J. Klar

发表

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

N. Dahl, C. Stecksén-Blicks, B. Bergendal, 2011, American journal of medical genetics. Part A.

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

D. Bowers, N. Dahl, E. D. de Bont, 1999, Human Genetics.

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

G. Schulte, S. Baig, N. Dahl, 2011, American journal of human genetics.

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

R. Jonsson, A. Bolstad, Y. Hayashi, 2005, Nature Genetics.

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Therese G. Kellgren, A. Ameur, G. Hallmans, 2017, Scientific Reports.

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

L. Feuk, N. Dahl, K. Maqbool, 2020, BMC Medical Genomics.

Familial Ménière's Disease in Five Generations

H. Larsen, N. Dahl, H. Rask-Andersen, 2006, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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

A. Ameur, B. Johansson, E. Stattin, 2016, BMC Medical Genetics.

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

A. Ameur, N. Dahl, A. Wanders, 2015, European Journal of Human Genetics.

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

S. Fineschi, N. Dahl, K. Jonsson, 2022, Frontiers in Immunology.

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

N. Dahl, J. Schuster, J. Klar, 2009, Journal of Molecular Medicine.

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

N. Dahl, A. Gånemo, A. Vahlquist, 2007, Journal of Medical Genetics.

Alpha-cardiac actin mutations produce atrial septal defects.

M. Vikkula, A. Jonzon, K. Trybus, 2008, Human molecular genetics.

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

A. Ameur, S. Ekvall, G. Annéren, 2015, Journal of Medical Genetics.

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

E. Hagström, M. Börjesson, A. Delgado-Vega, 2022, BMJ Open.

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

R. Zechner, J. Fischer, B. Bouadjar, 2009, American journal of human genetics.

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

S. Baig, N. Dahl, J. Schuster, 2020, International Journal of Hematology.

Recurrent GATA1 mutations in Diamond‐Blackfan anaemia

N. Dahl, H. Gazda, J. Klar, 2014, British journal of haematology.

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

S. Baig, N. Dahl, M. Tariq, 2014, PloS one.

Frizzled6 deficiency disrupts the differentiation process of nail development

D. Schlessinger, S. Baig, N. Dahl, 2013, Journal of Investigative Dermatology.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

S. Baig, N. Dahl, M. Tariq, 2012, BMC Medical Genetics.

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

R. Redon, E. Génin, K. Devriendt, 2020, Clinical genetics.

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

M. Huss, A. Nordgren, B. Birnir, 2022, Frontiers in Molecular Neuroscience.

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

D. Bowers, N. Dahl, E. D. de Bont, 1999, Human Genetics.

WNT10A mutations account for ¼ of population‐based isolated oligodontia and show phenotypic correlations

N. Dahl, B. Bergendal, J. Klar, 2014, American journal of medical genetics. Part A.

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

Peter Gustavsson, Hans Matsson, I. Dianzani, 1999, Nature Genetics.

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

M. Huss, B. Birnir, N. Dahl, 2019, Neurobiology of Disease.

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

M. Huss, J. Bergquist, G. Annéren, 2019, Molecular Neurobiology.

Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 286 Clinical and Genetic Studies of Hearing Impairment

S. Ekvall, H. Larsen, N. Dahl, 2007 .

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

Neha Tiwari, N. Tiwari, N. Dahl, 2010, American journal of human genetics.

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

N. Dahl, B. Bergendal, J. Klar, 2016, BMC Medical Genetics.

J. Ludvigsson, B. Åsling, G. Annéren, 2005, European Journal of Human Genetics.

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

H. Stefánsson, N. Dahl, E. Holmberg, 2009, American journal of medical genetics. Part A.

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

P. Blomstrand, N. Dahl, B. Bergendal, 2011, Journal of Medical Genetics.

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

G. Annéren, N. Dahl, M. Shahsavani, 2020, Clinical Epigenetics.

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

Adam Ameur, Lars Feuk, L. Feuk, 2013, Human mutation.

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

S. Baig, K. Mäbert, N. Dahl, 2015, Journal of Medical Genetics.

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

S. Baig, N. Dahl, M. Wajid, 2009, European Journal of Human Genetics.

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

Y. Bossé, D. Postma, J. Kere, 2016, BMC Pulmonary Medicine.

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

S. Baig, S. Milatz, J. Piontek, 2017, PLoS genetics.

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

B. Birnir, N. Matsumoto, S. Baig, 2021, American journal of human genetics.

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

S. Baig, N. Dahl, J. Wikström, 2017, BMC Medical Genetics.

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

S. Baig, R. Raininko, N. Dahl, 2016, Journal of the Neurological Sciences.

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

N. Dahl, M. Larsson, A. Vahlquist, 2004, Journal of Medical Genetics.

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

R. Fredriksson, N. Dahl, A. Vahlquist, 2006, Journal of Human Genetics.

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

S. Baig, K. Mäbert, J. Schuster, 2014, BMC Medical Genetics.

Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene

N. Dahl, J. Henter, E. Forestier, 2002, British journal of haematology.

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

S. Baig, P. Westermark, M. Rasool, 2010, European journal of dermatology : EJD.

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

S. Baig, N. Dahl, J. Wikström, 2017, European Journal of Human Genetics.

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

L. Feuk, K. Mikoshiba, A. Ameur, 2014, The Journal of clinical investigation.

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

S. Baig, N. Dahl, T. Lönnerholm, 2018, Clinical genetics.

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

N. Dahl, M. Sobol, J. Klar, 2011, BMC Research Notes.

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

A. Ameur, N. Dahl, J. Klar, 2018, European Journal of Human Genetics.

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

N. Dahl, J. Klar, S. Lahsaee, 2010, Journal of Human Genetics.

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

N. Dahl, J. Klar, U. Friberg, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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.

N. Dahl, J. Schuster, J. Klar, 2022, Stem cell research.

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

A. Ameur, N. Dahl, J. Klar, 2018, European Journal of Human Genetics.

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

S. Baig, N. Dahl, M. Tariq, 2012, Scientific Reports.

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.

S. Baig, N. Dahl, M. Tariq, 2012, European journal of dermatology : EJD.

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Therese G. Kellgren, A. Ameur, G. Hallmans, 2017, Scientific Reports.

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

N. Dahl, J. Klar, L. Tranebjærg, 2015, Gene.