M. Nordenskjöld

I. Kockum, C. Söderhäll, M. Nordenskjöld, 2006, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Application of single‐needle blastomere biopsy in human preimplantation genetic diagnosis

E. Blennow, M. Nordenskjöld, E. Iwarsson, 1998, Prenatal diagnosis.

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

M. Nordenskjöld, Kristina Lagerstedt-Robinson, E. Tham, 2022, PloS one.

Disruption of tubular Flcn expression as a mouse model for renal tumor induction.

Ximing J. Yang, Karl J. Dykema, Dachuan Huang, 2015, Kidney international.

Clinical and genetic studies of Birt-Hogg-Dubé syndrome

S. Richard, B. Teh, S. Khoo, 2002, Journal of medical genetics.

Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target.

P. Siesjö, M. Nordenskjöld, C. Taher, 2011, The Journal of clinical investigation.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

P. Georgii‐Hemming, A. Nordgren, J. Eisfeldt, 2019, Genome Medicine.

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.

J. Palmblad, B. Fadeel, M. Nordenskjöld, 2006, Haematologica.

Survivin expression in the bone marrow of patients with severe congenital neutropenia

J. Palmblad, A. Porwit, B. Fadeel, 2009, Leukemia.

Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles

A. Nordgren, E. Blennow, D. Grandér, 2005, European journal of haematology.

Kostmann disease and other forms of severe congenital neutropenia

B. Fadeel, M. Nordenskjöld, B. Sandstedt, 2021, Acta paediatrica.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Early prenatal diagnosis of the ICF syndrome

C. Wijmenga, M. Nordenskjöld, T. Bui, 2000, Prenatal diagnosis.

First Report on Metastasizing Small Bowel Carcinoids in First-Degree Relatives in Three Generations

F. Sundler, N. Wierup, M. Nordenskjöld, 2010, Neuroendocrinology.

Global Expression Profiling in Atopic Eczema Reveals Reciprocal Expression of Inflammatory and Lipid Genes

Howard Y. Chang, A. Scheynius, A. Adler, 2008, PloS one.

Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype

B. Berne, M. Nordenskjöld, M. Winge, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

Frequent amplification of the telomerase reverse transcriptase gene in human tumors.

A. Zetterberg, E. Blennow, M. Henriksson, 2000, Cancer research.

Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene

E. Friedman, C. Stratakis, M. Nordenskjöld, 1996, Human Genetics.

CTNND2—a candidate gene for reading problems and mild intellectual disability

J. Kere, T. Klingberg, F. Vezzi, 2014, Journal of Medical Genetics.

Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases.

C. Larsson, A. Lindblom, L. Skoog, 1993, Cancer research.

Loss of heterozygosity in familial breast carcinomas.

C. Larsson, A. Lindblom, L. Skoog, 1993, Cancer research.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients

W. Al-Herz, S. Ehl, H. Ljunggren, 2017, Front. Immunol..

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

H. Ljunggren, B. Fadeel, M. Nordenskjöld, 2007, Journal of Medical Genetics.

Prostaglandin synthase-catalyzed metabolic of some aromatic amines to genotoxic products

M. Nordenskjöld, P. Moldéus, A. Rahimtula, 1984 .

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

B. Teh, A. Nordgren, C. Ruivenkamp, 2005, European Journal of Human Genetics.

Linkage analysis with markers on 17q in 29 Swedish breast cancer families.

C. Larsson, A. Lindblom, M. Nordenskjöld, 1993, American journal of human genetics.

Molecular Cytogenetic Approach to the Diagnosis of Splenic Lymphoma: A Case Report of Blastoid Mantle Cell Lymphoma

M. Björkholm, J. Schoumans, M. Nordenskjöld, 2003, Leukemia & lymphoma.

Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene.

B. Teh, M. Henriksson, J. Sedivy, 2003, Cancer research.

Advances in Brief Molecular Characterization of Human Telomerase Reverse Transcriptase-immortalized Human Fibroblasts by Gene Expression Profiling : Activation of the Epiregulin Gene 1 , 2

B. Teh, M. Henriksson, J. Sedivy, 2003 .

A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes.

A. Nordgren, E. Blennow, M. Nordenskjöld, 1997, Cancer genetics and cytogenetics.

X‐linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments

B. Berne, M. Nordenskjöld, M. Winge, 2012, The British journal of dermatology.

The effect of gossypol on the frequency of DNA-strand breaks in human leukocytes in vitro.

S. Matlin, M. Nordenskjöld, B. Lambert, 1986, Mutation research.

Induction of cell damage by menadione and benzo(a)pyrene-3,6-quinone in cultures of adult rat hepatocytes and human fibroblasts.

D. D. Di Monte, M. Nordenskjöld, B. Jernström, 1985, Toxicology letters.

Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols

A. Nordgren, M. Heyman, M. Nordenskjöld, 2013, Leukemia.

The tight junction gene Claudin‐1 is associated with atopic dermatitis among Ethiopians

M. Nordenskjöld, S. Asad, M. Winge, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer.

C. Larsson, E. Friedman, M. Nordenskjöld, 1993, The Journal of clinical endocrinology and metabolism.

Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.

V. P. Collins, J. Dumanski, G. Rouleau, 1990, Cancer research.

Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression

V. P. Collins, A. Lindblom, J. Dumanski, 1994, International journal of cancer.

SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED)

O. Mäkitie, A. Nordgren, E. Moström, 2015, Clinical genetics.

Syntaxin‐11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG‐opsonized target cells

B. Fadeel, M. Nordenskjöld, T. Celkan, 2008, British journal of haematology.

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.

H. Ljunggren, J. Stow, M. Nordenskjöld, 2009, Blood.

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

O. Mäkitie, A. Nordgren, E. Moström, 2014, American journal of medical genetics. Part A.

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

Marion E. Schneider, B. Fadeel, C. Söderhäll, 2001, American journal of human genetics.

Low plasma levels of the protein pro‐LL‐37 as an early indication of severe disease in patients with chronic neutropenia

J. Palmblad, B. Fadeel, M. Nordenskjöld, 2007, British journal of haematology.

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

D. El-Ghoneimy, M. Nordenskjöld, S. Unal, 2015, Pediatric blood & cancer.

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization

E. Blennow, G. Annéren, M. Nordenskjöld, 1994, Prenatal diagnosis.

Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.

N. Carter, C. Larsson, E. Blennow, 1994, American journal of human genetics.

Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

E. Blennow, G. Annéren, M. Nordenskjöld, 1993, American journal of human genetics.

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

D. Nilsson, M. Nordenskjöld, S. Asad, 2015, The Journal of allergy and clinical immunology.

Increased frequency of sister chromatid exchanges in cigarette smokers.

B. Werelius, M. Nordenskjöld, B. Lambert, 2009 .

Reactive products formed by peroxidase catalyzed oxidation of p-phenetidine.

D. Ross, M. Nordenskjöld, P. Moldéus, 1984, Chemico-biological interactions.

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis

M. Nordenskjöld, S. Asad, M. Winge, 2017, Pediatric dermatology.

Four separate regions on chromosome 17 show loss of heterozygosity in familial breast carcinomas

C. Larsson, A. Lindblom, L. Skoog, 1993, Human Genetics.

Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome

M. Torroella, A. Lindblom, L. Skoog, 1994, Human Genetics.

Hereditary breast cancer in sweden: a predominance of maternally inherited cases

C. Larsson, A. Lindblom, M. Nordenskjöld, 2005, Breast Cancer Research and Treatment.

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

W. Al-Herz, M. Nordenskjöld, H. Hasle, 2010, Blood.

Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?

Å. Borg, A. Nordgren, E. Blennow, 2007, Leukemia.

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO‐ALL 2000 protocol

A. Nordgren, E. Blennow, M. Heyman, 2011, British journal of haematology.

Interphase fluorescent in situ hybridization deletion analysis of the 9 p 21 region and prognosis in childhood acute lymphoblastic leukaemia ( ALL ) : results from a prospective analysis of 519 Nordic patients

A. Nordgren, E. Blennow, M. Heyman, 2011 .

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.

Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

B. Fadeel, M. Nordenskjöld, A. Gürgey, 2002, Human Genetics.

Lack of association between filaggrin gene mutations and onset of psoriasis in childhood

M. Nordenskjöld, P. Nikamo, M. Winge, 2013, Journal of the European Academy of Dermatology and Venereology : JEADV.

Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity

B. Fadeel, M. Nordenskjöld, J. Henter, 2009, Haematologica.

Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5.

E. Blennow, M. Nordenskjöld, E. Iwarsson, 1998, Molecular human reproduction.

Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus

C. Larsson, G. Evans, K. Lewis, 1992, Human Genetics.

Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors.

C. Larsson, R. Fahlbusch, E. Friedman, 1994, The Journal of clinical endocrinology and metabolism.

4th Pediatric Allergy and Asthma Meeting (PAAM)

Manuel A. R. Ferreira, C. Gieger, D. Postma, 2016, Clinical and Translational Allergy.

Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line

I. Ernberg, B. Fadeel, J. Schoumans, 2005, Leukemia.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3

M. Nordenskjöld, J. Henter, Y. Bryceson, 2013, British journal of haematology.

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

D. Nilsson, M. Nordenskjöld, J. Henter, 2013, Front. Immunol..

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

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

The biology of inherited cancer.

A. Lindblom, M. Nordenskjöld, 2000, Seminars in cancer biology.

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

B. Johansson, A. Nordgren, J. Schoumans, 2014, Leukemia.

Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

L. Saft, R. Rosenquist, M. Nordenskjöld, 2022, Frontiers in Oncology.

Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.

V. P. Collins, J. Dumanski, M. Nordenskjöld, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer.

M. Nordenskjöld, E. Tham, K. Hellman, 2022, Gynecologic oncology.

The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells.

B. Fadeel, J. Zierath, M. Nordenskjöld, 2010, Molecular immunology.

Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.

C. Larsson, K. Sandelin, B. Skogseid, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Hematopoietic stem cell transplantation in severe congenital neutropenia

J. Palmblad, B. Fadeel, P. Ljungman, 2011, Pediatric blood & cancer.

Characterization of PRF1, STX11 and UNC13D genotype‐phenotype correlations in familial hemophagocytic lymphohistiocytosis

M. Nordenskjöld, A. Gürgey, A. Horne, 2008, British journal of haematology.

Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

M. Nordenskjöld, M. Abdelhaleem, A. Horne, 2020, Pediatric blood & cancer.

Family Screening in Multiple Endocrine Type 1 (MEN 1) Neoplasia

C. Larsson, M. Nordenskjöld, 1994 .

One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre.

E. Blennow, M. Nordenskjöld, H. Malmgren, 2012, Human reproduction.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

O. Mäkitie, A. Nordgren, D. Nilsson, 2013, Journal of Medical Genetics.

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities

E. Blennow, L. Ährlund‐Richter, M. Nordenskjöld, 2001, Prenatal diagnosis.

A high degree of aneuploidy in frozen-thawed human preimplantation embryos

E. Blennow, L. Ährlund‐Richter, M. Nordenskjöld, 1999, Human Genetics.

with follicular lymphoma High expression of cyclin B 1 predicts a favorable outcome in patients

Erik Björck, Sara Ek, M. Ehinger, 2004 .

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

S. Holland, V. Cetica, A. Hsu, 2015, The Journal of allergy and clinical immunology.

Cloning and characterization of a novel human gene related to vascular endothelial growth factor.

P. Pollock, N. Hayward, S. Grimmond, 1996, Genome research.

CHROMOSOME ABERRATIONS AND SISTER-CHROMATID EXCHANGE IN WORKERS IN CHEMICAL LABORATORIES AND A ROTOPRINTING FACTORY AND IN CHILDREN OF WOMEN LABORATORY WORKERS

J. Lindsten, M. Nordenskjöld, B. Kolmodin-Hedman, 1977, The Lancet.

Genetic toxicity of dopamine.

M. Nordenskjöld, P. Moldéus, B. Lambert, 1983, Mutation research.

Eva Enmark, Markku Pelto-Huikko, Kaj Grandien, 2022 .

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Eric O Long, H. Ljunggren, M. Nordenskjöld, 2007, Blood.

Loss of constitutional heterozygosity in human cancer.

W. Cavenee, M. Nordenskjöld, M Nordenskjöld, 1991, Annual review of genetics.

Effects of ultraviolet light and cyclophosphamide on replication and repair synthesis of DNA in isolated rat liver cells and human leukocytes co-incubated with microsomes.

M. Nordenskjöld, P. Moldéus, B. Lambert, 2009, Hereditas.

Differences in the repair of DNA strand breaks induced by 9-hydroxy-benzo(a)pyrene and trans-7,8-dihydro-7,8-dihydroxy-benzo(a)pyrene in cultured human fibroblasts.

M. Nordenskjöld, P. Moldéus, B. Jernström, 1978, Biochemical and biophysical research communications.

Strand-break formation in DNA modified by benzo[alpha]pyrene diolepoxide. Quantitative cleavage by Escherichia coli uvrABC endonuclease.

E. Seeberg, M. Nordenskjöld, B. Jernström, 1983, Mutation research.

Induction and repair of DNA strand breaks in cultured human fibroblasts exposed to various phenols and dihydrodiols of benzo[a]pyrene.

M. Nordenskjöld, B. Jernström, 1982, Chemico-biological interactions.

Loss of heterozygosity in human ductal breast tumors indicates a recessive mutation on chromosome 13.

W. Cavenee, L. Skoog, M. Nordenskjöld, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

Olivier Delattre, G. Thomas, O. Delattre, 1994, Nature Genetics.

Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.

I. Ernberg, E. Blennow, B. Fadeel, 2006, International journal of oncology.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Neuroscience.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

B. Coe, K. Friend, P. Lockhart, 2017, Nature Genetics.

Characterization of add(I)(p36) in non‐hodgkin lymphomas by fluorescence in situ hybridization

P. Pisa, M. Nordenskjöld, K. Brøndum‐Nielsen, 1995 .

Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment

J. Kere, E. Blennow, C. Betsholtz, 2014, Nature Communications.

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas.

Kui Wu, L. Pasqualucci, Yixin Zeng, 2016, Blood.

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers

E. Blennow, L. Ährlund‐Richter, M. Nordenskjöld, 2000, Prenatal diagnosis.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

Mapping of a new MAP kinase activated protein kinase gene (3PK) to human chromosome band 3p21.2 and ordering of 3PK and two cosmid markers in the 3p22–p21 tumour-suppressor region by two-colour fluorescencein situ hybridization

G. Klein, A. Lindblom, T. Lushnikova, 1996, Chromosome Research.

Deletion mapping in human renal cell carcinoma.

U. Bergerheim, M. Nordenskjöld, V. Collins, 1989, Cancer research.

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

A. Lindblom, M. Nordenskjöld, P. Tannergård, 1997, Human Genetics.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability

L. Hurst, L. Seabra, M. Nahorski, 2011, Human mutation.

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma

C. Larsson, B. Skogseid, M. Nordenskjöld, 1988, Nature.

Deletions on chromosome 22 in sporadic meningioma

J. Dumanski, M. Peyrard, M. Nordenskjöld, 1994, Genes, Chromosomes and Cancer.

Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.

P. Dejong, I. Dunham, J. Dumanski, 1993, Human molecular genetics.

Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G‐banding

Elisabeth Blennow, Jacqueline Schoumans, A. Nordgren, 2002, European journal of haematology.

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.

H. Ljunggren, B. Fadeel, T. Salmi, 2011, Blood.

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

H. Ljunggren, B. Fadeel, M. Nordenskjöld, 2010, Pediatric blood & cancer.

FISH-mapping of a 100-kb terminal 22q13 deletion

E. Blennow, J. Dumanski, G. Annéren, 2002, Human Genetics.

A map of 22 loci on human chromosome 22.

P. O'Connell, R. Wolff, J. Dumanski, 1991, Genomics.

Complete characterization of a large marker chromosome by reverse and forward chromosome painting

B. Ponder, C. Larsson, E. Blennow, 1992, Human Genetics.

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH.

C. Larsson, A. Nordgren, E. Blennow, 2000, The hematology journal : the official journal of the European Haematology Association.

Duplication of 2q41-qter as a sole aberration in a case of non-Hodgkin's lymphoma

M. Nordenskjöld, N. T. Pedersen, A. Sørensen, 1996 .

Prenatal diagnosis: molecular genetics and cytogenetics.

E. Blennow, M. Nordenskjöld, T. Bui, 2002, Best practice & research. Clinical obstetrics & gynaecology.

Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Daniel Nilsson, Anna Lindstrand, Francesco Vezzi, 2017, Human mutation.

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

M. Nordenskjöld, E. Sahlin, E. Iwarsson, 2014, Fetal Diagnosis and Therapy.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

D. Nilsson, M. Nordenskjöld, E. Sahlin, 2019, PloS one.

Candidate genes for multiple endocrine neoplasia type 1

C. Larsson, N. Hayward, S. Grimmond, 1995, Journal of internal medicine.

Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene.

A. Craft, J. Wiggs, B. Werelius, 1988, The New England journal of medicine.

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

B. Teh, E. Blennow, J. Schoumans, 2004, Journal of Medical Genetics.

Genomic alterations in human breast carcinomas

C. Larsson, L. Skoog, M. Nordenskjöld, 1990, Genes, chromosomes & cancer.

Multiple endocrine neoplasia type 1.

C. Larsson, M. Nordenskjöld, B. Tean Teh, 2000, Seminars in cancer biology.

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size

E. Blennow, J. Schoumans, M. Nordenskjöld, 2004, European Journal of Human Genetics.

Gossypol induces DNA strand breaks in human fibroblasts and sister chromatid exchanges in human lymphocytes in vitro.

M. Nordenskjöld, B. Lambert, 1984, Journal of medical genetics.

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

A. Lindblom, B. Werelius, M. Nordenskjöld, 1993, Nature Genetics.

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s.

C. Larsson, M. Nordenskjöld, B. Hamberger, 1994, Human molecular genetics.

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

B. Johansson, A. Nordgren, M. Heyman, 2016, Leukemia & lymphoma.

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

B. Skogseid, M. Nordenskjöld, E. Tham, 2007, The Journal of clinical endocrinology and metabolism.

Chromatin Interactions in Differentiating Keratinocytes Reveal Novel Atopic Dermatitis and Psoriasis-Associated Genes.

P. Sahlén, J. Eisfeldt, I. Tapia-Páez, 2020, The Journal of allergy and clinical immunology.

Cell‐free tumour DNA testing for early detection of cancer – a potential future tool

R. Rosenquist, M. Nordenskjöld, B. Tesi, 2019, Journal of internal medicine.

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

E. Blennow, J. Schoumans, M. Nordenskjöld, 2003, European Journal of Human Genetics.

Novel filaggrin mutation but no other loss‐of‐function variants found in Ethiopian patients with atopic dermatitis

M. Nordenskjöld, M. Winge, M. Bradley, 2011, The British journal of dermatology.

Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations.

E. Blennow, M. Nordenskjöld, O. Hovatta, 2002, Molecular human reproduction.

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

E. Blennow, G. Annéren, J. Schoumans, 2002, American journal of medical genetics.

Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors.

M. Bots, R. B. van der Luijt, M. Nordenskjöld, 2012, European journal of endocrinology.

Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis

B. Fadeel, M. Nordenskjöld, D. Ma, 2008, Pediatric blood & cancer.

Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis.

C. Borrebaeck, S. Ek, M. Nordenskjöld, 2004, Haematologica.

Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype

A. Nordgren, E. Blennow, J. Schoumans, 2001, British journal of haematology.

Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22

E. Blennow, J. Dumanski, M. Nordenskjöld, 1994, Human Genetics.

Birt-Hogg-Dubé syndrome: diagnosis and management.

S. Richard, M. Nordenskjöld, E. Maher, 2009, The Lancet. Oncology.

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Ximing J. Yang, Karl J. Dykema, S. Richard, 2010, BMC Medical Genomics.

Inactivation of BHD in sporadic renal tumors.

S. Richard, B. Teh, S. Khoo, 2003, Cancer research.

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

C. Gillberg, A. Nordgren, E. Fernell, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

High‐resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting

J. Schoumans, M. Nordenskjöld, B. Anderlid, 2011, Clinical genetics.

Inactivation of BHD in Sporadic Renal Tumors 1

S. Richard, B. Teh, S. Khoo, 2003 .

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb

Å. Borg, G. Jönsson, J. Staaf, 2005 .

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

B. Fadeel, M. Nordenskjöld, A. Gürgey, 2005, Journal of Medical Genetics.

Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population.

I. Kockum, C. Söderhäll, H. Luthman, 2002, Human molecular genetics.

Detailed physical map of human chromosomal region 11q12-13 shows high meiotic recombination rate around the MEN1 locus.

C. Larsson, Y. Nakamura, B. Werelius, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

P. Svenningsson, I. Savitcheva, M. Nordenskjöld, 2018, The Cerebellum.

Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells

D. Nilsson, B. Fadeel, M. Nordenskjöld, 2020, British journal of haematology.

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.

C. Larsson, C. J. Pearce, B. Teh, 1998, American journal of human genetics.

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

J. Palmblad, B. Fadeel, M. Nordenskjöld, 2012, British journal of haematology.

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.

Kostmann syndrome or infantile genetic agranulocytosis, part one: Celebrating 50 years of clinical and basic research on severe congenital neutropenia

J. Palmblad, B. Fadeel, M. Nordenskjöld, 2006, Acta paediatrica.

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

J. Schoumans, M. Nordenskjöld, B. Anderlid, 2009, European journal of medical genetics.

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

A. Nordgren, D. Nilsson, M. Nordenskjöld, 2018, Clinical genetics.

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.

W. Al-Herz, H. Ljunggren, M. Nordenskjöld, 2013, Blood.

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.

The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis.

I. Kockum, C. Söderhäll, H. Luthman, 2001, Acta dermato-venereologica.

A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation

S. Ehl, Miriam Heizmann, M. Nordenskjöld, 2018, The Journal of allergy and clinical immunology.

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

J. Dumanski, I. Fransson, I. Tapia-Páez, 2001, Human Genetics.

Preimplantation genetic diagnosis of DiGeorge syndrome.

E. Blennow, M. Nordenskjöld, E. Iwarsson, 1998, Molecular human reproduction.

An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation

R. Zubarev, A. Tonevitsky, D. Maltseva, 2021, Nature Communications.

Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3).

C. Larsson, N. Hayward, S. Grimmond, 1995, Genomics.

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

L. Hammarström, M. Nordenskjöld, J. Henter, 2014, The Journal of allergy and clinical immunology.

Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers

J. Dumanski, G. Rouleau, G. Lenoir, 1993, Neurology.

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC‐clone‐based array

J. Komorowski, A. Piotrowski, C. Bruder, 2008, Human mutation.

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

L. Bolund, D. Vetrie, I. Ernberg, 2005, Human mutation.

Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10

C. James, C. Larsson, W. Cavenee, 1993, Human Genetics.

Linkage and association to candidate regions in Swedish atopic dermatitis families

I. Kockum, C. Söderhäll, H. Luthman, 2001, Human Genetics.

Assignment of the human FAU gene to a subregion of chromosome 11q13.

C. Larsson, W. V. D. Van de Ven, E. Schoenmakers, 1993, Genomics.

Multiple endocrine neoplasia.

C. Larsson, M. Nordenskjöld, 1990, Cancer surveys.

Exclusion of FAU as the multiple endocrine neoplasia type 1 (MEN1) gene.

C. Larsson, E. Friedman, K. Sandelin, 1993, Human molecular genetics.

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

A. Nordgren, J. Eisfeldt, D. Nilsson, 2021, Genome Medicine.

Characterization of drug-resistant cell lines by comparative genomic hybridization.

M. Nordenskjöld, K. Carlson, R. Larsson, 1999, Cancer genetics and cytogenetics.

Family screening in multiple endocrine neoplasia type 1 (MEN 1).

C. Larsson, M. Nordenskjöld, 1994, Annals of medicine.

Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors.

E. Friedman, M. Nordenskjöld, N. Stern, 1993, The Journal of clinical endocrinology and metabolism.

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

C. Larsson, B. Teh, D. Nicol, 1998, Genes, chromosomes & cancer.

Exclusion of the phosphoinositide-specific phospholipase Cβ3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1

C. Larsson, N. Hayward, S. Grimmond, 1996, Human Genetics.

Allele losses in malignant melanoma reflect random events.

B. Werelius, U. Ringborg, M. Nordenskjöld, 1990, Anticancer research.

Morphology, DNA ploidy and allele losses on chromosome 11 in sporadic hyperparathyroidism and that associated with multiple neoplasia, type 1.

C. Larsson, K. Sandelin, M. Nordenskjöld, 1992, The European journal of surgery = Acta chirurgica.

Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas

F. Piehl, M. Nordenskjöld, J. Lagercrantz, 1997, Leukemia.

Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus

H. Luthman, M. Nordenskjöld, F. Hedborg, 1993, Human Genetics.

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

B. Teh, S. Khoo, M. Nordenskjöld, 2001, Oncogene.

Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.

A. Lindblom, R. Kolodner, M. Nordenskjöld, 1995, Cancer research.

The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language

M. Nöthen, J. Kere, E. Castrén, 2012, Behavior genetics.

Expression of the neuronal form of pp60c-src in neuroblastoma in relation to clinical stage and prognosis.

M. Nordenskjöld, F. Hedborg, S. Påhlman, 1990, Cancer research.

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

A. Syvänen, A. Nordgren, L. Saft, 2020, Leukemia & lymphoma.

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer

M. Nordenskjöld, M. Lindblad, E. Tham, 2023, Cancers.

Finnish mutations in Swedish HNPCC families

A. Lindblom, M. Nordenskjöld, P. Tannergård, 1995, Nature Medicine.

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

Å. Borg, G. Jönsson, J. Staaf, 2005, European journal of medical genetics.

Induction of DNA damage by menadione (2-methyl-1,4-naphthoquinone) in primary cultures of rat hepatocytes.

S. Orrenius, M. Nordenskjöld, B. Jernström, 1984, Biochemical pharmacology.

Identification of twelve new RFLP-markers on chromosome 22q11-qter

C. Larsson, P. Scambler, J. Dumanski, 1991, Human Genetics.

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families.

E. Blennow, I. Vořechovský, L. Hammarström, 1999, Journal of immunology.

Predisposition for breast cancer in carriers of constitutional translocation 11q;22q.

C. Larsson, A. Lindblom, J. Dumanski, 1994, American journal of human genetics.

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

M. Nordenskjöld, E. Sahlin, E. Iwarsson, 2016, PloS one.

1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization

C. Bruder, J. Dumanski, M. Nordenskjöld, 1997, Genes, chromosomes & cancer.

Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements.

E. Blennow, A. Porwit, M. Björkholm, 2001, Haematologica.

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.

Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance

B. Niggemann, T. Keil, S. Lau, 2015, PLoS genetics.

A normal male with an inherited deletion of one exon within the DMD gene

L. Edström, M. Anvret, M. Nordenskjöld, 2004, Human Genetics.

Characterization of Stem-Like Cells in Mucoepidermoid Tracheal Paediatric Tumor

G. Lemon, T. Luedde, P. Macchiarini, 2014, PloS one.

Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4‐1BB‐L implicated in cell survival

S. Ek, M. Nordenskjöld, C. Borrebaeck, 2006, International journal of cancer.

Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

E. Friedman, M. Nordenskjöld, A. Jammal, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Å. Borg, J. Staaf, G. Annéren, 2007, European Journal of Medical Genetics.

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)

J. Schoumans, M. Nordenskjöld, B. Anderlid, 2005, American Journal of Medical Genetics. Part A.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

L. Kaczmarek, T. Golde, K. Wirdefeldt, 2017, PloS one.

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

A. Nordgren, D. Nilsson, M. Nordenskjöld, 2016, Clinical genetics.

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

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

Smoking and sister chromatid exchange.

J. Lindsten, M. Nordenskjöld, B. Jernström, 1982, Progress in clinical and biological research.

E. Blennow, G. Gaidano, L. Andersson, 2002, AIDS research and human retroviruses.

Analysis of association and linkage for the interleukin‐4 and interleukin‐4 receptor balpha; regions in Swedish atopic dermatitis families

I. Kockum, C. Söderhäll, H. Luthman, 2002, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients

J. Eisfeldt, D. Nilsson, Kenny Billiau, 2021, PloS one.

Distinct deleted regions on chromosome segment 16q23–24 associated with metastases in prostate cancer

C. Larsson, G. Berx, F. van Roy, 1999, Genes, chromosomes & cancer.

Prostaglandin synthetase-catalyzed activation of phenacetin metabolites to genotoxic products.

M. Nordenskjöld, P. Moldéus, A. Rahimtula, 1982, Molecular pharmacology.

A constitutional mutation within the retinoblastoma gene detected by PFGE

M. Nordenskjöld, M. Janson, 1994, Clinical genetics.

Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma

T. de Ståhl, J. Sandgren, R. Rosenquist, 2023, Cancers.

Subtelomeric rearrangements detected by FISH in patients with idiopatic mental retardation

E. Blennow, G. Annéren, M. Nordenskjöld, 1999 .

Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice

M. Herbert, M. Nordenskjöld, C. Höög, 2007, Nature Genetics.

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

B. Johansson, A. Nordgren, E. Blennow, 2011, Leukemia.

Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter

J. Dumanski, M. Nordenskjöld, A. G. Kessel, 1990, Human Genetics.

Haploinsufficiency of UNC13D increases the risk of lymphoma

I. Bergdahl, M. Nordenskjöld, C. Ahlm, 2019, Cancer.

Characterization of the murine VEGF-related factor gene.

N. Hayward, S. Grimmond, M. Nordenskjöld, 1996, Biochemical and biophysical research communications.

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

B. Berne, M. Nordenskjöld, M. Winge, 2011, Journal of dermatological science.

Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)‐positive B‐cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation

B. Johansson, A. Nordgren, M. Heyman, 2012, British journal of haematology.

Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris

B. Berne, M. Nordenskjöld, M. Winge, 2011, PloS one.

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

N. Rahman, P. Futreal, G. Bignell, 2003, American journal of human genetics.

Studies of DNA-strand breaks induced in human fibroblasts by chemical mutagens/carcinogens

M. Nordenskjöld, P. Moldéus, S. Söderhäll, 1979 .

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders

P. Svenningsson, M. Nordenskjöld, V. Niemelä, 2023, Journal of the Neurological Sciences.

Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping

C. Larsson, B. Johansson, A. Nordgren, 2001, European journal of haematology.

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)

C. Gillberg, A. Lindblom, M. Nordenskjöld, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Characterization of EGFR and ErbB2 expression in atopic dermatitis patients

M. Nordenskjöld, B. Homey, A. Pivarcsi, 2012, Archives of Dermatological Research.

Constitutional deletions predisposing to retinoblastoma

M. Nordenskjöld, E. Kock, M. Janson, 1990, Human Genetics.

Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high‐dose G‐CSF therapy

B. Fadeel, M. Nordenskjöld, Kristina Lagerstedt-Robinson, 2009, British journal of haematology.

Sequence and Expression of the Mouse Homologue to Human Phospholipase C β3 Neighboring Gene

J. Dumanski, F. Piehl, D. Kedra, 1996 .

Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13.

C. Larsson, M. Nordenskjöld, J. Lagercrantz, 1996, Genomics.

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

A. Nordgren, F. Vezzi, D. Nilsson, 2018, PloS one.