Joakim Klar

Nyckelord

• dna sequencing
• genetics
• rna sequencing

Publikationer

Urval av publikationer

• Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease (2016)
• Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution (2015)
• Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans (2015)
• Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice (2014)
• Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy (2014)

Senaste publikationer

• Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family (2023)
• Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders (2023)
• Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia (2022)
• ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function (2022)
• 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 (2022)

Alla publikationer

Artiklar

• Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family (2023)
• Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders (2023)
• Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia (2022)
• ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function (2022)
• 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 (2022)
• Cohort profile (2022)
• A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome (2021)
• Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (2021)
• Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele (2020)
• Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants (2020)
• DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors (2020)
• Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments (2019)
• Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations (2019)
• Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment (2019)
• Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions (2019)
• Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 (2019)
• Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families (2019)
• Stereocilin gene variants associated with episodic vertigo (2018)
• Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia (2018)
• 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 (2017)
• A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. (2017)
• Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage (2017)
• SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. (2017)
• Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities (2016)
• Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency (2016)
• A novel variant in MYLK causes thoracic aortic dissections (2016)
• Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease (2016)
• Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation (2015)
• Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution (2015)
• Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans (2015)
• MuSK (2015)
• WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations (2014)
• A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency (2014)
• Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation (2014)
• Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice (2014)
• Recurrent GATA1 mutations in Diamond-Blackfan anaemia (2014)
• Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia (2014)
• Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy (2014)
• Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development (2013)
• Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation (2013)
• Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing. (2013)
• A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect (2012)
• Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l) (2012)
• Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12 (2012)
• A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair (2012)
• Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes (2011)
• Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia (2011)
• Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease (2011)
• Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family (2011)
• FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome (2011)
• A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis (2010)
• Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity (2010)
• Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association (2010)
• Vascular endothelial growth factor B controls endothelial fatty acid uptake (2010)
• Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation (2010)
• A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population (2009)
• A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population (2009)
• Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome (2009)
• WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome (2009)
• Alpha-cardiac actin mutations produce atrial septal defects (2008)
• Congenital ichthyosis (2007)
• Familial Meniere's disease in five generations (2006)
• A Meniere's disease gene linked to chromosome 12p12.3. (2006)
• A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association (2006)
• Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2 (2006)
• Mutations in the gene encoding fibroblast growth factor 10 are associated with (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. (2005)
• Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. (2004)
• Familial transient erythroblastopenia of childhood is associated with the chromosome (2002)
• The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia (1999)
• Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia (1999)
• Epigenetic Insights into GABAergic development in Dravet Syndrome iPSC and Therapeutic Implications