Publications in DiVA – Niklas Dahl

Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs

Stattin, Evalena; Hagström, Emil; Dahl, Niklas; Strömsöe, Anneli et al.

Part of BMJ Open, 2022.

DOI for Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs Download full text (pdf) of Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

van Dooijeweert, Birgit; Kia, Sima Kheradmand; Dahl, Niklas; Fenneteau, Odile et al.

Part of Genes, 2022.

DOI for GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease Download full text (pdf) of GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Schuster, Jens; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas

Part of Stem Cell Research, 2022.

DOI for Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2 Download full text (pdf) of Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Fineschi, Serena; Klar, Joakim; Gustafsson, Kristin Ayoola; Jonsson, Kent et al.

Part of Frontiers in Immunology, 2022.

DOI for Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia Download full text (pdf) of Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

Schuy, Jakob; Eisfeldt, Jesper; Pettersson, Maria; Shahrokhshahi, Niloofar et al.

Part of Frontiers in Genetics, 2022.

DOI for Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model Download full text (pdf) of Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

Schuster, Jens; Klar, Joakim; Khalfallah, Ayda; Laan, Loora et al.

Part of Frontiers in Molecular Neuroscience, 2022.

DOI for ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function Download full text (pdf) of ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

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

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

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

DOI for A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome Download full text (pdf) of A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

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

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

Part of Communications Biology, 2021.

DOI for A combined approach for single-cell mRNA and intracellular protein expression analysis Download full text (pdf) of A combined approach for single-cell mRNA and intracellular protein expression analysis

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

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

Part of Stem Cell Research, 2021.

DOI for Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors Download full text (pdf) of Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

Zulfiqar, Shumaila; Tariq, Muhammad; Ramzan, Shafaq; Khan, Ayaz et al.

Part of Journal of clinical neuroscience, p. 8-12, 2021.

DOI for Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

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

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

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

DOI for Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy Download full text (pdf) of Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Schuster, Jens; de Guidi, Claudia; Fatima, Ambrin; Sobol, Maria et al.

Part of Stem Cell Research, 2021.

DOI for Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A Download full text (pdf) of Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

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

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

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

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

Aniridia with PAX6 mutations and narcolepsy

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

Part of Journal of Sleep Disorders, 2020.

DOI for Aniridia with PAX6 mutations and narcolepsy

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

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

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

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

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

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

Part of Clinical Epigenetics, 2020.

DOI for DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors Download full text (pdf) of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

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

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

Part of Stem Cell Research, 2020.

DOI for Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 Download full text (pdf) of Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

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

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

Part of Stem Cell Research, 2020.

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

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

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

Part of Stem Cell Research, 2020.

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

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

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

Part of NEUROLOGY-GENETICS, 2020.

DOI for Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations Download full text (pdf) of Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

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

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

Part of BMC Medical Genomics, 2020.

DOI for Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants Download full text (pdf) of Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

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

Kvarnung, Malin; Shahsavani, Mansoureh; Taylan, Fulya; Moslem, Mohsen et al.

Part of Frontiers in Genetics, 2019.

DOI for Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 Download full text (pdf) of Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

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

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

Part of Stem Cell Research, 2019.

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

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

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

Part of Stem Cell Research, 2019.

DOI for Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations Download full text (pdf) of Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

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

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

Part of Stem Cell Research, 2019.

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

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

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

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

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

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

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

Part of Experimental Cell Research, 2019.

DOI for Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality Download full text (pdf) of Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality

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

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

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

DOI for Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions Download full text (pdf) of Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

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

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

Part of Neurobiology of Disease, 2019.

DOI for Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment Download full text (pdf) of Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

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

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

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

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

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

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

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

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

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

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

Part of Cell reports, p. 3441-+, 2018.

DOI for De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Download full text (pdf) of De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

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

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

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

DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing Download full text (pdf) of Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

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

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

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

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

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

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

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

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

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

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

Part of PLOS Genetics, 2017.

DOI for Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage Download full text (pdf) of Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

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

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

Part of BMC Medical Genetics, 2017.

DOI for 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 Download full text (pdf) of 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

Resolution of infantile intestinal pseudo-obstruction in a boy

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

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

DOI for Resolution of infantile intestinal pseudo-obstruction in a boy Download full text (pdf) of Resolution of infantile intestinal pseudo-obstruction in a boy

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

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

Part of Scientific Reports, 2017.

DOI for SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Download full text (pdf) of SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

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

Part of BMC Medical Genetics, 2016.

DOI for Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency Download full text (pdf) of Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

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

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

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

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

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

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

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

DOI for Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions Download full text (pdf) of Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions

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

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

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

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

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

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

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

DOI for LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course Download full text (pdf) of LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

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

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

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

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

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

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

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

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

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

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

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

DOI for Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

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

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

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

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

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

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

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

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

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

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

Part of Journal of Medical Genetics, p. 599-606, 2015.

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

Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

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

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

DOI for Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

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

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

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

DOI for A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency Download full text (pdf) of A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

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

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

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

DOI for Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis Download full text (pdf) of Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

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

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

DOI for Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

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

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

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

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

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

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

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

DOI for Recurrent GATA1 mutations in Diamond-Blackfan anaemia

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

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

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

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

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth et al.

Part of Human Mutation, p. 1160-1171, 2013.

DOI for Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

Khan, Tahir Naeem; Klar, Joakim; Ali, Zafar; Khan, F. et al.

Part of European Journal of Medical Genetics, p. 371-374, 2013.

DOI for Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

Clinical utility gene card for: Diamond-Blackfan anemia--update 2013

Valchos, Adrianna; Dahl, Niklas; Dianzani, Irma; Lipton, Jeffrey M.

Part of European Journal of Human Genetics, 2013.

DOI for Clinical utility gene card for: Diamond-Blackfan anemia--update 2013 Download full text (pdf) of Clinical utility gene card for: Diamond-Blackfan anemia--update 2013

Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development

Cui, Chang-Yi; Klar, Joakim; Georgii-Heming, Patrik; Fröjmark, Anne-Sophie et al.

Part of Journal of Investigative Dermatology, p. 1990-1997, 2013.

DOI for Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development

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

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

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

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

A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

Azhar, Aysha; Tariq, Muhammad; Baig, Shahid Mahmood; Dahl, Niklas et al.

Part of EJD. European journal of dermatology, p. 464-466, 2012.

DOI for A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Tariq, M.; Azhar, A.; Baig, S. M.; Dahl, Niklas et al.

Part of Scientific Reports, p. 730-, 2012.

DOI for A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Differential expression of RPS19 5’UTR variants implicated in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Gidlöf, Olof; Schuster, Jens et al.

2012.

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

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

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

DOI for Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder Download full text (pdf) of Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

Dahlqvist, Johanna; Westermark, Gunilla T.; Vahlquist, Anders; Dahl, Niklas

Part of Archives of Dermatological Research, p. 377-386, 2012.

DOI for Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

Kvarnung, Malin; Lindstrand, Anna; Malmgren, Helena; Thastrom, Anders et al.

Part of American Journal of Medical Genetics. Part A, p. 1111-1117, 2012.

DOI for Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12

Nawaz, Sadia; Tariq, Muhammad; Ahmad, Ilyas; Malik, Naveed Altaf et al.

Part of EJD. European journal of dermatology, p. 178-181, 2012.

DOI for Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l)

Khan, Tahir Naeem; Klar, Joakim; Nawaz, Sadia; Jameel, Muhammad et al.

Part of BMC Medical Genetics, p. 120-, 2012.

DOI for Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l)

siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis

Dahlqvist, Johanna; Törmä, Hans; Badhai, Jitendra; Dahl, Niklas

Part of PLOS ONE, p. e29471-, 2012.

DOI for siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis Download full text (pdf) of siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis

5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.

Badhai, Jitendra; Schuster, Jens; Gidlöf, Olof; Dahl, Niklas

Part of PLOS ONE, p. e17672-, 2011.

DOI for 5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.

Clinical utility gene card for: Diamond Blackfan anemia

Vlachos, Adrianna; Dahl, Niklas; Dianzani, Irma; Lipton, Jeffrey M.

Part of European Journal of Human Genetics, 2011.

DOI for Clinical utility gene card for: Diamond Blackfan anemia

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Sobol, Maria; Dahl, Niklas; Klar, Joakim

Part of BMC Research Notes, p. 90-, 2011.

DOI for FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

Klar, Joakim; Blomstrand, Peter; Brunmark, Charlott; Badhai, Jitendra et al.

Part of Journal of Medical Genetics, p. 705-709, 2011.

DOI for Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Schuster, Jens; Sundblom, Jimmy; Thuresson, Ann-Charlotte; Hassin-Baer, Sharon et al.

Part of Neurogenetics, p. 65-72, 2011.

DOI for Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes

Bergendal, Birgitta; Klar, Joakim; Stecksén-Blicks, Christina; Norderyd, Johanna et al.

Part of American Journal of Medical Genetics Part A, p. 1616-1622, 2011.

DOI for Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes

Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Fröjmark, Anne-Sophie; Schuster, Jens; Sobol, Maria; Entesarian, Miriam et al.

Part of American Journal of Human Genetics, p. 852-860, 2011.

DOI for Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Re-evaluation of the dysequilibrium syndrome

Melberg, Atle; Örlén, Hanna; Raininko, Raili; Entesarian, Miriam et al.

Part of Acta Neurologica Scandinavica, p. 28-33, 2011.

DOI for Re-evaluation of the dysequilibrium syndrome

Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Nawaz, Sadia; Tariq, Muhammad; Azhar, Aysha; Rasool, Mahmood et al.

Part of Pakistan journal of medical sciences print, p. 686-689, 2011.

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

Farrar, Jason E.; Dahl, Niklas

Part of Seminars in hematology (Print), p. 124-135, 2011.

DOI for Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Stattin, Eva-Lena; Wiklund, Fredrik; Lindblom, Karin; Önnerfjord, Patrik et al.

Part of American Journal of Human Genetics, p. 126-137, 2010.

DOI for A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

Dahlqvist, Johanna; Klar, Joakim; Tiwari, Neha; Schuster, Jens et al.

Part of American Journal of Human Genetics, p. 596-603, 2010.

DOI for A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

Rasool, Mahmood; Nawaz, Sadia; Azhar, Aysha; Wajid, Muhammad et al.

Part of EJD. European journal of dermatology, p. 443-446, 2010.

DOI for Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers

Sundblom, Jimmy; Stålberg, Erik; Österdahl, Maria; Rücker, Franz et al.

Part of Muscle and Nerve, p. 751-757, 2010.

DOI for Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity

Fröjmark, Anne-Sophie; Badhai, Jitendra; Klar, Joakim; Thuveson, Maria et al.

Part of Journal of Molecular Medicine, p. 39-46, 2010.

DOI for Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity

Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

Schuster, Jens; Karlsson, Teresia; Karlström, Per-Olof; Poromaa, Inger Sundström et al.

Part of Reproductive Biology and Endocrinology, p. 58-, 2010.

DOI for Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

Gabriková, Dana; Frykholm, Carina; Friberg, Ulla; Lahsaee, Sara et al.

Part of Journal of Human Genetics, p. 834-837, 2010.

DOI for Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia

Schuster, Jens; Fröjmark, Anne-Sophie; Nilsson, Per; Badhai, Jitendra et al.

Part of Blood Cells, Molecules & Diseases, p. 23-28, 2010.

DOI for Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia

Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification

Bremer, Anna; Giacobini, MaiBritt; Nordenskjold, Magnus; Brondum-Nielsen, Karen et al.

Part of American journal of medical genetics. Part B, Neuropsychiatric genetics, p. 280-285, 2010.

DOI for Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification

Segmentella DNA-variationer driver genomets evolution. Ger nya infallsvinklar till förståelse av sjukdom och hälsa: [Segmental DNA variations impel the genome evolution. New approaches to the understanding of disease and health]

Dahl, Niklas

Part of Läkartidningen, p. 1138-1139, 2010.

Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

Razzaghian, Hamid Reza; Shahi, Mehdi Hayat; Forsberg, Lars A.; Diaz de Ståhl, Teresita et al.

Part of American Journal of Medical Genetics. Part A, p. 2595-2598, 2010.

DOI for Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

Boria, Ilenia; Garelli, Emanuela; Gazda, Hanna T.; Aspesi, Anna et al.

Part of Human Mutation, p. 1269-1279, 2010.

DOI for The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena et al.

Part of American Journal of Medical Genetics, p. 380-386, 2009.

DOI for A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population Download full text (pdf) of A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena et al.

Part of American Journal of Medical Genetics, p. 380-386, 2009.

DOI for A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population Download full text (pdf) of A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene

Stattin, Eva-Lena; Lindén, Bjarne; Lönnerholm, Torsten; Schuster, Jens et al.

Part of European Journal of Medical Genetics, p. 297-302, 2009.

DOI for Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

Carlsson, Göran; Elinder, Göran; Malmgren, Helena; Trebinska, Alicja et al.

Part of Pediatric Blood & Cancer, p. 1143-1146, 2009.

DOI for Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

Dahlqvist, Johanna; Orlén, Hanna; Matsson, Hans; Dahl, Niklas et al.

Part of Acta Orthopaedica, p. 711-715, 2009.

DOI for Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

Klar, Joakim; Schweiger, Martina; Zimmerman, Robert; Zechner, Rudolf et al.

Part of American Journal of Human Genetics, p. 248-253, 2009.

DOI for Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1

Jitkaew, Siriporn; Trebinska, Alicja; Grzybowska, Ewa; Carlsson, Göran et al.

Part of Journal of Biological Chemistry, p. 27827-27837, 2009.

DOI for N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1