Joakim Klar

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

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

Ingår i BMC Pulmonary Medicine, 2016

• DOI för Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
• Ladda ner fulltext (pdf) av Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

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.

Ingår i Journal of Medical Genetics, s. 599-606, 2015

• DOI för 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.

Ingår i European Journal of Human Genetics, s. 1679-1683, 2015

• DOI för 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.

Ingår i BMC Medical Genetics, 2014

• DOI för Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
• Ladda ner fulltext (pdf) av Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

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

Ingår i Journal of Clinical Investigation, s. 4773-4780, 2014

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

Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

Fineschi, Serena; Klar, Joakim; Lopez Egido, Juan Ramon; Schuster, Jens et al.

Ingår i Frontiers in Immunology, 2025

• DOI för Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response
• Ladda ner fulltext (pdf) av Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

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

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

Ingår i eLIFE, 2024

• DOI för Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
• Ladda ner fulltext (pdf) av Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

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

Ingår i Genes, 2023

• DOI för Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
• Ladda ner fulltext (pdf) av Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

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

Fagius, Jan; Klar, Joakim; Dahl, Niklas

Ingår i Clinical Autonomic Research, s. 421-432, 2023

• DOI för Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
• Ladda ner fulltext (pdf) av Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

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.

Ingår i Frontiers in Immunology, 2022

• DOI för Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
• Ladda ner fulltext (pdf) av Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

Fineschi, Serena; Klar, Joakim; Lopez Egido, Juan Ramon; Schuster, Jens et al.

Ingår i Frontiers in Immunology, 2025

• DOI för Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response
• Ladda ner fulltext (pdf) av Comprehensive transcriptome assessment in PBMCs of post-COVID patients at a median follow-up of 28 months after a mild COVID infection reveals upregulation of JAK/STAT signaling and a prolonged immune response

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

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

Ingår i eLIFE, 2024

• DOI för Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
• Ladda ner fulltext (pdf) av Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

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

Ingår i Genes, 2023

• DOI för Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
• Ladda ner fulltext (pdf) av Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

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

Fagius, Jan; Klar, Joakim; Dahl, Niklas

Ingår i Clinical Autonomic Research, s. 421-432, 2023

• DOI för Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
• Ladda ner fulltext (pdf) av Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

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.

Ingår i Frontiers in Immunology, 2022

• DOI för Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
• Ladda ner fulltext (pdf) av Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

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.

Ingår i BMJ Open, 2022

• DOI för Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
• Ladda ner fulltext (pdf) av Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs

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

Ingår i Stem Cell Research, 2022

• DOI för 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
• Ladda ner fulltext (pdf) av 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

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.

Ingår i Frontiers in Molecular Neuroscience, 2022

• DOI för ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
• Ladda ner fulltext (pdf) av 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.

Ingår i Clinical Genetics, s. 318-324, 2021

• DOI för A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
• Ladda ner fulltext (pdf) av A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

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

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

Ingår i American Journal of Human Genetics, s. 739-748, 2021

• DOI för Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
• Ladda ner fulltext (pdf) av Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

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

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

Ingår i BMC Medical Genomics, 2020

• DOI för Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
• Ladda ner fulltext (pdf) av Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

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.

Ingår i International Journal of Hematology, s. 894-899, 2020

• DOI för 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.

Ingår i Clinical Epigenetics, 2020

• DOI för DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
• Ladda ner fulltext (pdf) av DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

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.

Ingår i Human Mutation, s. 899-903, 2019

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

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

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

Ingår i Journal of clinical neuroscience, s. 19-23, 2019

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

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.

Ingår i Molecular Genetics & Genomic Medicine, 2019

• DOI för Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
• Ladda ner fulltext (pdf) av Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

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.

Ingår i Neurobiology of Disease, 2019

• DOI för Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
• Ladda ner fulltext (pdf) av Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

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.

Ingår i Molecular Neurobiology, s. 7113-7127, 2019

• DOI för 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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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.

Ingår i Stem Cell Research, 2019

• DOI för Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
• Ladda ner fulltext (pdf) av Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

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

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

Ingår i Clinical Genetics, s. 182-186, 2018

• DOI för 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.

Ingår i European Journal of Human Genetics, s. 1871-1874, 2018

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

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.

Ingår i PLOS Genetics, 2017

• DOI för Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
• Ladda ner fulltext (pdf) av 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.

Ingår i BMC Medical Genetics, 2017

• DOI för 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
• Ladda ner fulltext (pdf) av 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

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

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

Ingår i Scientific Reports, 2017

• DOI för SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
• Ladda ner fulltext (pdf) av SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

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.

Ingår i European Journal of Human Genetics, s. 848-853, 2017

• DOI för 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.

Ingår i BMC Medical Genetics, 2016

• DOI för Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
• Ladda ner fulltext (pdf) av Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

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

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

Ingår i BMC Medical Genetics, 2016

• DOI för A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
• Ladda ner fulltext (pdf) av A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

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

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

Ingår i BMC Pulmonary Medicine, 2016

• DOI för Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
• Ladda ner fulltext (pdf) av Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

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

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

Ingår i Journal of the Neurological Sciences, s. 105-111, 2016

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

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.

Ingår i Journal of Medical Genetics, s. 599-606, 2015

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

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.

Ingår i Gene, s. 10-16, 2015

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

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

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

Ingår i Journal of Medical Genetics, s. 195-202, 2015

• DOI för 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.

Ingår i European Journal of Human Genetics, s. 1679-1683, 2015

• DOI för 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.

Ingår i European Journal of Human Genetics, s. 1180-1184, 2014

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

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.

Ingår i BMC Medical Genetics, s. 133, 2014

• DOI för A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
• Ladda ner fulltext (pdf) av 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.

Ingår i PLOS ONE, 2014

• DOI för Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
• Ladda ner fulltext (pdf) av Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

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.

Ingår i BMC Medical Genetics, 2014

• DOI för Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
• Ladda ner fulltext (pdf) av Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

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

Ingår i Journal of Clinical Investigation, s. 4773-4780, 2014

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

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

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

Ingår i British Journal of Haematology, s. 949-951, 2014

• DOI för 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.

Ingår i American Journal of Medical Genetics. Part A, s. 353-359, 2014

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

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.

Ingår i European Journal of Medical Genetics, s. 371-374, 2013

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

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.

Ingår i Human Mutation, s. 572-577, 2013

• DOI för 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.

Ingår i Journal of Investigative Dermatology, s. 1990-1997, 2013

• DOI för Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development

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.

Ingår i BMC Medical Genetics, s. 120, 2012

• DOI för 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.

Ingår i EJD. European journal of dermatology, s. 178-181, 2012

• DOI för 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.

Ingår i EJD. European journal of dermatology, s. 464-466, 2012

• DOI för 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.

Ingår i Scientific Reports, s. 730, 2012

• DOI för 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

Ingår i BMC Research Notes, s. 90, 2011

• DOI för 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.

Ingår i Journal of Medical Genetics, s. 705-709, 2011

• DOI för 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.

Ingår i American Journal of Human Genetics, s. 852-860, 2011

• DOI för 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.

Ingår i American Journal of Medical Genetics Part A, s. 1616-1622, 2011

• DOI för 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.

Ingår i Pakistan journal of medical sciences print, s. 686-689, 2011

Vascular endothelial growth factor B controls endothelial fatty acid uptake

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

Ingår i Nature, s. 917-921, 2010

• DOI för 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.

Ingår i Journal of Molecular Medicine, s. 39-46, 2010

• DOI för 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.

Ingår i American Journal of Human Genetics, s. 596-603, 2010

• DOI för 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.

Ingår i Journal of Human Genetics, s. 834-837, 2010

• DOI för 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.

Ingår i EJD. European journal of dermatology, s. 443-446, 2010

• DOI för 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.

Ingår i American Journal of Medical Genetics, s. 380-386, 2009

• DOI för A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
• Ladda ner fulltext (pdf) av 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.

Ingår i American Journal of Medical Genetics, s. 380-386, 2009

• DOI för A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
• Ladda ner fulltext (pdf) av A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

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

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

Ingår i European Journal of Human Genetics, s. 1600-1605, 2009

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

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

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

Ingår i American Journal of Human Genetics, s. 248-253, 2009

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

Alpha-cardiac actin mutations produce atrial septal defects

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

Ingår i Human Molecular Genetics, s. 256-265, 2008

• DOI för 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.

Ingår i Journal of Medical Genetics, s. 615-620, 2007

• DOI för 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.

Ingår i Journal of Human Genetics, s. 864-871, 2006

• DOI för 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.

Ingår i Ophthalmic Genetics, s. 51-56, 2006

• DOI för 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.

Ingår i Otology and Neurotology, s. 681-686, 2006

• DOI för 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

Ingår i American Journal of Medical Genetics Part B, s. 463-467, 2006

• DOI för 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.

Ingår i Nat Genet, s. 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.

Ingår i 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.

Ingår i J Med Genet, s. 208-12, 2004

Familial transient erythroblastopenia of childhood is associated with the chromosome

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

Ingår i Br J Haematol, s. 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.

Ingår i Nature Genetics, s. 169-75, 1999

• DOI för 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.

Ingår i Human Genetics, s. 496-500, 1999

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