

    Part of Genes, 2021.

    Open access
  • Höijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan et al.

    Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

    Part of Genome Biology, 2020.

    Open access
  • Fatima, Nazeefa; Petri, Anna; Gyllensten, Ulf; Feuk, Lars et al.

    Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes

    Part of Genes, 2020.

    Open access
  • Just, David; Manberg, Anna; Mitsios, Nicholas; Stockmeier, Craig A. et al.

    Exploring autoantibody signatures in brain tissue from patients with severe mental illness

    Part of Translational Psychiatry, 2020.

    Open access
  • Ramos, Jillian; Proven, Melissa; Halvardson, Jonatan; Hagelskamp, Felix et al.

    Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder

    Part of RNA, p. 1654-1666, 2020.

    Open access
  • Etemadikhah, Mitra; Niazi, Adnan; Wetterberg, Lennart; Feuk, Lars

    Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes

    Part of Scientific Reports, 2020.

    Open access
  • Klar, Joakim; Engstrand-Lilja, Helene; Maqbool, Khurram; Mattisson, Jonas et al.

    Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

    Part of BMC Medical Genomics, 2020.

    Open access
  • Moghadam, Behrooz Torabi; Etemadikhah, Mitra; Rajkowska, Grazyna; Stocluneier, Craig et al.

    Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods

    Part of Journal of Psychiatric Research, p. 41-47, 2019.

  • Shebanits, Kateryna; Günther, Torsten; Johansson, Anna C. V.; Maqbool, Khurram et al.

    Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR.

    Part of BMC Biotechnology, 2019.

    Open access
  • Lindholm Carlström, Eva; Halvardson, Jonatan; Etemadikhah, Mitra; Wetterberg, Lennart et al.

    Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

    Part of BMC Medical Genomics, 2019.

    Open access
  • Johansson, Martin; Pottmeier, Philipp; Suciu, Pascalina; Ahmed, Tauseef et al.

    Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development

    Part of Frontiers in Genetics, 2019.

    Open access
  • Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

    Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

    Part of Clinical Genetics, p. 436-439, 2019.

    Open access
  • Shebanits, Kateryna; Andersson-Assarsson, Johanna C.; Larsson, Ingrid; Carlsson, Lena M. S. et al.

    Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference

    Part of PLOS ONE, 2018.

    Open access
  • Ameur, Adam; Che, Huiwen; Martin, Marcel; Bunikis, Ignas et al.

    De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

    Part of Genes, 2018.

    Open access
  • Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

    Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

    Part of Human Mutation, p. 1262-1272, 2018.

    Open access
  • Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

    Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

    Part of American Journal of Medical Genetics Part B, p. 10-20, 2018.

    Open access
  • Zaghlool, Ammar; Ameur, Adam; Wu, Chenglin; Westholm, Jakub Orzechowski et al.

    Expression profiling and in situ screening of circular RNAs in human tissues

    Part of Scientific Reports, 2018.

    Open access
  • Kuderna, Lukas F. K.; Tomlinson, Chad; Hillier, LaDeana W.; Tran, Annabel et al.

    A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)

    Part of GigaScience, p. 1-6, 2017.

  • Zhao, Jin James; Halvardson, Jonatan; Knaus, Alexej; Georgii-Hemming, Patrik et al.

    Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

    Part of Human Mutation, p. 1394-1401, 2017.

    Open access
  • Ameur, Adam; Dahlberg, Johan; Olason, Pall; Vezzi, Francesco et al.

    SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

    Part of European Journal of Human Genetics, p. 1253-1260, 2017.

    Open access
  • Zaghlool, Ammar; Halvardson, Jonatan; Zhao, Jin J.; Etemadikhah, Mitra et al.

    A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment

    Part of Human Mutation, p. 964-975, 2016.

    Open access
  • Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

    Mutations in HECW2 are associated with intellectual disability and epilepsy

    Part of Journal of Medical Genetics, p. 697-704, 2016.

    Open access
  • Magnusson, Patrik K. E.; Lee, Donghwan; Chen, Xu; Szatkiewicz, Jin et al.

    One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins

    Part of Twin Research and Human Genetics, p. 97-103, 2016.

  • Johansson, Martin; Lundin, Elin; Qian, Xiaoyan; Mirzazadeh, Mohammadreza et al.

    Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

    Part of Biology of Sex Differences, 2016.

    Open access
  • Schuster, Jens; Halvardson, Jonatan; Lorenzo, Laureanne Pilar; Ameur, Adam et al.

    Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

    Part of Cellular Reprogramming, p. 327-337, 2015.

  • Klar, Joakim; Hisatsune, Chihiro; Baig, Shahid M.; Tariq, Muhammad et al.

    Abolished InsP3R2 function inhibits sweat secretion in both humans and mice

    Part of Journal of Clinical Investigation, p. 4773-4780, 2014.

  • Spiegel, Ronen; Saada, Ann; Halvardson, Jonatan; Soiferman, Devorah et al.

    Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

    Part of European Journal of Human Genetics, p. 902-906, 2014.

  • Zaghlool, Ammar; Ameur, Adam; Cavelier, Lucia; Feuk, Lars

    Splicing in the Human Brain

    Part of Brain Transcriptome, p. 95-125, 2014.

  • MacDonald, Jeffrey R.; Ziman, Robert; Yuen, Ryan K. C.; Feuk, Lars et al.

    The Database of Genomic Variants: a curated collection of structural variation in the human genome

    Part of Nucleic Acids Research, p. D986-D992, 2014.

  • Zaghlool, Ammar; Ameur, Adam; Nyberg, Linnea; Halvardson, Jonatan et al.

    Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues

    Part of BMC Biotechnology, p. 99-, 2013.

    Open access
  • Halvardson, Jonatan; Zaghlool, Ammar; Feuk, Lars

    Exome RNA sequencing reveals rare and novel alternative transcripts

    Part of Nucleic Acids Research, p. e6-, 2013.

  • Chen, Dan; Juko-Pecirep, Ivana; Hammer, Joanna; Ivansson, Emma et al.

    Genome-wide Association Study of Susceptibility Loci for Cervical Cancer

    Part of Journal of the National Cancer Institute, p. 624-633, 2013.

  • Pang, Andy Wing Chun; Migita, Ohsuke; MacDonald, Jeffrey R.; Feuk, Lars et al.

    Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

    Part of Human Mutation, p. 345-354, 2013.

  • Radomska, Katarzyna J.; Halvardson, Jonatan; Reinius, Björn; Carlström, Eva Lindholm et al.

    RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes

    Part of Human Molecular Genetics, p. 1373-1382, 2013.

  • Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin et al.

    Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

    Part of Human Mutation, p. 572-577, 2013.

  • de Leeuw, Nicole; Dijkhuizen, Trijnie; Hehir-Kwa, Jayne Y.; Carter, Nigel P. et al.

    Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources

    Part of Human Mutation, p. 930-940, 2012.

  • Ameur, Adam; Enroth, Stefan; Johansson, Åsa; Zaboli, Ghazal et al.

    Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

    Part of American Journal of Human Genetics, p. 809-820, 2012.

  • Hooper, Sean D.; Johansson, Anna C. V.; Tellgren-Roth, Christian; Stattin, Eva-Lena et al.

    Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

    Part of BMC Medical Genetics, p. 123-, 2012.

    Open access
  • Spiegel, Konen; Pines, Ophry; Ta-Shma, Asaf; Burak, Efrat et al.

    Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

    Part of American Journal of Human Genetics, p. 518-523, 2012.

  • Berger, Itai; Dor, Talya; Halvardson, Jonatan; Edvardson, Simon et al.

    Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

    Part of Epilepsia, p. 1436-1440, 2012.

  • Johansson, Anna C. V.; Feuk, Lars

    Characterization of Copy Number-Stable Regions in the Human Genome

    Part of Human Mutation, p. 947-955, 2011.

  • Pinto, Dalila; Darvishi, Katayoon; Shi, Xinghua; Rajan, Diana et al.

    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

    Part of Nature Biotechnology, p. 512-521, 2011.

  • Ameur, Adam; Zaghlool, Ammar; Halvardson, Jonatan; Wetterbom, Anna et al.

    Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

    Part of Nature Structural & Molecular Biology, p. 1435-1440, 2011.

  • Miller, David T.; Adam, Margaret P.; Aradhya, Swaroop; Biesecker, Leslie G. et al.

    Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    Part of American Journal of Human Genetics, p. 749-764, 2010.

  • Ameur, Adam; Wetterbom, Anna; Feuk, Lars; Gyllensten, Ulf

    Global and unbiased detection of splice junctions from RNA-seq data

    Part of Genome Biology, p. R34-, 2010.

  • Wetterbom, Anna; Ameur, Adam; Feuk, Lars; Gyllensten, Ulf et al.

    Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing

    Part of Genome Biology, p. R78-, 2010.

  • Feuk, Lars

    Inversion variants in the human genome: role in disease and genome architecture

    Part of Genome Medicine, 2010.

    Open access
  • Rafiq, M. A.; Ansar, M.; Marshall, C. R.; Noor, A. et al.

    Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

    Part of Clinical Genetics, p. 478-483, 2010.

  • Conrad, Donald F.; Pinto, Dalila; Redon, Richard; Feuk, Lars et al.

    Origins and functional impact of copy number variation in the human genome

    Part of Nature, p. 704-712, 2010.

  • Church, Deanna M.; Lappalainen, Ilkka; Sneddon, Tam P.; Hinton, Jonathan et al.

    Public data archives for genomic structural variation

    Part of Nature Genetics, p. 813-814, 2010.

  • Pang, Andy W.; MacDonald, Jeffrey R.; Pinto, Dalila; Wei, John et al.

    Towards a comprehensive structural variation map of an individual human genome

    Part of Genome biology, p. R52-, 2010.

  • Birney, Ewan; Hudson, Thomas J.; Green, Eric D.; Gunter, Chris et al.

    Prepublication data sharing

    Part of Nature, p. 168-170, 2009.

Last modified: 2021-11-08