Publikationer i DiVA – Niklas Dahl

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

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

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.

Ingår i Genes, 2022.

DOI för GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease Ladda ner fulltext (pdf) av 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

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

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

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.

Ingår i Frontiers in Genetics, 2022.

DOI för Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model Ladda ner fulltext (pdf) av 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.

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

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

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

Ingår i Communications Biology, 2021.

DOI för A combined approach for single-cell mRNA and intracellular protein expression analysis Ladda ner fulltext (pdf) av 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.

Ingår i Stem Cell Research, 2021.

DOI för Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors Ladda ner fulltext (pdf) av 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.

Ingår i Journal of clinical neuroscience, s. 8-12, 2021.

DOI för 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.

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

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.

Ingår i Stem Cell Research, 2021.

DOI för Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A Ladda ner fulltext (pdf) av 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.

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

Aniridia with PAX6 mutations and narcolepsy

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

Ingår i Journal of Sleep Disorders, 2020.

DOI för 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.

Ingår i Brain, s. 2929-2944, 2020.

DOI för 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.

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

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

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

Ingår i Stem Cell Research, 2020.

DOI för Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 Ladda ner fulltext (pdf) av 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.

Ingår i Stem Cell Research, 2020.

DOI för 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.

Ingår i Stem Cell Research, 2020.

DOI för Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9 Ladda ner fulltext (pdf) av 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.

Ingår i NEUROLOGY-GENETICS, 2020.

DOI för Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations Ladda ner fulltext (pdf) av 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.

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

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

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

Ingår i Frontiers in Genetics, 2019.

DOI för Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 Ladda ner fulltext (pdf) av 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.

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

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.

Ingår i Stem Cell Research, 2019.

DOI för Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations Ladda ner fulltext (pdf) av 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.

Ingår i Stem Cell Research, 2019.

DOI för Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant Ladda ner fulltext (pdf) av 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.

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

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.

Ingår i Experimental Cell Research, 2019.

DOI för Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality Ladda ner fulltext (pdf) av 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.

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 Ladda ner fulltext (pdf) av 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.

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

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

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

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

Ingår i Molecular Psychiatry, s. 1674-1684, 2018.

DOI för 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.

Ingår i Cell reports, s. 3441-+, 2018.

DOI för De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Ladda ner fulltext (pdf) av 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.

Ingår i Human Mutation, s. 1262-1272, 2018.

DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing Ladda ner fulltext (pdf) av 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.

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

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.

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

Resolution of infantile intestinal pseudo-obstruction in a boy

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

Ingår i Journal of Pediatric Surgery Case Reports, s. 28-34, 2017.

DOI för Resolution of infantile intestinal pseudo-obstruction in a boy Ladda ner fulltext (pdf) av 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.

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.

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

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.

Ingår i Human Molecular Genetics, s. 571-583, 2016.

DOI för 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.

Ingår i Stem Cell Research, s. 474-478, 2016.

DOI för Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions Ladda ner fulltext (pdf) av 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.

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

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

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

Ingår i Annals of Neurology, s. 412-25, 2015.

DOI för LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course Ladda ner fulltext (pdf) av 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.

Ingår i Stem Cells and Development, s. 2032-2040, 2015.

DOI för 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.

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

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

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.

Ingår i Cellular Reprogramming, s. 327-337, 2015.

DOI för 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.

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

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

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, s. e93607-, 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

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

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

Ingår i The FASEB Journal, s. 2293-2305, 2014.

DOI för 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.

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

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

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.

Ingår i Human Mutation, s. 1160-1171, 2013.

DOI för 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.

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

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

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

Ingår i European Journal of Human Genetics, 2013.

DOI för Clinical utility gene card for: Diamond-Blackfan anemia--update 2013 Ladda ner fulltext (pdf) av 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.

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

DOI för 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.

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.

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

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.

Ingår i BMC Medical Genetics, s. 123-, 2012.

DOI för Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder Ladda ner fulltext (pdf) av 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

Ingår i Archives of Dermatological Research, s. 377-386, 2012.

DOI för 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.

Ingår i American Journal of Medical Genetics. Part A, s. 1111-1117, 2012.

DOI för 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.

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

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)

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

Ingår i PLOS ONE, s. e29471-, 2012.

DOI för siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis Ladda ner fulltext (pdf) av 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

Ingår i PLOS ONE, s. e17672-, 2011.

DOI för 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.

Ingår i European Journal of Human Genetics, 2011.

DOI för 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

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

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.

Ingår i Neurogenetics, s. 65-72, 2011.

DOI för 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.

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

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

Re-evaluation of the dysequilibrium syndrome

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

Ingår i Acta Neurologica Scandinavica, s. 28-33, 2011.

DOI för 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.

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

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

Farrar, Jason E.; Dahl, Niklas

Ingår i Seminars in hematology (Print), s. 124-135, 2011.

DOI för 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.

Ingår i American Journal of Human Genetics, s. 126-137, 2010.

DOI för 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.

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

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

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

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

Ingår i Muscle and Nerve, s. 751-757, 2010.

DOI för 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.

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

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.

Ingår i Reproductive Biology and Endocrinology, s. 58-, 2010.

DOI för 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.

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

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.

Ingår i Blood Cells, Molecules & Diseases, s. 23-28, 2010.

DOI för 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.

Ingår i American journal of medical genetics. Part B, Neuropsychiatric genetics, s. 280-285, 2010.

DOI för 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

Ingår i Läkartidningen, s. 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.

Ingår i American Journal of Medical Genetics. Part A, s. 2595-2598, 2010.

DOI för 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.

Ingår i Human Mutation, s. 1269-1279, 2010.

DOI för 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.

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

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.

Ingår i European Journal of Medical Genetics, s. 297-302, 2009.

DOI för 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.

Ingår i Pediatric Blood & Cancer, s. 1143-1146, 2009.

DOI för 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.

Ingår i Acta Orthopaedica, s. 711-715, 2009.

DOI för 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.

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