List of works by Niels Tommerup

4q35 deletion and 10p15 duplication associated with immunodeficiency

scientific article published on 01 October 2006

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

scientific article published on 22 February 2011

9q subtelomeric deletion syndrome with diaphragmatic hernia

scientific article published on 01 May 2009

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

scientific article published on 9 January 2008

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

article

A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1

article

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

scientific article

A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

scientific article published on 02 November 2011

A cryptic unbalanced translocation resulting in del 13q and dup 15q

scientific article published on 01 October 2008

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome ⬇️

scientific article published on November 1, 1983

A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation

scientific article

A holder for critical point drying of large numbers of EM-grids

scientific article published on 01 December 1992

A human phenome-interactome network of protein complexes implicated in genetic disorders

scientific article (publication date: March 2007)

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

scientific article published on August 2017

A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

scientific article published on 01 June 2008

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

scientific article published on 10 December 2015

A novel subtype of distal symphalangism affecting only the 4th finger

scientific article

Abdominal Wall Defects in Greenland 1989-2015

scientific article published on 2 May 2017

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance

scientific article published on 19 November 2014

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

scientific article

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

scientific article published in October 2006

An association study between the norepinephrine transporter gene and depression.

scientific article published in October 2013

An excess of chromosome 1 breakpoints in male infertility

article

Ancient human genome sequence of an extinct Palaeo-Eskimo

scientific article

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

scientific article

Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A

scientific article

Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23.

scientific article

Assignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamer-binding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridization

scientific article

Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation

scientific article (publication date: 2000)

Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

scientific article published in July 2007

Autoimmune diseases in women with Turner's Syndrome

article

Automation of a single-DNA molecule stretching device.

scientific article published in June 2015

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

scientific article

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.

scientific article published on 20 February 2008

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

scientific article published on 21 March 2011

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

scientific article

Breakpoints around the HOXD cluster result in various limb malformations.

scientific article published on 24 June 2005

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

scientific article

Chemotaxis in Tetrahymena

scientific article published on 01 March 1990

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

scientific article

Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions

scientific article

Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5.

scientific article

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

scientific article

Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

scientific article published on 01 February 2010

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

scientific article published on 10 September 2007

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

scientific article published on 01 December 2010

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

scientific article (publication date: September 1994)

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

scientific article published on 01 March 2006

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

scientific article published on 01 January 2005

Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end sequenced probes

scientific article published on 01 October 2002

Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification

scientific article published in January 2007

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

scientific article published in December 1991

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

scientific article

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

scientific article

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

scientific article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

scientific article

Dissecting spatio-temporal protein networks driving human heart development and related disorders

scientific article

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

scientific article

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy ⬇️

scientific article published on September 1, 2010

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

scientific article published on 16 April 2013

Dysregulation of FOXG1 by ring chromosome 14.

scientific article published on 9 April 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

scientific article

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

scientific article published on 01 June 2005

Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA

scientific article published on 07 September 2006

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

scientific article

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

scientific article published on 7 January 2013

Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development

scientific article published on February 2009

FISHing with locked nucleic acids (LNA): evaluation of different LNA/DNA mixmers

scientific article

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

scientific article published on 11 October 2007

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

scientific article published on May 2008

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

scientific article published on 20 August 2016

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

scientific article

Genetic association studies in lumbar disc degeneration: a systematic review

scientific article

Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers

scientific article published on 01 March 2007

Genetic heterogeneity in Pakistani microcephaly families.

scientific article published on 7 August 2012

Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.

scientific article

Genetic studies in congenital anterior midline cervical cleft

scientific article published on 11 July 2012

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

scientific article published on 11 September 2017

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

scientific article

Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

scientific article

Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis.

scientific article published on 26 February 2009

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

scientific article

Global gene expression analysis in fetal mouse ovaries with and without meiosis and comparison of selected genes with meiosis in the testis.

scientific article published on 25 November 2006

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

scientific article

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

scientific article

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

scientific article

Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.

scientific article published on 17 April 2006

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

scientific article published on 23 September 2011

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

scientific article published on 19 August 2008

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

article

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

scientific article

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

scientific article

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

scientific article published on April 2013

Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation

scientific journal article

Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

scientific article published in January 2004

Identification of the BRD1 interaction network and its impact on mental disorder risk

scientific journal article

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

scientific article published in April 1988

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

scientific article published on 01 January 2004

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

scientific article published on 01 January 2011

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

scientific article published on 16 October 2007

Investigation of 4q-deletion in two unrelated patients using array CGH.

scientific article published in September 2008

Isolated and syndromic forms of congenital anosmia

scientific article published on 12 October 2011

Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders

scientific article

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

scientific article

Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1.

scientific article

JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells

scientific article

Jarid1b targets genes regulating development and is involved in neural differentiation

scientific article published on November 2011

LNA-modified oligonucleotides are highly efficient as FISH probes.

scientific article published in January 2004

Localization of the human gene for advanced glycosylation end product-specific receptor (AGER) to chromosome 6p21.3.

scientific article published in December 1994

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Macroorchidism, mental retardation, and the fragile X.

scientific article published in November 1981

Male-to-male transmission in Laurin-Sandrow syndrome and exclusion ofRARBandRARG

article

Mapping of the human PAWR (par-4) gene to chromosome 12q21.

scientific article

Marker X chromosome induction in fibroblasts by FUdR

scientific article published on 01 January 1981

Metaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization

scientific article published on 2 November 2010

MicroRNA expression in the adult mouse central nervous system

scientific article

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

article published in 2005

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

scientific article published on 01 August 2009

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.

scientific article published in January 2000

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

scientific article published in November 2004

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

scientific article published on 01 January 1999

Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis.

scientific article published on 16 June 2016

Mowat-Wilson syndrome: an underdiagnosed syndrome?

scientific article published on 28 April 2008

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients

scientific article published on 01 July 2004

Mutational analysis of the human FATE gene in 144 infertile men.

scientific article

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

scientific article

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

scientific article published on 12 December 2012

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

scientific article

Neural correlates of taste perception in congenital olfactory impairment

scientific article published on 29 July 2014

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

scientific article published on 25 July 2014

Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma

scientific article published on 3 April 2013

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

scientific article published on 24 August 2011

Non-disjunction of chromosome 13.

scientific article

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

scientific article published on 01 March 1995

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

article

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

scientific article published in July 1994

Partial USH2A deletions contribute to Usher syndrome in Denmark

scientific article published on 25 March 2015

Partial USH2A deletions contribute to Usher syndrome in Denmark.

scientific article published on December 2015

Phenotypic subregions within the split-hand/foot malformation 1 locus

scientific article

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

scientific article

Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement

scientific article published on 01 March 2006

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

scientific article published in November 1992

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

scientific article

Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae

scientific article

Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1

scientific article (publication date: August 1999)

REST-mediated recruitment of polycomb repressor complexes in mammalian cells

scientific article

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

scientific article

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

scientific article

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

scientific article published on 12 November 2018

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

scientific article

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

scientific article published in January 2006

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

Sequence analysis of 17 NRXN1 deletions.

scientific article published on 25 September 2013

Sequence and expression analysis of gaps in human chromosome 20

scientific article (publication date: August 2012)

Sequence assembly.

scientific article published on 06 December 2008

Sequencing and mapping of the porcine CCS gene.

scientific article

Single-molecule denaturation mapping of DNA in nanofluidic channels

scientific article

Stones in the lacrimal gland: a rare condition

scientific article published on 11 August 2009

Structural genomic variation in childhood epilepsies with complex phenotypes

scientific article

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

scientific article

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.

scientific article

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

scientific article published on 01 April 2006

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

scientific article published on September 1992

The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders

scientific article

The first mutation in CNGA2 in two brothers with anosmia

scientific article

The genetic basis of the Pierre Robin Sequence

scientific article

The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3

scientific article

The identification and functional annotation of RNA structures conserved in vertebrates.

scientific article published on 9 May 2017

The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.

scientific article published on 25 February 2011

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

scientific article

The phenotypic spectrum of SCN8A encephalopathy

scientific article

The role of SLC2A1 in early onset and childhood absence epilepsies.

scientific article published on 8 January 2013

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

scientific article published on 5 November 2015

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

scientific article published on 30 December 2015

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes

scientific article published on 22 April 2015

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

scientific article published on 17 July 2013

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

scientific article published on 10 April 2008

Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family

scientific article published on 9 November 2015

Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus

scientific article

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

scientific article published on 11 December 2013

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