N. Dahl

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

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

E. Stålberg, H. Kalimo, N. Dahl, 2010, Muscle & nerve.

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

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

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

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

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

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

siRNA Silencing of Proteasome Maturation Protein (POMP) Activates the Unfolded Protein Response and Constitutes a Model for KLICK Genodermatosis

N. Dahl, H. Törmä, J. Badhai, 2012, PloS one.

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

H. Willard, G. Annéren, J. Chelly, 1999, European Journal of Human Genetics.

Autosomal dominant cerebellar ataxia deafness and narcolepsy

J. Hetta, N. Dahl, P. Lundberg, 1995, Journal of the Neurological Sciences.

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

U. Pettersson, E. Jazin, J. Balciuniene, 1998, American journal of human genetics.

Use of linked DNA probes for carrier detection and diagnosis of X-linked juvenile retinoschisis.

U. Pettersson, N. Dahl, 1988, Archives of ophthalmology.

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

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

Alpha-cardiac actin mutations produce atrial septal defects.

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

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

J. Mandel, D. Cohen, V. Biancalana, 1995, American journal of human genetics.

Glycerol kinase deficiency in two brothers with and without clinical manifestations

E. Holme, G. Holmgren, N. Dahl, 1996, Clinical Genetics.

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

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

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

S. Bione, D. Toniolo, J. Peluso, 2008, Human molecular genetics.

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

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

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

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

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

L. D. Da Costa, E. Nieuwenhuis, M. Bartels, 2022, Genes.

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

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

Recurrent GATA1 mutations in Diamond‐Blackfan anaemia

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

IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIA (DBA) LOCUS ON 19Q13 AND EVIDENCE FOR GENETIC HETEROGENEITY

I. Dianzani, H. Cario, N. Olivieri, 1998, Pediatric Research.

Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease

N. Dahl, L. Hasholt, Maria Lagerstrom Fermer, 1995, Human mutation.

Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors.

P. Carlsson, N. Dahl, J. Schuster, 2020, Stem cell research.

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

G. Westermark, N. Dahl, A. Vahlquist, 2012, Archives of Dermatological Research.

Genetic Homogeneity of Autoimmune Polyglandular Disease

Smith, M., S. M., 2007 .

Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.

U. Pettersson, N. Dahl, M. Lagerström, 1990, American journal of human genetics.

Benign ovarian teratomas. An analysis of their cellular origin.

U. Pettersson, N. Dahl, I. Gustavsson, 1990, Cancer Genetics and Cytogenetics.

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

G. Holmgren, U. Pettersson, E. Seemanová, 1989, American journal of human genetics.

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

J. Rastad, E. Brown, E. Szabo, 2000, The Journal of clinical endocrinology and metabolism.

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

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

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

A. Smahi, B. Peterlin, Pierre Vabres, 1994, Human molecular genetics.

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

H. Engler, R. Raininko, N. Darín, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus

G. Annéren, N. Dahl, P. Zetterqvist, 1995, Clinical genetics.

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

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

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

G. Annéren, H. Arnell, A. Németh, 1997, Human Genetics.

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

M. Dichgans, R. Raininko, S. Hassin-Baer, 2011, neurogenetics.

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).

P. Gane, J. Stéphan, J. Cartron, 1998, Blood.

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

J. Palmblad, B. Fadeel, M. Nordenskjöld, 2007, Acta paediatrica.

Frizzled6 deficiency disrupts the differentiation process of nail development

D. Schlessinger, S. Baig, N. Dahl, 2013, The Journal of investigative dermatology.

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.

U. Pettersson, E. Jazin, P. Jalonen, 1999 .

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

C. Blomström-Lundqvist, E. Stålberg, G. Wikström, 1999, Annals of neurology.

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.

U. Pettersson, N. Dahl, M. Lagerström, 1990, American journal of human genetics.

R. Raininko, J. Finnsson, N. Dahl, 2015, Annals of neurology.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

C. Mathew, F. Rousseau, A. Barnicoat, 1994, American journal of human genetics.

A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x‐linked charcot‐marie‐tooth disease

G. Annéren, N. Dahl, A. Sillén, 1998, Human mutation.

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

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

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

A. Virtanen, N. Dahl, J. Schuster, 2010, Blood Cells, Molecules & Diseases.

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

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

Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families

M. Starborg, M. Anvret, M. Nordenskjöld, 1991, Clinical genetics.

Prenatal prediction of cystic fibrosis in a mother homozygous for the ΔF508 mutation

N. Dahl, H. Kollberg, 1992 .

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

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

Nα-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*

B. Fadeel, J. Lehtiö, A. Nordström, 2009, The Journal of Biological Chemistry.

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

L. Cavelier, N. Dahl, J. Schuster, 2015, Stem cells and development.

Complex genetic counseling and exclusion of duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF)

M. Anvret, N. Dahl, L. Garoff, 1994, Journal of Assisted Reproduction and Genetics.

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)

N. Dahl, J. Schuster, I. S. Poromaa, 2010, Reproductive biology and endocrinology : RB&E.

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

S. Baig, M. Rasool, Muhammad Tariq, 2008, Journal of Human Genetics.

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

N. Dahl, J. Schuster, M. Sobol, 2020, Stem Cell Research.

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

V. Biancalana, N. Dahl, M. Mathieu, 1995, American journal of human genetics.

Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013

I. Dianzani, J. Lipton, N. Dahl, 2013, European Journal of Human Genetics.

Clinical utility gene card for: Diamond Blackfan anemia

I. Dianzani, J. Lipton, N. Dahl, 2011, European Journal of Human Genetics.

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

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

Cross Talks in Swiss Psychiatry. 26th Annual Meeting of the Swiss Society of Biological Psychiatry

C. Gillberg, C. Betancur, S. Tuinier, 2006, Neuropsychobiology.

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

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

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

J. Rastad, E. Brown, E. Szabo, 2000, Journal of Clinical Endocrinology and Metabolism.

Marrow failure.

E. Guinan, A. D’Andrea, A. Shimamura, 2002, Hematology. American Society of Hematology. Education Program.

Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A.

N. Dahl, J. Schuster, M. Sobol, 2021, Stem cell research.

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

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

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

P. Nilsson, I. Dianzani, A. Haeringen, 1997, Nature Genetics.

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

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

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

D. Cox, N. Dahl, I. Hausser, 1998, European Journal of Human Genetics.

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

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

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

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

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

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

Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci

G. Ommen, U. Pettersson, G. V. Ommen, 1989, Clinical genetics.

Mutations and phenotype in isolated glycerol kinase deficiency.

J. Chelly, A. Walker, P. Willems, 1996, American journal of human genetics.

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

E. Stålberg, G. Wikström, N. Dahl, 1999 .

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

W. Reardon, V. Shashi, N. Dahl, 2007, European Journal of Human Genetics.

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

M. Sundvall, U. Pettersson, G. Annéren, 1997, Journal of medical genetics.

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

S. Karlsson, S. Sheth, T. Leblanc, 2008, British journal of haematology.

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

S. Karlsson, G. Ronquist, K. Miyake, 2006, Blood cells, molecules & diseases.

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

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

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

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

X. Estivill, J. Kere, J. Bertranpetit, 1994, Nature Genetics.

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

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

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

W J Kleijer, U. Pettersson, M. Bondeson, 1995, Human molecular genetics.

Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.

P. Sullivan, J. Bryois, P. Uhlén, 2019, Experimental cell research.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Jeffrey D. Mandell, Stephan J Sanders, N. Freimer, 2018, Cell reports.

University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette

Jeffrey D. Mandell, J. Buxbaum, P. Paschou, 2018 .

Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.

H. Willard, A. Higgins, N. Dahl, 2000, Genomics.

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

C. Cremers, M. Bitner-Glindzicz, H. Brunner, 1996, Human molecular genetics.

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

A. Poustka, J. Mandel, W. Kress, 1996, Human molecular genetics.

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Å. Borg, N. Loman, O. Johannsson, 1997, American journal of human genetics.

Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease

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

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

A. Poustka, J. Mandel, J. Laporte, 1997, Genomics.

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

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

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

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

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

N. Dahl, J. Schuster, J. Badhai, 2009, Biochimica et biophysica acta.

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

Bengt Fadeel, Bodo Grimbacher, Alejandro A Schäffer, 2007, Nature Genetics.

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

P. Westermark, N. Dahl, A. Gånemo, 2003, Acta dermato-venereologica.

Posttranscriptional down‐regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency

H. R. Razzaghian, N. Dahl, J. Schuster, 2009, FEBS letters.

DNA linkage analysis of X-linked retinoschisis

U. Pettersson, M. Anvret, N. Dahl, 1988, Human Genetics.

Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304.

P. Bosco, W. Brown, U. Pettersson, 1991, American journal of medical genetics.

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

A. Vanderver, J. Bouchard, C. Toro, 2013, Human mutation.

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

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

Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.

B. V. van Oost, A. Smits, D. Smeets, 1991, American journal of medical genetics.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

M. Daly, H. Stefánsson, R. Ophoff, 2022, Translational Psychiatry.

The role of hMLH3 in familial colorectal cancer.

A. Lindblom, B. Werelius, N. Dahl, 2003, Cancer research.

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

L. Bolund, D. Vetrie, A. Piotrowski, 2005, Journal of Medical Genetics.

Prognosis and clinical presentation of BRCA2-associated breast cancer.

Å. Borg, N. Loman, O. Johannsson, 2000, European journal of cancer.

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

G. Schulte, F. Levy, N. Dahl, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

Koichi Miyake, Johan Richter, Hans Matsson, 2005, Blood.

Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

S. Karlsson, N. Dahl, I. Hamaguchi, 2004, Molecular and Cellular Biology.

Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.

Johan Richter, S. Karlsson, J. Richter, 2002, Blood.

Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer.

Hiroshi Nishiura, Johan Richter, H. Nishiura, 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

Chromosome 19q13 Blackfan Anemia (DBA) Cosegregates With the DBA Gene Region on High Adenosine Deaminase Level Among Healthy Probands of Diamond

P. Gane, N. Dahl, R. Girot, 2013 .

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

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

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

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

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

I. Dianzani, C. Niemeyer, A. Brusco, 1999, Blood.

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

O. Gidlöf, N. Dahl, J. Schuster, 2011, PloS one.

The ribosomal basis of diamond‐blackfan anemia: mutation and database update

Mutlu Kartal, Thierry Leblanc, A. Beggs, 2010, Human mutation.

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Richard J. Thompson, N. Freimer, G. Mieli-Vergani, 1998, Nature Genetics.

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

V. Giedraitis, N. Dahl, A. Melberg, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

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

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

J. Eisfeldt, D. Nilsson, A. Lindstrand, 2022, Frontiers in Genetics.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

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

Sara B. Linker, F. Gage, S. Linker, 2018, Molecular Psychiatry.

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

Claudio Santoro, Umberto Dianzani, A. Chiocchetti, 2005, Haematologica.

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

L. Feuk, S. Hooper, L. Cavelier, 2012, BMC Medical Genetics.

Presence of an IDS-Related Locus (IDS2) in Xq28 Complicates the Mutational Analysis of Hunter Syndrome

M. Bondeson, N. Dahl, Ulf Pettersson, 1995, European journal of human genetics : EJHG.

PRENATAL DIAGNOSIS OF X‐LINKED MYOTUBULAR MYOPATHY: STRATEGIES USING NEW AND TIGHTLY LINKED DNA MARKERS

W. Kress, J. Laporte, N. Dahl, 1996, Prenatal diagnosis.

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

J. Mandel, J. Laporte, C. Kretz, 1998, Human molecular genetics.

X-linked myotubular myopathy: Refinement of the critical gene region

J. Laporte, W. Kress, N. Dahl, 1996, Neuromuscular Disorders.

A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

S. Klauck, A. Poustka, J. Mandel, 1996, Nature Genetics.

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

M. Fardeau, J. Gouyon, N. Dahl, 1995, American journal of human genetics.

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

A. Poustka, J. Mandel, G. Herman, 1994, Journal of medical genetics.

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

E. Bongcam-Rudloff, N. Dahl, A. Martinez Barrio, 2009, PloS one.

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

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

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

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

Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia.

M. Freedman, M. Carcao, N. Dahl, 2003, Journal of pediatric hematology/oncology.

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

H. Cario, E. Kohne, N. Dahl, 1999, Clinical genetics.

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

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

A Case of Complete Trisomy 2p/Triploidy Mosaicism

N. Dahl, K. Gustavson, I.‐L. Eliasson, 1988, Acta Paediatrica Scandinavica.

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

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

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

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

ResearchDown-regulation of progesterone receptor membrane component 1 ( PGRMC 1 ) in peripheral nucleated blood cells associated with premature ovarian failure ( POF ) and polycystic ovary syndrome ( PCOS )

N. Dahl, J. Schuster, P. Karlström, 2015 .

membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

N. Dahl, J. Schuster, P. Karlström, 2010 .

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

Peter Gustavsson, C. Larsson, N. Dahl, 2005, European Journal of Human Genetics.

A candidate region for Asperger syndrome defined by two 17p breakpoints

C. Gillberg, D. Tentler, M. Johansson, 2003, European Journal of Human Genetics.

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

B. Fadeel, M. Nordenskjöld, N. Dahl, 2009, Pediatric blood & cancer.

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

J. Palmblad, B. Fadeel, I. van't Hooft, 2008, Journal of internal medicine.

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

G Carlsson, J. Palmblad, B. Fadeel, 2007, Biochemical and biophysical research communications.

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

K. Fischbeck, M. Lensch, P. Chance, 1995, Neurology.

Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss.

E. Borg, N. Dahl, E. Samuelsson, 2000, Acta oto-laryngologica.

Alpha-tectorin involvement in hearing disabilities: one gene – two phenotypes

U. Pettersson, E. Jazin, P. Jalonen, 1999, Human Genetics.

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

A. Nordgren, B. Anderlid, N. Dahl, 2019, Stem cell research.

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

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

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

Å. Borg, G. Jönsson, J. Staaf, 2006, Clinical genetics.

Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304.

G. Holmgren, U. Pettersson, E. Seemanová, 1991, American journal of medical genetics.

Molecular characterization of a DNA probe, U6.2, located close to the fragile X locus.

W. Brown, U. Pettersson, R. Pergolizzi, 1991, American journal of medical genetics.

The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.

J. Mandel, U. Pettersson, A. Hanauer, 1989, Genomics.

A polymorphic locus at Xq27-28 detected by the probe U6.2 [DXS304].

U. Pettersson, G. V. van Ommen, N. Dahl, 1989, Nucleic acids research.

Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies

N. Dahl, P. Hillborg, A. Olofsson, 1993, Human Genetics.

Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)

C. Wadelius, G. Annéren, N. Dahl, 1992, Prenatal diagnosis.

Simplified detection of Nci mutation in Gaucher disease

U. Pettersson, N. Dahl, A. Erikson, 1990, The Lancet.

Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.

U. Pettersson, N. Dahl, A. Erikson, 1988, Genomics.

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

G. Annéren, N. Dahl, J. Schuster, 2020, Stem cell research.

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

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

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.

K Rohrschneider, A Blankenagel, B. J. Klevering, 1999, American journal of human genetics.

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

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

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

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

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

R. Raininko, J. Hetta, S. Valind, 1999, Neurology.

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

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

Frequency of four cystic fibrosis mutations in a Swedish population

B. Strandvik, U. Gyllensten, M. Allen, 1993, Acta paediatrica.

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

S. Thibodeau, C. Schwartz, I. Glass, 1991, American journal of human genetics.

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.

B. Zabel, E. Schwinger, J. Hopwood, 1992, American journal of medical genetics.

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.

C. P. Morris, U. Pettersson, J. Hopwood, 1992, Human molecular genetics.

Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.

D. Ledbetter, G. Sutherland, D. Callen, 1991, American journal of medical genetics.

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers

C. Julier, L. Simard, C. Moraine, 2004, Human Genetics.

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

N. Galjart, D. Tibboel, R. Hofstra, 2016, Human molecular genetics.

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

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

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.

N. Dahl, J. Schuster, M. Sobol, 2019, Stem cell research.

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

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

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

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

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

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

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.

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

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

L. Feuk, A. Ameur, G. Annéren, 2015, Cellular reprogramming.

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

E. Stålberg, E. Holme, R. Raininko, 1996, Muscle & nerve.

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

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

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

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

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

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

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

M. Friedländer, Johan Reimegård, N. Dahl, 2021, Communications Biology.

Aniridia with PAX6 mutations and narcolepsy

M. Partinen, A. Markström, S. Berntsson, 2020, Journal of sleep research.

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

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

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

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

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

M. Bondeson, N. Dahl, L. Grip, 2004 .

Rapid detection of a mutation hot‐spot in the human androgen receptor

N. Dahl, H. Malmgren, T. Tuvemo, 1996, Clinical genetics.

Linkage mapping of a severe X-linked mental retardation syndrome.

C. Wadelius, M. Sundvall, U. Pettersson, 1993, American journal of human genetics.

Screening for copy number alterations in loci associated with autism spectrum disorders by two‐color multiplex ligation‐dependent probe amplification

J. Schoumans, M. Nordenskjöld, K. Brøndum‐Nielsen, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2

N. Dahl, J. Klar, V. Ponjavic, 2006, Ophthalmic genetics.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Jeffrey D. Mandell, Stephan J Sanders, N. Freimer, 2018, Cell reports.

Constitutional down-regulation of SEMA 5 A expression in autism

C. Gillberg, C. Betancur, A. Isaksson, 2016 .

Constitutional Downregulation of SEMA5A Expression in Autism

C. Gillberg, C. Betancur, A. Isaksson, 2006, Neuropsychobiology.

Strong Founder Effect for the Fragile X Syndrome in Sweden

G. Holmgren, N. Dahl, H. Malmgren, 1994, European journal of human genetics : EJHG.

Linkage homogeneity near the fragile X locus in normal and fragile X families.

S. Thibodeau, C. Schwartz, I. Glass, 1991, Genomics.

Genetic mapping of loci for X‐linked retinitis pigmentosa

M. Sundvall, U. Pettersson, M. Anvret, 1991, Clinical genetics.

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

C. Gillberg, C. Betancur, E. Green, 2001, American journal of medical genetics.

Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family.

H. Kalimo, O. Eeg‐Olofsson, N. Dahl, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

A. Nordgren, B. Birnir, D. Nilsson, 2019, Front. Genet..

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

D. Absher, T. de Ståhl, J. Dumanski, 2010, American journal of medical genetics. Part A.

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

N. Dahl, J. Schuster, E. Stattin, 2009, European journal of medical genetics.

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

Sijie He, Jianguo Zhang, S. Baig, 2019, Journal of Clinical Neuroscience.

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

S. Baig, N. Dahl, M. Tariq, 2014, European Journal of Human Genetics.

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.

G. Annéren, N. Dahl, H. Malmgren, 1993, American journal of medical genetics.

Abolished InsP 3 R 2 function inhibits sweat secretion in both humans and mice

L. Feuk, K. Mikoshiba, A. Ameur, 2014 .

Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions.

N. Dahl, J. Schuster, A. Falk, 2016, Stem cell research.

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.

N. Dahl, J. Schuster, J. Klar, 2019, Stem cell research.

Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome

C. Wadelius, G. Holmgren, G. Ommen, 1989, Human Genetics.

Linkage Analysis ofFamilies withFragile-X MentalRetardation, Using a NovelRFLPMarker(DXS304)

G. Holmgren, E. Seemanová, N. Dahl, 1989 .

[Incontinentia pigmenti. A rare disease with many symptoms].

G. Holmström, N. Dahl, B. Bergendal, 2002, Lakartidningen.

X-Linked Progressive MixedDeafness: A New Microdeletion ThatInvolves a MoreProximal RegioninXq2 I

V. Biancalana, N. Dahl, M. Mathieu, 1995 .

Infantile autism--fragile X: molecular findings support genetic heterogeneity.

U. Pettersson, N. Dahl, H. Malmgren, 1992, American journal of medical genetics.

Study of individuals possibly affected with the fragile X syndrome in a large Swedish family in the 18th to 20th centuries.

G. Holmgren, N. Dahl, H. Malmgren, 1992, American journal of medical genetics.

Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia.

K. Chandy, G. Gutman, J. Gargus, 1998, Genomics.

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

S. Baig, N. Dahl, J. Klar, 2013, European journal of medical genetics.

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

S. Baig, R. Raininko, N. Dahl, 2014, BMC Medical Genetics.

How can the frequency of false-negative findings in prenatal diagnoses of fra(X) be reduced: experience with first trimester chorionic villi sampling.

I. Kennerknecht, N. Dahl, G. Barbi, 1991, American journal of medical genetics.

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

M. Toft, S. Efthymiou, H. Houlden, 2023, Genes.

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

S. Baig, N. Dahl, J. Wikström, 2019, Human mutation.

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

M. Friedländer, Johan Reimegård, N. Dahl, 2021 .

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

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

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

G. Annéren, N. Dahl, G. Läckgren, 2006, Human Genetics.

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

M. Friedländer, Johan Reimegård, N. Dahl, 2021, Communications biology.

Multiple epiphyseal dysplasia

N. Dahl, K. Gustavson, T. Lönnerholm, 2009, Acta orthopaedica.

A clinical and genetic study of 12 cases in a Swedish 6-generation family

N. Dahl, K. Gustavson, T. Lönnerholm, 2009 .

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

R. Raininko, J. Hetta, S. Valind, 1999, Neurology.

An irradiation-reduced hybrid panel for fine-structure mapping of the Xq28 region in the human genome.

A. Smahi, B. Peterlin, N. Dahl, 1993, Cytogenetics and cell genetics.

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

D. Cox, N. Dahl, M. Pigg, 2000, Prenatal diagnosis.

Malignant Osteopetrosis: c-src kinase is not reduced in fibroblasts

N. Dahl, S. Påhlman, G. Meyerson, 1993, Calcified Tissue International.

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

G. Annéren, N. Dahl, L. Janols, 1995, American journal of medical genetics.

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

N. Dahl, J. Farrar, 2011, Seminars in hematology.

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

A. Virtanen, N. Dahl, J. Schuster, 2010, Blood cells, molecules & diseases.

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

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