Niklas Dahl

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Part of Molecular Genetics & Genomic Medicine, 2024

• DOI for Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

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

Part of eLIFE, 2024

• DOI for Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Part of Stem Cell Research, 2024

• DOI for Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
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Heredity of pregnancy‐related pelvic girdle pain in Sweden

Kristiansson, Per; Zöller, Bengt; Dahl, Niklas; Kalliokoski, Paul et al.

Part of Acta Obstetricia et Gynecologica Scandinavica, p. 1250-1258, 2023

• DOI for Heredity of pregnancy‐related pelvic girdle pain in Sweden
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

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

Part of Genes, 2023

• DOI for Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Part of Molecular Genetics & Genomic Medicine, 2024

• DOI for Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

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

Part of eLIFE, 2024

• DOI for Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Part of Stem Cell Research, 2024

• DOI for Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
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Heredity of pregnancy‐related pelvic girdle pain in Sweden

Kristiansson, Per; Zöller, Bengt; Dahl, Niklas; Kalliokoski, Paul et al.

Part of Acta Obstetricia et Gynecologica Scandinavica, p. 1250-1258, 2023

• DOI for Heredity of pregnancy‐related pelvic girdle pain in Sweden
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

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

Part of Genes, 2023

• DOI for Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment

Davis, Kasey N.; Qu, Ping-Ping; Ma, Shining; Lin, Ling et al.

Part of Human Molecular Genetics, p. 3105-3120, 2023

• DOI for Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment

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

Fagius, Jan; Klar, Joakim; Dahl, Niklas

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

• DOI for Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
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Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

Fineschi, Serena; Klar, Joakim; Gustafsson, Kristin Ayoola; Jonsson, Kent et al.

Part of Frontiers in Immunology, 2022

• DOI for Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
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Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs

Stattin, Evalena; Hagström, Emil; Dahl, Niklas; Strömsöe, Anneli et al.

Part of BMJ Open, 2022

• DOI for Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
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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.

Part of Frontiers in Genetics, 2022

• DOI for Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
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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.

Part of Genes, 2022

• DOI for GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
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Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Schuster, Jens; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas

Part of Stem Cell Research, 2022

• DOI for Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2
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ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

Schuster, Jens; Klar, Joakim; Khalfallah, Ayda; Laan, Loora et al.

Part of Frontiers in Molecular Neuroscience, 2022

• DOI for ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne-Sophie et al.

Part of Clinical Genetics, p. 318-324, 2021

• DOI for A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
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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.

Part of Journal of clinical neuroscience, p. 8-12, 2021

• DOI for Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

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.

Part of Stem Cell Research, 2021

• DOI for Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

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

Part of American Journal of Human Genetics, p. 739-748, 2021

• DOI for Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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A combined approach for single-cell mRNA and intracellular protein expression analysis

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

Part of Communications Biology, 2021

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

Part of Stem Cell Research, 2021

• DOI for Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors
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DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

Part of Clinical Epigenetics, 2020

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

Part of Stem Cell Research, 2020

• DOI for Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

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

Akram, Talia; Fatima, Ambrin; Klar, Joakim; Hoeber, Jan et al.

Part of International Journal of Hematology, p. 894-899, 2020

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

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

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

Part of BMC Medical Genomics, 2020

• DOI for Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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Aniridia with PAX6 mutations and narcolepsy

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

Part of Journal of Sleep Research, 2020

• DOI for 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.

Part of Brain, p. 2929-2944, 2020

• DOI for Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Niemelä, Valter; Salih, Ammar; Solea, Daniela; Lindvall, Bjoern et al.

Part of NEUROLOGY-GENETICS, 2020

• DOI for Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
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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.

Part of Stem Cell Research, 2020

• DOI for Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
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Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

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

Part of Stem Cell Research, 2020

• DOI for Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9
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Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikström, Johan et al.

Part of Human Mutation, p. 899-903, 2019

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

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

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

Part of Journal of clinical neuroscience, p. 19-23, 2019

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

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

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

Part of Frontiers in Genetics, 2019

• DOI for Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
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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.

Part of Stem Cell Research, 2019

• DOI for Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
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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.

Part of Stem Cell Research, 2019

• DOI for Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Sobol, Maria; Klar, Joakim; Laan, Loora; Shahsavani, Mansoureh et al.

Part of Molecular Neurobiology, p. 7113-7127, 2019

• DOI for Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
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Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Schuster, Jens; Laan, Loora; Klar, Joakim; Jin, Zhe et al.

Part of Neurobiology of Disease, 2019

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

Part of Experimental Cell Research, 2019

• DOI for Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
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Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

Schuster, Jens; Fatima, Ambrin; Schwarz, Franziska; Klar, Joakim et al.

Part of Stem Cell Research, 2019

• DOI for Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
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An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

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

Part of Molecular Psychiatry, p. 1674-1684, 2018

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

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.

Part of Human Mutation, p. 1262-1272, 2018

• DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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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.

Part of Cell Reports, p. 3441-+, 2018

• DOI for De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Frykholm, Carina; Klar, Joakim; Tomanovic, Tatjana; Ameur, Adam et al.

Part of European Journal of Human Genetics, p. 1871-1874, 2018

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

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Ali, Zafar; Zulfiqar, Shumaila; Klar, Joakim; Wikström, Johan et al.

Part of BMC Medical Genetics, 2017

• DOI for Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
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Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

Klar, Joakim; Piontek, Jörg; Milatz, Susanne; Tariq, Muhammad et al.

Part of PLOS Genetics, 2017

• DOI for Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

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

Part of Scientific Reports, 2017

• DOI for SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
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A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Klar, Joakim; Ali, Zafar; Farooq, Muhammad; Khan, Kamal et al.

Part of European Journal of Human Genetics, p. 848-853, 2017

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

Resolution of infantile intestinal pseudo-obstruction in a boy

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

Part of Journal of Pediatric Surgery Case Reports, p. 28-34, 2017

• DOI for Resolution of infantile intestinal pseudo-obstruction in a boy
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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.

Part of Human Molecular Genetics, p. 571-583, 2016

• DOI for ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

Bergendal, Birgitta; Norderyd, Johanna; Zhou, Xiaolei; Klar, Joakim et al.

Part of BMC Medical Genetics, 2016

• DOI for Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
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Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

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

Part of Journal of the Neurological Sciences, p. 105-111, 2016

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

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.

Part of Stem Cell Research, p. 474-478, 2016

• DOI for Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions
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MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

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

Part of Journal of Medical Genetics, p. 195-202, 2015

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

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

Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin et al.

Part of Gene, p. 10-16, 2015

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

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

Klar, Joakim; Schuster, Jens; Khan, Tahir Naeem; Jameel, Muhammad et al.

Part of Journal of Medical Genetics, p. 599-606, 2015

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

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

Klar, Joakim; Raykova, Doroteya; Gustafson, Elisabet; Tóthová, Iveta et al.

Part of European Journal of Human Genetics, p. 1679-1683, 2015

• DOI for Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

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

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

Part of Annals of Neurology, p. 412-25, 2015

• DOI for LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
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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.

Part of Cellular Reprogramming, p. 327-337, 2015

• DOI for Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

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.

Part of Stem Cells and Development, p. 2032-2040, 2015

• DOI for Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage

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

Khan, Tahir Naeem; Klar, Joakim; Tariq, Muhammad; Baig, Shehla Anjum et al.

Part of European Journal of Human Genetics, p. 1180-1184, 2014

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

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

Raykova, Doroteya; Klar, Joakim; Azhar, Aysha; Khan, Tahir Naeem et al.

Part of PLOS ONE, 2014

• DOI for Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
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A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad; Moawia, Abubakar et al.

Part of BMC Medical Genetics, p. 133, 2014

• DOI for A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
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Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

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

Part of Journal of Clinical Investigation, p. 4773-4780, 2014

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

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

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

Part of The FASEB Journal, p. 2293-2305, 2014

• DOI for Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

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

Arzoo, Pakeeza Shaiq; Klar, Joakim; Bergendal, Birgitta; Norderyd, Johanna et al.

Part of American Journal of Medical Genetics. Part A, p. 353-359, 2014

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

Recurrent GATA1 mutations in Diamond-Blackfan anaemia

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

Part of British Journal of Haematology, p. 949-951, 2014

• DOI for Recurrent GATA1 mutations in Diamond-Blackfan anaemia

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

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

Part of European Journal of Human Genetics, 2013

• DOI for Clinical utility gene card for: Diamond-Blackfan anemia--update 2013
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Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development

Cui, Chang-Yi; Klar, Joakim; Georgii-Heming, Patrik; Fröjmark, Anne-Sophie et al.

Part of Journal of Investigative Dermatology, p. 1990-1997, 2013

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

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.

Part of Human Mutation, p. 1160-1171, 2013

• DOI for Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

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

Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin et al.

Part of Human Mutation, p. 572-577, 2013

• DOI for Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

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

Khan, Tahir Naeem; Klar, Joakim; Ali, Zafar; Khan, F. et al.

Part of European Journal of Medical Genetics, p. 371-374, 2013

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

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

Part of PLOS ONE, 2012

• DOI for siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis
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Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l)

Khan, Tahir Naeem; Klar, Joakim; Nawaz, Sadia; Jameel, Muhammad et al.

Part of BMC Medical Genetics, p. 120, 2012

• DOI for Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1l)

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.

Part of BMC Medical Genetics, p. 123, 2012

• DOI for Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
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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

Part of Archives of Dermatological Research, p. 377-386, 2012

• DOI for Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

Azhar, Aysha; Tariq, Muhammad; Baig, Shahid Mahmood; Dahl, Niklas et al.

Part of EJD. European journal of dermatology, p. 464-466, 2012

• DOI for A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12

Nawaz, Sadia; Tariq, Muhammad; Ahmad, Ilyas; Malik, Naveed Altaf et al.

Part of EJD. European journal of dermatology, p. 178-181, 2012

• DOI for Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12

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.

Part of American Journal of Medical Genetics. Part A, p. 1111-1117, 2012

• DOI for Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

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

Tariq, M.; Azhar, A.; Baig, S. M.; Dahl, Niklas et al.

Part of Scientific Reports, p. 730, 2012

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

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

Sobol, Maria; Dahl, Niklas; Klar, Joakim

Part of BMC Research Notes, p. 90, 2011

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

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

Klar, Joakim; Blomstrand, Peter; Brunmark, Charlott; Badhai, Jitendra et al.

Part of Journal of Medical Genetics, p. 705-709, 2011

• DOI for Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Nawaz, Sadia; Tariq, Muhammad; Azhar, Aysha; Rasool, Mahmood et al.

Part of Pakistan journal of medical sciences print, p. 686-689, 2011

Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes

Bergendal, Birgitta; Klar, Joakim; Stecksén-Blicks, Christina; Norderyd, Johanna et al.

Part of American Journal of Medical Genetics Part A, p. 1616-1622, 2011

• DOI for Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes

Re-evaluation of the dysequilibrium syndrome

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

Part of Acta Neurologica Scandinavica, p. 28-33, 2011

• DOI for Re-evaluation of the dysequilibrium syndrome

Clinical utility gene card for: Diamond Blackfan anemia

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

Part of European Journal of Human Genetics, 2011

• DOI for Clinical utility gene card for: Diamond Blackfan anemia

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

Part of PLOS ONE, 2011

• DOI for 5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

Farrar, Jason E.; Dahl, Niklas

Part of Seminars in hematology (Print), p. 124-135, 2011

• DOI for Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Fröjmark, Anne-Sophie; Schuster, Jens; Sobol, Maria; Entesarian, Miriam et al.

Part of American Journal of Human Genetics, p. 852-860, 2011

• DOI for Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

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.

Part of Neurogenetics, p. 65-72, 2011

• DOI for Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

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.

Part of Blood Cells, Molecules & Diseases, p. 23-28, 2010

• DOI for Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia

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

Fröjmark, Anne-Sophie; Badhai, Jitendra; Klar, Joakim; Thuveson, Maria et al.

Part of Journal of Molecular Medicine, p. 39-46, 2010

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

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.

Part of American Journal of Medical Genetics. Part A, p. 2595-2598, 2010

• DOI for Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

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.

Part of Reproductive Biology and Endocrinology, p. 58, 2010

• DOI for 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)

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

Dahlqvist, Johanna; Klar, Joakim; Tiwari, Neha; Schuster, Jens et al.

Part of American Journal of Human Genetics, p. 596-603, 2010

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

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

Boria, Ilenia; Garelli, Emanuela; Gazda, Hanna T.; Aspesi, Anna et al.

Part of Human Mutation, p. 1269-1279, 2010

• DOI for The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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

Gabriková, Dana; Frykholm, Carina; Friberg, Ulla; Lahsaee, Sara et al.

Part of Journal of Human Genetics, p. 834-837, 2010

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

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.

Part of American journal of medical genetics. Part B, Neuropsychiatric genetics, p. 280-285, 2010

• DOI for Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification

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.

Part of American Journal of Human Genetics, p. 126-137, 2010

• DOI for A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

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

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

Part of Muscle and Nerve, p. 751-757, 2010

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

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

Rasool, Mahmood; Nawaz, Sadia; Azhar, Aysha; Wajid, Muhammad et al.

Part of EJD. European journal of dermatology, p. 443-446, 2010

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

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

Part of Läkartidningen, p. 1138-1139, 2010

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

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena et al.

Part of American Journal of Medical Genetics, p. 380-386, 2009

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

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena et al.

Part of American Journal of Medical Genetics, p. 380-386, 2009

• DOI for A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
• Download full text (pdf) of A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Davey, Edward J.; Schuster, Jens et al.

Part of Biochimica et Biophysica Acta, p. 1036-1042, 2009

• DOI for Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia

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

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

Part of American Journal of Human Genetics, p. 248-253, 2009

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

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

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

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

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

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Örlén, Hanna; Melberg, Atle; Raininko, Raili; Kumlien, Eva et al.

Part of American Journal of Medical Genetics Part B, p. 984-992, 2009

• DOI for SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

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.

Part of European Journal of Medical Genetics, p. 297-302, 2009

• DOI for Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene

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.

Part of Acta Orthopaedica, p. 711-715, 2009

• DOI for Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family

N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1

Jitkaew, Siriporn; Trebinska, Alicja; Grzybowska, Ewa; Carlsson, Göran et al.

Part of Journal of Biological Chemistry, p. 27827-27837, 2009

• DOI for N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

Barrio, Alvaro Martinez; Eriksson, Oskar; Badhai, Jitendra; Fröjmark, Anne-Sophie et al.

Part of PLoS ONE, 2009

• DOI for Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
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Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency

Badhai, Jitendra; Fröjmark, Anne-Sophie; Razzaghian, Hamid Reza; Davey, Edward et al.

Part of FEBS Letters, p. 2049-2053, 2009

• DOI for Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency
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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.

Part of Pediatric Blood & Cancer, p. 1143-1146, 2009

• DOI for Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

Mansouri, Mahmoud Reza; Schuster, Jens; Badhai, Jitendra; Stattin, Eva-Lena et al.

Part of Human molecular genetics, p. 3776-83, 2008

• DOI for Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Rasool, Mahmood; Schuster, Jens; Aslam, Muhammad; Tariq, Muhammad et al.

Part of Journal of Human Genetics, p. 894-8, 2008

• DOI for A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family

Eeg-Olofsson, Orvar; Kalimo, Hannu; Eeg-Olofsson, Karin Edebol; Jagell, Sten et al.

Part of European journal of paediatric neurology, p. 404-7, 2008

• DOI for Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family

Alpha-cardiac actin mutations produce atrial septal defects

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

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

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

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

Carlsson, G; van't Hooft, I; Melin, M; Entesarian, M et al.

Part of Journal of Internal Medicine, p. 388-400, 2008

• DOI for Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature

Stattin, Eva-Lena; Tegner, Y.; Domellöf, M.; Dahl, Niklas

Part of Osteoarthritis and Cartilage, p. 890-6, 2008

• DOI for Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature

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

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

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

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

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Klein, Christoph; Grudzien, Magda; Appaswamy, Giridharan; Germeshausen, Manuela et al.

Part of Nature Genetics, p. 86-92, 2007

• DOI for HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

Melin, Malin; Entesarian, Miriam; Carlsson, G.; Garwicz, Daniel et al.

Part of Biochemical and Biophysical Research Communications - BBRC, p. 571-575, 2007

• DOI for Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

Entesarian, Miriam; Dahlqvist, Johanna; Shashi, Vandana; Stanley, Christy S. et al.

Part of European Journal of Human Genetics, p. 379-382, 2007

• DOI for FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Mantripragada, Kiran K; Thuresson, Ann-Charlotte; Piotrowski, Arek; Diaz De Ståhl, Teresita et al.

Part of Journal of Medical Genetics, p. 28-38, 2006

• DOI for Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

Matsson, H; Davey, EJ; Frojmark, AS; Miyake, K et al.

Part of Blood Cells Mol Dis, p. 259-264, 2006

• DOI for Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

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

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

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

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

Familial Meniere's disease in five generations

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

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

• DOI for Familial Meniere's disease in five generations

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

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

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

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

Molecular genetic analysis of a de novo balanced translocation t(6;17) (p21.31;q11.2) associated with hypospadias and anorectal malformation

Mansouri, Mahmoud Reza; Carlsson, Birgit; Davey, Edward; Nordenskjöld, Agneta et al.

Part of Human Genetics, p. 162-168, 2006

• DOI for Molecular genetic analysis of a de novo balanced translocation t(6;17) (p21.31;q11.2) associated with hypospadias and anorectal malformation

Constitutional downregulation of SEMA5A expression in autism

Melin, Malin; Carlsson, B.; Anckarsäter, H.; Råstam, M. et al.

Part of Neuropsychobiology, p. 64-69, 2006

• DOI for Constitutional downregulation of SEMA5A expression in autism

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

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

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

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

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Marklund, Lena; Melin, Malin; Melberg, Atle; Giedraitis, Vilmantas et al.

Part of American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, p. 608-614, 2006

• DOI for Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.

Gustavsson, P; Schoumans, J; Staaf, J; Jönsson, G et al.

Part of Clin Genet, p. 441-3, 2006

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

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

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

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Mansouri, Mahmoud Reza; Marklund, Lena; Gustavsson, Peter; Davey, Edward et al.

Part of European Journal of Human Genetics, p. 970-977, 2005

• DOI for Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia

Flygare, Johan; Kiefer, Thomas; Miyake, Koichi; Utsugisawa, Taiju et al.

Part of Blood, p. 4627-4634, 2005

• DOI for Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia

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

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

Part of Eur J Hum Genet, 2005

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.

Chiocchetti, Annalisa; Gibello, Luisa; Carando, Adriana; Aspesi, Anna et al.

Part of Haematologica, p. 1453-62, 2005

Variability in noise susceptibility in a Swedish population: The role of 35delG mutation in the connexin 26 (GJB2) gene

Carlsson, Per-Inge; Borg, Erik; Grip, Lars; Dahl, Niklas et al.

Part of Audiological Medicine, p. 123-130, 2004

• DOI for Variability in noise susceptibility in a Swedish population: The role of 35delG mutation in the connexin 26 (GJB2) gene

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

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

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

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.

Matsson, Hans; Davey, Edward J; Draptchinskaia, Natalia; Hamaguchi, Isao et al.

Part of Mol Cell Biol, p. 4032-7, 2004

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Dianzani, Irma; Garelli, E.; Gustavsson, P.; Carando, A. et al.

Part of Journal of Medical Genetics, 2003

• DOI for Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eithty-three patients

Gånemo, Agneta; Pigg, Maritta; Virtanen, Marie; Kukk, Terje et al.

Part of Acta Dermato-Venereologica, p. 24-30, 2003

Familial transient erythroblastopenia of childhood is associated with the chromosome

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

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

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint

Tentler, Dmitry; Brandberg, Göran; Betancur, Catalina; Gillberg, Christopher et al.

Part of American Journal of Medical Genetics, p. 729-36, 2001

• DOI for A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Tentler, Dmitry; Gustavsson, Peter; Elinder, Göran; Eklöf, Ole et al.

Part of Journal of Medical Genetics, p. 128-131, 2000

• DOI for A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Audiometric Characterization of a Family with Digenic Autosomal, Dominant, Progressive Sensorineural Hearing Loss

Borg, Erik; Samuelsson, Eva; Dahl, Niklas

Part of Acta Oto-Laryngologica, p. 51-57, 2000

• DOI for Audiometric Characterization of a Family with Digenic Autosomal, Dominant, Progressive Sensorineural Hearing Loss

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

Pigg, Maritta; Gedde-Dahl, Tobias; Cox, Diane W.; Haugen, Guttorm et al.

Part of Prenatal Diagnosis, p. 132-7, 2000

Charcot-Marie-Tooth Disease With Cerebellar Atrophy

Melberg, Atle; Raininko, Raili; Dahl, Niklas; Olsson, Yngve et al.

Part of Journal of Clinical Neuromuscular Disease, p. 24-26, 2000

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

Carling, Tobias; Szabo, Eva; Bai, Mei; Ridefelt, Peter et al.

Part of Journal of Clinical Endocrinology and Metabolism, p. 2042-7, 2000

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

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

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

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

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

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

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

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

Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Melberg, Atle; Dahl, Niklas; Hetta, Jerker; Valind, S. et al.

Part of Neurology, p. 2190-2, 1999

Alpha-tectorin involvement in hearing disabilities: One gene-two phenotypes

Balciuniene, Jorune; Dahl, Niklas; Jalonen, Paula; Verhoeven, Kristien et al.

Part of Human Genetics, p. 211-216, 1999

• DOI for Alpha-tectorin involvement in hearing disabilities: One gene-two phenotypes

A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Cario, Holger; Bode, H.; Gustavsson, P.; Dahl, Niklas et al.

Part of Clinical Genetics, p. 487-92, 1999

• DOI for A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

Tentler, D.; Gustavsson, P.; Leisti, J.; Schueler, M. et al.

Part of European Journal of Human Genetics, p. 541-8, 1999

Diamond-Blackfan anaemia in the Italian population

Ramenghi, U.; Garelli, E.; Valtolina, S.; Campagnoli, M.F. et al.

Part of British Journal of Haematology, p. 841-8, 1999

• DOI for Diamond-Blackfan anaemia in the Italian population

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Maugeri, A.; van Driel, M.A.; van de Pol, D.J.; Klevering, B.J. et al.

Part of American Journal of Human Genetics, p. 1024-35, 1999

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Cossee, Mireille; Durr, Alexandra; Schmitt, Michèle; Dahl, Niklas et al.

Part of Annals of Neurology, p. 200-206, 1999

• DOI for Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Melberg, A; Oldfors, A; Blomström-Lundqvist, C; Stålberg, E et al.

Part of Ann Neurol, p. 684-92, 1999

High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP)

Willig, T.N.; Pérignon, J.L.; Gustavsson, P.; Gane, P. et al.

Part of Blood, p. 4422-7, 1998

Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

Balciuniene, Jorune; Dahl, Niklas; Borg, Erik; Samuelsson, Eva et al.

Part of American Journal of Human Genetics, p. 786-93, 1998

• DOI for Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

Pigg, Maritta; Gedde-Dahl Jr, Tobias; Cox, Diane; Hausser, Ingrid et al.

Part of European Journal of Human Genetics, p. 589-96, 1998

Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

Arnell, Henrik; Mäntyjärvi, Maija; Tuppurainen, Kaija; Andreasson, Sten et al.

Part of Acta Ophthalmologica Scandinavica, p. 649-52, 1998

• DOI for Stargardt disease: linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

Arnell, Henrik; Hjalmas, Kelm; Jagervall, Martin; Läckgren, Göran et al.

Part of Journal of Medical Genetics, p. 360-5, 1997

• DOI for The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22

Arnell, Henrik; Nemeth, Antal; Annerén, Göran; Dahl, Niklas

Part of Human Genetics, p. 378-381, 1997

• DOI for Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22

Glycerol kinase deficiency in two brothers with and without clinical manifestations

Blomquist, H. K:son; Dahl, Niklas; Gustafsson, L.; Hellerud, C. et al.

Part of Clinical Genetics, p. 375-9, 1996

Genetic homogeneity of autoimmune polyglandular disease type I

Björses, P; Aaltonen, J; Vikman, A; Perheentupa, J et al.

Part of Am J Hum Genet, p. 879-886, 1996

New connexin32 muations associated with X-linked Charcot-Marie-Tooth disease

Bone, L.; Dahl, Niklas; Lensch, M.; Chance, P. et al.

Part of Neurology, p. 1863-6, 1995

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome

Bondeson, Marie-Louise; Dahl, Niklas; Malmgren, Helena; Kleijer, Wim J. et al.

Part of Human Molecular Genetics, p. 615-621, 1995

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

Bondeson, Marie-Louise; Malmgren, Helena; Dahl, Niklas; Carlberg, Britt-Marie et al.

Part of European Journal of Human Genetics, p. 219-227, 1995

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

Annerén, Göran; Dahl, Niklas; Uddenfeldt, Ulrika; Janols, Lars-Olof

Part of American Journal of Medical Genetics, p. 330-1, 1995

• DOI for Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

Frequency of four cystic fibrosis mutations in a Swedish population

Dahl, Niklas; Grandell, U.; Martinsson, T.; Allen, Marie et al.

Part of Acta Paediatrica, p. 609, 1993

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Vlachos, Adrianna; Ball, Sarah; Dahl, Niklas; Alter, Blanche P. et al.

Part of British Journal of Haematology, p. 859-876, 2008

• DOI for Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

Carlsson, Göran; Melin, Malin; Dahl, Niklas; Ramme, Kim Göransdotter et al.

Part of Acta Paediatrica, p. 813-819, 2007

• DOI for Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

Differential expression of RPS19 5’UTR variants implicated in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Gidlöf, Olof; Schuster, Jens et al.

2012

A Meniere’s disease gene maps to a 463 kb region on chromosome 12p12.3

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