Publications in DiVA – Niklas Dahl

  • Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne-Sophie et al.

    A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

    Part of Clinical Genetics, p. 318-324, 2021.

    Open access
  • Reimegård, Johan; Tarbier, Marcel; Danielsson, Marcus; Schuster, Jens et al.

    A combined approach for single-cell mRNA and intracellular protein expression analysis

    Part of Communications Biology, 2021.

    Open access
  • Vasylovska, Svitlana; Schuster, Jens; Brboric, Anja; Carlsson, Per-Ola et al.

    Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors

    Part of Stem Cell Research, 2021.

    Open access
  • Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko et al.

    Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

    Part of American Journal of Human Genetics, p. 739-748, 2021.

    Open access
  • Akram, Talia; Fatima, Ambrin; Klar, Joakim; Hoeber, Jan et al.

    Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

    Part of International Journal of Hematology, p. 894-899, 2020.

  • Ghaderi Berntsson, Shala; Kristoffersson, Anna; Daniilidou, Makrina; Dahl, Niklas et al.

    Aniridia with PAX6 mutations and narcolepsy

    Part of Journal of Sleep Disorders, 2020.

  • Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam et al.

    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Part of Brain, p. 2929-2944, 2020.

    Open access
  • Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

    DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

    Part of Clinical Epigenetics, 2020.

    Open access
  • Fatima, Ambrin; Schuster, Jens; Akram, Talia; Sobol, Maria et al.

    Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

    Part of Stem Cell Research, 2020.

    Open access
  • Schuster, Jens; Hoeber, Jan; Sobol, Maria; Fatima, Ambrin et al.

    Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

    Part of Stem Cell Research, 2020.

    Open access
  • Fatima, Ambrin; Schuster, Jens; Akram, Talia; Gonzalez, Carolina Maya et al.

    Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9

    Part of Stem Cell Research, 2020.

    Open access
  • Niemelä, Valter; Salih, Ammar; Solea, Daniela; Lindvall, Bjoern et al.

    Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

    Part of NEUROLOGY-GENETICS, 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
  • Kvarnung, Malin; Shahsavani, Mansoureh; Taylan, Fulya; Moslem, Mohsen et al.

    Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

    Part of Frontiers in Genetics, 2019.

    Open access
  • Schuster, Jens; Fatima, Ambrin; Schwarz, Franziska; Klar, Joakim et al.

    Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

    Part of Stem Cell Research, 2019.

    Open access
  • Schuster, Jens; Fatima, Ambrin; Sobol, Maria; Noraddin, Feria Hikmet et al.

    Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

    Part of Stem Cell Research, 2019.

    Open access
  • Schuster, Jens; Sobol, Maria; Fatima, Ambrin; Khalfallah, Ayda et al.

    Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

    Part of Stem Cell Research, 2019.

    Open access
  • Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikström, Johan et al.

    Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

    Part of Human Mutation, p. 899-903, 2019.

  • Lam, Matti; Moslem, Mohsen; Bryois, Julien; Pronk, Robin J. et al.

    Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality

    Part of Experimental Cell Research, 2019.

    Open access
  • Sobol, Maria; Klar, Joakim; Laan, Loora; Shahsavani, Mansoureh et al.

    Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

    Part of Molecular Neurobiology, p. 7113-7127, 2019.

    Open access
  • Schuster, Jens; Laan, Loora; Klar, Joakim; Jin, Zhe et al.

    Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

    Part of Neurobiology of Disease, 2019.

    Open access
  • Zulfiqar, Shumaila; Tariq, Muhammad; Ali, Zafar; Fatima, Ambrin et al.

    Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

    Part of Journal of clinical neuroscience, p. 19-23, 2019.

  • Shahsavani, M; Pronk, R J; Falk, R; Lam, M et al.

    An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

    Part of Molecular Psychiatry, p. 1674-1684, 2018.

  • Wang, Sheng; Mandell, Jeffrey D.; Kumar, Yogesh; Sun, Nawei et al.

    De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

    Part of Cell reports, p. 3441-+, 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.

  • 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
  • Frykholm, Carina; Klar, Joakim; Tomanovic, Tatjana; Ameur, Adam et al.

    Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

    Part of European Journal of Human Genetics, p. 1871-1874, 2018.

  • Klar, Joakim; Ali, Zafar; Farooq, Muhammad; Khan, Kamal et al.

    A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

    Part of European Journal of Human Genetics, p. 848-853, 2017.

  • Klar, Joakim; Piontek, Jörg; Milatz, Susanne; Tariq, Muhammad et al.

    Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

    Part of PLoS Genetics, 2017.

    Open access
  • Ali, Zafar; Zulfiqar, Shumaila; Klar, Joakim; Wikström, Johan et al.

    Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

    Part of BMC Medical Genetics, 2017.

    Open access
  • Angsten, Gertrud; Gustafson, Elisabet; Dahl, Niklas; Christofferson, Rolf H.

    Resolution of infantile intestinal pseudo-obstruction in a boy

    Part of Journal of Pediatric Surgery Case Reports, p. 28-34, 2017.

    Open access
  • Stattin, Evalena; Henning, Petra; Klar, Joakim; McDermott, Emma et al.

    SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

    Part of Scientific Reports, 2017.

    Open access
  • Bergendal, Birgitta; Norderyd, Johanna; Zhou, Xiaolei; Klar, Joakim et al.

    Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

    Part of BMC Medical Genetics, 2016.

    Open access
  • Halim, Danny; Hofstra, Robert M. W.; Signorile, Luca; Verdijk, Rob M. et al.

    ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

    Part of Human Molecular Genetics, p. 571-583, 2016.

  • Kele, Malin; Day, Kelly; Ronnholm, Harriet; Schuster, Jens et al.

    Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions

    Part of Stem Cell Research, p. 474-478, 2016.

    Open access
  • Ali, Zafar; Klar, Joakim; Jameel, Mohammad; Khan, Kamal et al.

    Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

    Part of Journal of the Neurological Sciences, p. 105-111, 2016.

  • Finnsson, Johannes; Sundblom, Jimmy; Dahl, Niklas; Melberg, Atle et al.

    LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

    Part of Annals of Neurology, p. 412-25, 2015.

    Open access
  • Sobol, Maria; Raykova, Doroteya; Cavelier, Lucia; Khalfallah, Ayda et al.

    Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage

    Part of Stem Cells and Development, p. 2032-2040, 2015.

  • Wilbe, Maria; Ekvall, Sara; Eurenius, Karin; Ericson, Katharina et al.

    MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

    Part of Journal of Medical Genetics, p. 195-202, 2015.

  • Klar, Joakim; Raykova, Doroteya; Gustafson, Elisabet; Tóthová, Iveta et al.

    Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

    Part of European Journal of Human Genetics, p. 1679-1683, 2015.

  • Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin et al.

    Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

    Part of Gene, p. 10-16, 2015.

  • 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; Schuster, Jens; Khan, Tahir Naeem; Jameel, Muhammad et al.

    Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

    Part of Journal of Medical Genetics, p. 599-606, 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.

  • Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad; Moawia, Abubakar et al.

    A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

    Part of BMC Medical Genetics, p. 133-, 2014.

    Open access
  • Raykova, Doroteya; Klar, Joakim; Azhar, Aysha; Khan, Tahir Naeem et al.

    Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

    Part of PLOS ONE, p. e93607-, 2014.

    Open access
  • Kilander, Michaela B. C.; Petersen, Julian; Andressen, Kjetil Wessel; Ganji, Ranjani Sri et al.

    Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

    Part of The FASEB Journal, p. 2293-2305, 2014.

  • Khan, Tahir Naeem; Klar, Joakim; Tariq, Muhammad; Baig, Shehla Anjum et al.

    Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

    Part of European Journal of Human Genetics, p. 1180-1184, 2014.

  • Klar, Joakim; Khalfallah, Ayda; Arzoo, Pakeeza Shaiq; Gazda, Hanna T. et al.

    Recurrent GATA1 mutations in Diamond-Blackfan anaemia

    Part of British Journal of Haematology, p. 949-951, 2014.

  • Arzoo, Pakeeza Shaiq; Klar, Joakim; Bergendal, Birgitta; Norderyd, Johanna et al.

    WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations

    Part of American Journal of Medical Genetics. Part A, p. 353-359, 2014.