Joakim Klar

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

Matsson, Hans; Söderhall, Cilla; Einarsdottir, Elisabet; Lamontagne, Maxime et al.

Part of BMC Pulmonary Medicine, 2016

• DOI for Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
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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

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

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Schuster, Jens; Khan, Tahir Naeem; Tariq, Muhammad; Shaiq, Pakeeza Arzoo et al.

Part of BMC Medical Genetics, 2014

• DOI for Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
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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

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster, Jens; Lu, Xi; Dang, Yonglong; Klar, Joakim et al.

Part of eLIFE, 2024

• DOI for Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad et al.

Part of Genes, 2023

• DOI for Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

Fagius, Jan; Klar, Joakim; Dahl, Niklas

Part of Clinical Autonomic Research, p. 421-432, 2023

• DOI for Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
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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
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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
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Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster, Jens; Lu, Xi; Dang, Yonglong; Klar, Joakim et al.

Part of eLIFE, 2024

• DOI for Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad et al.

Part of Genes, 2023

• DOI for Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

Fagius, Jan; Klar, Joakim; Dahl, Niklas

Part of Clinical Autonomic Research, p. 421-432, 2023

• DOI for Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
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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
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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
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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
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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
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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
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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
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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
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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

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
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Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

Clewemar, Pantelis; Hailer, Nils P.; Hailer, Yasmin; Klar, Joakim et al.

Part of Molecular Genetics & Genomic Medicine, 2019

• DOI for Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
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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

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

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
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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
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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
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Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

Tariq, M.; Khan, T. N.; Lundin, Lars; Jameel, M. et al.

Part of Clinical Genetics, p. 182-186, 2018

• DOI for Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

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

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
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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
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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.
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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.

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
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A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

Hannuksela, Matias; Stattin, Eva-Lena; Klar, Joakim; Ameur, Adam et al.

Part of BMC Medical Genetics, 2016

• DOI for A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
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Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

Matsson, Hans; Söderhall, Cilla; Einarsdottir, Elisabet; Lamontagne, Maxime et al.

Part of BMC Pulmonary Medicine, 2016

• DOI for Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
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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

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 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

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

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

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

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Schuster, Jens; Khan, Tahir Naeem; Tariq, Muhammad; Shaiq, Pakeeza Arzoo et al.

Part of BMC Medical Genetics, 2014

• DOI for Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
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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, 2014

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

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

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

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.

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

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

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)

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

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

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

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

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

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

Vascular endothelial growth factor B controls endothelial fatty acid uptake

Hagberg, Carolina E.; Falkevall, Annelie; Wang, Xun; Larsson, Erik et al.

Part of Nature, p. 917-921, 2010

• DOI for Vascular endothelial growth factor B controls endothelial fatty acid uptake

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

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

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

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

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
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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
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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

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Nawaz, Sadia; Klar, Joakim; Wajid, Muhammad; Aslam, Muhammad et al.

Part of European Journal of Human Genetics, p. 1600-1605, 2009

• DOI for WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Alpha-cardiac actin mutations produce atrial septal defects

Matsson, Hans; Eason, Jacqueline; Bookwalter, Carol S.; Klar, Joakim et al.

Part of Human Molecular Genetics, p. 256-265, 2008

• DOI for Alpha-cardiac actin mutations produce atrial septal defects

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

Dahlqvist, Johanna; Klar, Joakim; Hausser, I; Anton-Lamprecht, I et al.

Part of Journal of Medical Genetics, p. 615-620, 2007

• DOI for Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

Melin, Malin; Klar, Joakim; Gedde-Dahl Jr., T.; Fredriksson, Robert et al.

Part of Journal of Human Genetics, p. 864-871, 2006

• DOI for A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2

Schatz, Patrik; Klar, Joakim; Andréasson, Sten; Ponjavic, Vesna et al.

Part of Ophthalmic Genetics, p. 51-56, 2006

• DOI for Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2

Familial Meniere's disease in five generations

Frykholm, Carina; Larsen, Hans-Christian; Dahl, Niklas; Klar, Joakim et al.

Part of Otology and Neurotology, p. 681-686, 2006

• DOI for Familial Meniere's disease in five generations

A Meniere's disease gene linked to chromosome 12p12.3.

Klar, Joakim; Frykholm, Carina; Friberg, Ulla; Dahl, Niklas

Part of American Journal of Medical Genetics Part B, p. 463-467, 2006

• DOI for A Meniere's disease gene linked to chromosome 12p12.3.

Mutations in the gene encoding fibroblast growth factor 10 are associated with

Entesarian, Miriam; Matsson, Hans; Klar, Joakim; Bergendal, Birgitta et al.

Part of Nat Genet, p. 125-7, 2005

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

Klar, Joakim; Åsling, Bengt; Carlsson, Birgit; Ulvsbäck, Magnus et al.

Part of Eur J Hum Genet, 2005

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Klar, Joakim; Gedde-Dahl Jr, Tobias; Larsson, Malin; Pigg, Maritta et al.

Part of J Med Genet, p. 208-12, 2004

Familial transient erythroblastopenia of childhood is associated with the chromosome

Gustavsson, Peter; Klar, Joakim; Matsson, Hans; Forestier, Erik et al.

Part of Br J Haematol, p. 261-4, 2002

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Draptchinskaia, Natalia; Gustavsson, Peter; Andersson, Björn; Pettersson, Monica et al.

Part of Nature Genetics, p. 169-75, 1999

• DOI for The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Matsson, Hans; Klar, Joakim; Draptchinskaia, Natalia; Gustavsson, Peter et al.

Part of Human Genetics, p. 496-500, 1999

• DOI for Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia