N. Tommerup

N. Tommerup, J. Fryns, M. Knudsen, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

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

Z. Tümer, N. Tommerup, L. Larsen, 2006, Genetic testing.

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

Z. Tümer, N. Tommerup, H. Ropers, 2011, Human mutation.

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

N. Tommerup, Tanveer Mustafa, M. Tariq, 2017, Psychiatry investigation.

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

Z. Tümer, N. Tommerup, H. Ropers, 2011, American journal of medical genetics. Part A.

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

N. Papadopoulos, A. Silahtaroglu, Z. Tümer, 2014, Human molecular genetics.

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

N. Tommerup, M. Bak, M. Hedegaard, 2013, Transfusion.

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

N. Tommerup, M. Anvret, S. Cassidy, 1992, American journal of medical genetics.

Gene probes to detect cross-culture contamination in hormone producing cell lines

Å. Lernmark, J. Schøller, N. Tommerup, 1988, In Vitro Cellular & Developmental Biology.

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

Z. Tümer, N. Tommerup, P. Guldberg, 2016, BMC Medical Genetics.

Human FATE is a novel X-linked gene expressed in fetal and adult testis

N. Tommerup, A. Byskov, C. Olesen, 2001, Molecular and Cellular Endocrinology.

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

A. Palotie, N. Tommerup, L. Paulin, 2017, Molecular genetics & genomic medicine.

Regional differences in expression of specific markers for human embryonic stem cells.

N. Tommerup, K. Møllgård, A. Andersen, 2007, Reproductive biomedicine online.

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

S. Kreiborg, Z. Tümer, N. Tommerup, 2005, American journal of medical genetics. Part A.

Structural genomic variation in childhood epilepsies with complex phenotypes

M. Poot, U. Stephani, N. Tommerup, 2013, European Journal of Human Genetics.

Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae

J. Gorodkin, Agnieszka Podolska, S. Cirera, 2012, BMC Genomics.

A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens.

N. Tommerup, L. Hansen, Qingfa Wu, 2006, Gene.

Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis

S. Gammeltoft, Z. Tümer, N. Tommerup, 2016, Neurology: Neuroimmunology & Neuroinflammation.

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

L. Bolund, N. Tommerup, S. Pedersen, 1993, Journal of medical genetics.

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

L. Bolund, N. Tommerup, P. Guldberg, 1993, Nature Genetics.

A neocentromere on human chromosome 3 without detectable α-satellite DNA forms morphologically normal kinetochores

N. Tommerup, L. Tranebjærg, A. Wandall, 1998, Chromosoma.

Constitutional ring chromosomes and tumour suppressor genes.

R. Lothe, N. Tommerup, 1992, Journal of medical genetics.

Localization in man of fifteen DNA sequences within the chromosome segment 13q12-q22.

F. Mitelman, N. Tommerup, L. Tranebjaerg, 2008, Hereditas.

An association study between the norepinephrine transporter gene and depression

A. Silahtaroglu, Z. Tümer, N. Tommerup, 2013, Psychiatric genetics.

De novo unbalanced translocations have a complex history/aetiology

N. Tommerup, C. Sismani, J. Nevado, 2018, Human Genetics.

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

J. Olsen, N. Tommerup, I. Bache, 2006, Genes, chromosomes & cancer.

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

A. Ingason, K. D. Jakobsen, T. Werge, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The Expanding SCN8A-Related Epilepsy Phenotype

G. Carvill, N. Tommerup, C. Depienne, 2015 .

Non-disjunction of chromosome 13.

C. Lundsteen, N. Tommerup, H. Eiberg, 2007, Human molecular genetics.

Chromothripsis and Human Genetic Disease

N. Tommerup, Lusine Nazaryan-Petersen, 2016 .

No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma

R. Hofstra, N. Tommerup, R. Versteeg, 1996, Human Genetics.

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

J. Opitz, N. Tommerup, H. Eiberg, 2004, American journal of medical genetics. Part A.

Familial X‐linked mental retardation and fragile X chromosomes in two Swedish families

N. Tommerup, G. Holmgren, I. Nordenson, 1981, Clinical genetics.

Molecular Identification of a Novel Candidate Sorting Receptor Purified from Human Brain by Receptor-associated Protein Affinity Chromatography*

N. Tommerup, S. Moestrup, P. Madsen, 1997, The Journal of Biological Chemistry.

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

S. Mundlos, N. Tommerup, K. Kjaer, 2009, American journal of medical genetics. Part A.

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

R. Hennekam, N. Tommerup, M. Warburg, 1999, Human molecular genetics.

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

S. Mundlos, N. Tommerup, T. Rosenberg, 2005, Journal of Medical Genetics.

Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2).

J. Hampe, Z. Tümer, N. Tommerup, 2002, Gene.

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

Reiner Siebert, Zeynep Tümer, Karen Brondum-Nielsen, 2006, American journal of human genetics.

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

N. Tommerup, Mette Boyd, H. Eiberg, 2010, European Journal of Human Genetics.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

B. Steinhoff, N. Tommerup, H. Lerche, 2016, Annals of neurology.

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

N. Tommerup, K. Orstavik, K. Eiklid, 1995, American journal of medical genetics.

Prolonged extreme thrombocytosis associated with neurofibromatosis type 1.

N. Tommerup, H. Hasle, M. Nir, 1997, The Journal of pediatrics.

Male‐to‐male transmission in Laurin–Sandrow syndrome and exclusion of RARB and RARG

J. Opitz, N. Tommerup, H. Eiberg, 2005, American journal of medical genetics. Part A.

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

G. Carvill, I. Scheffer, H. Mefford, 2016, European Journal of Human Genetics.

Assignment1 of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33→q23

Z. Tümer, N. Tommerup, H. Vissing, 2000, Cytogenetic and Genome Research.

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

Malene B. Rasmussen, N. Tommerup, C. Lourenço, 2014, Journal of Medical Genetics.

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

P. Stankiewicz, J. Lupski, A. Silahtaroglu, 2004, American journal of medical genetics. Part A.

The 8p-syndrome.

N. Tommerup, G. Z. Ostergaard, 1989, Annales de genetique.

Paternal non‐disjunction in a 46, XY/ 47, XXY individual with a fragile 17p12 in the mother

N. Tommerup, K. Gustavson, T. Tønnesen, 1986, Clinical genetics.

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

Z. Tümer, N. Tommerup, R. Møller, 2008, Epilepsia.

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

A. Silahtaroglu, N. Tommerup, R. Møller, 2011, Epilepsia.

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

A. Rosenthal, N. Tommerup, H. Ropers, 2000, Cytogenetic and Genome Research.

Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

H. Mefford, C. Elger, A. Scabar, 2013 .

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.

H. Leffers, N. Tommerup, 1996, Genomics.

Dysregulation of FOXG1 by ring chromosome 14

N. Tommerup, R. Møller, H. Hjalgrim, 2015, Molecular Cytogenetics.

Mowat–Wilson syndrome: an underdiagnosed syndrome?

Z. Tümer, N. Tommerup, R. Møller, 2008, Clinical Genetics.

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

A. Silahtaroglu, Z. Tümer, N. Tommerup, 2002, BMC Genetics.

Autoimmune diseases in women with Turner's syndrome.

N. Tommerup, R. Biggar, K. T. Jørgensen, 2010, Arthritis and rheumatism.

Challenges for the Sustainability of University-Run Biobanks.

N. Tommerup, L. Larsen, Jens Schovsbo, 2018, Biopreservation and Biobanking.

Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3.

N. Tommerup, S. M. Knudsen, H. Vissing, 1996, Genomics.

Molecular genetic changes in human male germ cell tumors.

R. Lothe, S. Fosså, J. Nesland, 1995, Laboratory investigation; a journal of technical methods and pathology.

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

N. Tommerup, J. Mandel, V. Biancalana, 1991, The New England journal of medicine.

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

N. Tommerup, H. Eiberg, S. Rehman, 2011, neurogenetics.

Intrafamilial variation of the phenotype in Bardet–Biedl syndrome

N. Tommerup, T. Rosenberg, A. Wright, 1997, The British journal of ophthalmology.

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

P. Vyas, N. Tommerup, M. Andersen, 2020, Blood Cancer Journal.

Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

N. Tommerup, E. Blennow, D. Avramopoulos, 1996, European journal of human genetics : EJHG.

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

Z. Tümer, N. Tommerup, K. Brøndum‐Nielsen, 2011, European Journal of Human Genetics.

The identification and functional annotation of RNA structures conserved in vertebrates

Jan Gorodkin, Christian Garde, Henrik Nielsen, 2017, Genome research.

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

A. Latos-Bieleńska, N. Tommerup, M. Wagner, 1991, American journal of human genetics.

Familial Occurrence of Neuroblastoma, Von Recklinghausen's Neurofibromatosis, Hirschsprung's Agangliosis and Jaw‐winking Syndrome

N. Tommerup, N. Clausen, P. Andersson, 1989, Acta paediatrica Scandinavica.

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Communications.

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

Z. Tümer, N. Tommerup, I. Craig, 1992, Human Genetics.

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

J. Opitz, L. Skovgaard, N. Tommerup, 2005, American journal of medical genetics. Part A.

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

J. Opitz, N. Tommerup, C. Hansen, 2002, American journal of medical genetics.

Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis.

N. Tommerup, J. Koch, L. B. Andersen, 1990, Cytogenetics and cell genetics.

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

Z. Tümer, N. Tommerup, E. Blennow, 2004, American journal of medical genetics. Part A.

Macroorchidism and fragile X in mentally retarded males

N. Tommerup, K. B. Nielsen, C. Schou, 1982, Human Genetics.

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

N. Tommerup, H. Ropers, V. Kalscheuer, 2005, Clinical genetics.

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

A. Silahtaroglu, N. Tommerup, H. Vissing, 2003, Molecular and cellular probes.

LNA-modified oligonucleotides are highly efficient as FISH probes

A. Silahtaroglu, S. Kauppinen, N. Tommerup, 2004, Cytogenetic and Genome Research.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

J. Tolmie, N. Tommerup, H. Karstensen, 2022, Scientific Reports.

Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B‐cell malignancies using end‐sequenced probes

H. Johnsen, A. Silahtaroglu, N. Tommerup, 2001, Genes, chromosomes & cancer.

Not para-, not peri-, but centric inversion of chromosome 12.

Z. Tümer, N. Tommerup, J. Wirth, 1998, Journal of medical genetics.

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

P. Striano, U. Stephani, M. Simpson, 2015, Epilepsia.

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

N. Tommerup, S. Baig, K. Kjaer, 2010, American journal of medical genetics. Part A.

Hydatidiform moles: methods for culture and cytogenetic analyses.

N. Tommerup, L. Vejerslev, A. Hallberg, 1986, Cancer genetics and cytogenetics.

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

J. Almeida, G. Oliveira, A. Sequeira, 2012, Front. Genet..

Cloning, characterization and chromosomal localization of the Sus scrofa SLC31A1 gene.

Z. Tümer, N. Tommerup, C. Bendixen, 2003, Animal genetics.

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

N. Tommerup, P. Nygaard, L. Tranebjaerg, 1987, Journal of medical genetics.

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Z. Tümer, N. Tommerup, H. Ropers, 2007, Clinical genetics.

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

N. Tommerup, K. Brøndum‐Nielsen, I. Bache, 2007, Genetics in Medicine.

Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities.

J. Olsen, N. Tommerup, H. Hasle, 1998, Cancer genetics and cytogenetics.

X-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers

N. Tommerup, M. Mikkelsen, K. B. Nielsen, 1981, Human Genetics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Regulatory variants of FOXG1 in the context of its topological domain organisation

N. Tommerup, Nadja Ehmke, A. Vianna-Morgante, 2018, European Journal of Human Genetics.

Regulatory Mutations of FOXG1 in the Context of Topological Domains

N. Tommerup, Nadja Ehmke, A. Novelli, 2016 .

Linkage studies of X-linked mental retardation: High frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome)

N. Tommerup, R. White, M. Mattei, 2004, Human Genetics.

Two Cases Diagnosed with Idiopathic Root Resorption and Low Serum Vitamin D Raise New Questions on Aetiology

N. Tommerup, M. Bak, J. Kvetny, 2021 .

Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability.

N. Tommerup, K. Brøndum‐Nielsen, J. Jacobsen, 1999, European journal of oral sciences.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

N. Tommerup, G. Rubboli, R. Møller, 2016, Molecular Syndromology.

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

Raoul C. M. Hennekam, Rachel H. Giles, Niels Tommerup, 1995, Nature.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

E. Mariman, H. Himmelbauer, R. Stallings, 1993, American journal of human genetics.

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

I. Dunham, N. Tommerup, J. Dumanski, 1999, The Journal of investigative dermatology.

The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.

N. Tommerup, M. Warburg, K. Weismann, 1990, Ophthalmic paediatrics and genetics.

EXPRESSION AND POST‐TRANSLATIONAL MODIFICATION OF HUMAN 4‐HYDROXY‐PHENYLPYRUVATE DIOXYGENASE

K. Kristiansen, H. Leffers, N. Tommerup, 2002, Cell biology international.

Occurrence of cancer in women with Turner syndrome.

J. Olsen, N. Tommerup, J. Hansen, 1996, British Journal of Cancer.

Identification of human candidate genes for male infertility by digital differential display.

N. Tommerup, E. van Assche, C. Hansen, 2001, Molecular human reproduction.

Identification of triploidy by DA/DAPI staining of trophoblastic interphase nuclei.

N. Tommerup, L. Vejerslev, 1985, Placenta.

Genetic instability of cell lines derived from a single human small cell carcinoma of the lung.

N. Brünner, N. Tommerup, H. Hansen, 1985, European journal of cancer & clinical oncology.

Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly

N. Tommerup, R. Wegner, D. Schindler, 1993, Human Genetics.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Validation of Genome-Wide Intervertebral Disk Calcification Associations in Dachshund and Further Investigation of the Chromosome 12 Susceptibility Locus

N. Tommerup, H. Kadarmideen, M. Fredholm, 2012, Front. Gene..

Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28

N. Tommerup, K. B. Nielsen, 1984, Human Genetics.

MicroRNA expression in the adult mouse central nervous system.

A. Silahtaroglu, S. Kauppinen, N. Tommerup, 2008, RNA.

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

N. Tommerup, T. Jensen, A. Byskov, 2007, Cell and Tissue Research.

Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma.

N. Tommerup, K. Helin, H. Eiberg, 1997, Proceedings of the National Academy of Sciences of the United States of America.

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

N. Tommerup, R. Møller, S. Baig, 2019, The International journal of neuroscience.

5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

N. Tommerup, K. Brøndum‐Nielsen, H. Poulsen, 1981, Journal of medical genetics.

Sequence assembly

Peter F. Stadler, Jan Gorodkin, Steve Hoffmann, 2009, Comput. Biol. Chem..

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

N. Tommerup, H. Eiberg, R. Ullmann, 2011, American Journal of Medical Genetics. Part A.

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

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American journal of human genetics.

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

N. Tommerup, M. Bak, C. Halgren, 2012, European Journal of Human Genetics.

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

H. Firth, N. Tommerup, M. Ferguson-Smith, 2005, European Journal of Human Genetics.

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

H. Mefford, H. Wichmann, U. Stephani, 2013, Epilepsia.

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

J. Lacaille, N. Tommerup, M. Tarnopolsky, 2013, Human mutation.

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

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2008, American journal of human genetics.

A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome.

N. Tommerup, R. Gemmill, H. Drabkin, 1991, Genomics.

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

N. Tommerup, M. Vekemans, T. Attié-Bitach, 2001, Genomics.

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

N. Tommerup, A. Vianna-Morgante, M. Bak, 2015, Molecular Cytogenetics.

Isolated and syndromic forms of congenital anosmia

N. Tommerup, H. Karstensen, HG Karstensen, 2012, Clinical Genetics.

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

A. Silahtaroglu, N. Tommerup, M. Schwartz, 2001, European Journal of Human Genetics.

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

D. Ledbetter, J. Sutcliffe, S. Christian, 1994, Nature Genetics.

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

Wei Chen, Z. Tümer, N. Tommerup, 2008, Journal of Medical Genetics.

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

N. Tommerup, H. Johnsen, A. Silahtaroglu, 2002, Leukemia.

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

Juri Rappsilber, Kristian Helin, Niels Tommerup, 2010, Nature.

Induction of the fragile X on BrdU-substituted chromosomes with direct visualization of sister chromatid exchanges on banded chromosomes

N. Tommerup, 1989, Human Genetics.

Carrier detection and X-inactivation studies in the fragile X syndrome

N. Tommerup, M. Mikkelsen, K. B. Nielsen, 1983, Human Genetics.

A folate sensitive heritable fragile site at 19p13

N. Tommerup, J. Nielsen, Margareta Mikkelsen1, 1985, Clinical genetics.

Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium

N. Tommerup, K. B. Nielsen, Lise Bjerglund Nielsen, 1983, Prenatal diagnosis.

Folic acid metabolism in patient with fragile X

N. Tommerup, K. B. Nielsen, E. Hippe, 1983, Clinical genetics.

Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae

J. Gorodkin, Agnieszka Podolska, S. Cirera, 2012, BMC Genomics.

Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia

A. Feinberg, R. Weksberg, N. Niikawa, 1994, European journal of human genetics : EJHG.

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

N. Tommerup, H. Vissing, H Vissing, 1995, Genomics.

Fine mapping of human 5S rRNA genes to chromosome 1q42.11----q42.13.

N. Tommerup, B. Lomholt, P. D. Sørensen, 1991, Cytogenetics and cell genetics.

Single-molecule denaturation mapping of DNA in nanofluidic channels

Henrik Flyvbjerg, Asli Silahtaroglu, Anders Kristensen, 2010, Proceedings of the National Academy of Sciences.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

D. Larizza, N. Tommerup, M. Delledonne, 2018, Human mutation.

PRENATAL DIAGNOSIS OF A HALF‐CRYPTIC TRANSLOCATION USING CHROMOSOME MICRODISSECTION

N. Tommerup, G. Senger, I. Chudoba, 1997, Prenatal diagnosis.

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

N. Tommerup, H. Ropers, T. Haaf, 2001, Journal of medical genetics.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

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

N. Tommerup, L. Pantano, T. Vavouri, 2015, RNA.

REST–Mediated Recruitment of Polycomb Repressor Complexes in Mammalian Cells

N. Tommerup, J. Rappsilber, K. Hansen, 2012, PLoS genetics.

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

Z. Tümer, N. Tommerup, P. Guldberg, 2016, BMC Medical Genetics.

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

N. Tommerup, C. Sismani, M. Bak, 2018, PloS one.

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

M. Nöthen, N. Tommerup, Y. Mang, 2013, American journal of human genetics.

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

N. Tommerup, R. Ullmann, B. Melegh, 2008, American journal of medical genetics. Part A.

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

N. Tommerup, K. Brøndum‐Nielsen, M. Petersen, 1996, Human Genetics.

Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing

H. Flyvbjerg, A. Silahtaroglu, N. Tommerup, 2017, Scientific Reports.

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

N. Tommerup, Z. Sedlacek, Z. Zemanová, 2018, Human mutation.

Chromothripsis and DNA Repair Disorders

Z. Tümer, N. Tommerup, F. Nielsen, 2020, Journal of clinical medicine.

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

O. Mäkitie, Z. Tümer, N. Tommerup, 2018, PLoS genetics.

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

Z. Tümer, N. Tommerup, M. Bak, 2016, Human mutation.

Sequence analysis of 17 NRXN1 deletions

D. Rujescu, A. Ingason, T. Hansen, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

N. Tommerup, T. Liehr, M. Bak, 2013, European Journal of Human Genetics.

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

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

N. Tommerup, C. Sismani, M. Bak, 2018, Molecular Cytogenetics.

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

Z. Tümer, N. Tommerup, Y. Mang, 2011, European journal of medical genetics.

Characterization of an intraocular retinoblastoma‐like tumour

N. Tommerup, O. A. Jensen, J. Winther, 1987, Acta ophthalmologica.

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

David E. Misek, R. Kuick, N. Tommerup, 2001, Human molecular genetics.

Genome-wide Analysis of CDX2 Binding in Intestinal Epithelial Cells (Caco-2)*

N. Tommerup, Mette Boyd, M. Bak, 2010, The Journal of Biological Chemistry.

Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance

J. Kjems, A. Silahtaroglu, S. Kauppinen, 2014, Epilepsia.

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

N. Tommerup, F. Nielsen, 1983, American journal of medical genetics.

DNA-aneuploidy in 46,XX hydatidiform moles.

N. Tommerup, I. Christensen, L. Vejerslev, 1987, Cancer genetics and cytogenetics.

Further delineation of the 22q13 deletion syndrome

C. Lundsteen, N. Tommerup, M. Kirchhoff, 2005, Clinical dysmorphology.

Ring chromosome 22 and neurofibromatosis

G. B. Petersen, N. Tommerup, M. Warburg, 1992, Clinical genetics.

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

Z. Tümer, N. Tommerup, H. Jarmer, 2008, DNA and cell biology.

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

Z. Tümer, N. Tommerup, H. Ropers, 2008, European journal of medical genetics.

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

D. Ledbetter, N. Tommerup, N. Skakkebæk, 1996, Nature Genetics.

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

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2010, American journal of medical genetics. Part A.

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

Eugene Berezikov, Niels Tommerup, Eugene Berezikov, 2007, Nature Protocols.

Genetic studies in congenital anterior midline cervical cleft

N. Tommerup, H. Eiberg, M. Bak, 2012, American journal of medical genetics. Part A.

Amplification of the human putative oncogene INT1 in primary retinoblastoma tumors.

F. Mitelman, N. Tommerup, N. Mandahl, 1988, Cytogenetics and cell genetics.

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

Juri Rappsilber, Or Gozani, Kristian Helin, 2010, Molecular cell.

Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins

N. Tommerup, H. Thiesen, L. Aagaard, 1995, FEBS letters.

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

L. Ashworth, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

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

N. Tommerup, A. Heiberg, C. B. van der Hagen, 1992, American journal of medical genetics.

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

N. Tommerup, L. Larsen, M. Bak, 2003, Pharmacogenomics.

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

Z. Tümer, N. Tommerup, L. Larsen, 2006, American journal of medical genetics. Part A.

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

N. Tommerup, H. Ropers, V. Kalscheuer, 2005, Human Genetics.

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.

K. Grzeschik, M. Gessler, N. Tommerup, 1991, Genomics.

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

N. Tommerup, C. Sismani, C. Koufaris, 2017, PloS one.

Molecular Characterization of a Novel Human Hybrid-type Receptor That Binds the α2-Macroglobulin Receptor-associated Protein*

N. Tommerup, S. Moestrup, P. Madsen, 1996, The Journal of Biological Chemistry.

Characterization of the T61 human breast carcinoma established in nude mice.

N. Brünner, N. Tommerup, G. Bastert, 1985, European journal of cancer & clinical oncology.

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

N. Papadopoulos, Z. Tümer, N. Tommerup, 2009, European Journal of Human Genetics.

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

Reinhard Ullmann, Cheng Fang, Kirsten Harvey, 2009, Human mutation.

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

Z. Tümer, N. Tommerup, L. Larsen, 2007, Journal of Medical Genetics.

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

T. Werge, J. Schouten, N. Tommerup, 2012, American journal of medical genetics. Part A.

Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

N. Tommerup, V. Kalscheuer, M. Bak, 2019, Human mutation.

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.

H. Lehrach, N. Tommerup, S. Baxendale, 1993, Human molecular genetics.

4q35 deletion and 10p15 duplication associated with immunodeficiency

Z. Tümer, N. Tommerup, H. Ropers, 2006, American journal of medical genetics. Part A.

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

Z. Tümer, N. Tommerup, M. Kirchhoff, 2006, American journal of medical genetics. Part A.

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

L. Willatt, N. Tommerup, M. Ferguson-Smith, 2002, Journal of medical genetics.

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

N. Tommerup, T. Haaf, C. Menzel, 1999, Journal of medical genetics.

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

E. Mariman, A. Silahtaroglu, Z. Tümer, 1999, European Journal of Human Genetics.

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

N. Tommerup, H. Eiberg, P. Kramer, 2001, European Journal of Human Genetics.

A familial X;autosome translocation associated with Becker type muscular dystrophy?

N. Tommerup, 1991, Journal of medical genetics.

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

A. Ingason, T. Werge, N. Tommerup, 2015, European journal of medical genetics.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

9q subtelomeric deletion syndrome with diaphragmatic hernia

N. Tommerup, R. Møller, H. Hjalgrim, 2009, American journal of medical genetics. Part A.

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

M Jay, N. Tommerup, E. Bruford, 1997, Genomics.

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

N. Tommerup, H. Eiberg, L. Larsen, 2020, Nature Communications.

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

A. Hüttenhofer, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

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

Z. Tümer, N. Tommerup, L. Larsen, 2005, American journal of medical genetics. Part A.

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

K. Steel, S. Leal, N. Tommerup, 2015, PLoS genetics.

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

H. Ooi, N. Tommerup, O. Mors, 2016, Genome Medicine.

Relating genomic variation to drug response in childhood acute lymphoblastic leukemia by multiplexed targeted sequencing

Søren Brunak, Nils Weinhold, Niels Tommerup, 2010, Genome Biology.

Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.

N. Tommerup, P. Nygaard, K. B. Nielsen, 1986, Journal of medical genetics.

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

N. Tommerup, M. Bak, O. Skovgaard, 2011, Genome research.

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

N. Tommerup, Y. Mang, Mana M Mehrjouy, 2021, Genes.

Breakpoints around the HOXD cluster result in various limb malformations

S. Mundlos, A. Silahtaroglu, Z. Tümer, 2005, Journal of Medical Genetics.

Does rapid sequence divergence preclude RNA structure conservation in vertebrates?

W. L. Ruzzo, J. Gorodkin, C. Workman, 2022, Nucleic acids research.

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

N. Tommerup, J. Hedegaard, L. Conley, 2006, Analytical biochemistry.

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

Anthony P. Monaco, Zeynep Tümer, Jamel Chelly, 1993, Nature Genetics.

Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?

N. Tommerup, A. Reeve, I. Morison, 1998, Journal of medical genetics.

Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients

H. Ullum, S. Brunak, N. Tommerup, 2021, Scientific Reports.

RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption

N. Tommerup, H. Eiberg, L. Larsen, 2019, bioRxiv.

Human rab11a: transcription, chromosome mapping and effect on the expression levels of host GTP‐binding proteins

N. Tommerup, I. Gromova, J. Celis, 1998, FEBS letters.

Optical mapping of single-molecule human DNA in disposable, mass-produced all-polymer devices

Rafael J. Taboryski, Henrik Flyvbjerg, Peter Friis Østergaard, 2015 .

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

L. Gautier, T. Sicheritz-Pontén, S. Brunak, 2011, Leukemia.

Chemotaxis in tetrahymena.

N. Tommerup, V. Leick, P. Hellung-Larsen, 1990, European journal of protistology.

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

Malene B. Rasmussen, S. Kreiborg, E. Budtz-Jørgensen, 2016, Human Genetics.

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

Z. Tümer, N. Tommerup, L. Larsen, 2009, American journal of medical genetics. Part A.

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

Z. Tümer, N. Tommerup, H. Ropers, 2007, European Journal of Human Genetics.

Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1

N. Tommerup, Yang Shi, R. Johnstone, 1999, Immunogenetics.

Ciao 1 Is a Novel WD40 Protein That Interacts with the Tumor Suppressor Protein WT1*

N. Tommerup, T. Roberts, R. Johnstone, 1998, The Journal of Biological Chemistry.

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

N. Tommerup, L. Larsen, Y. Mang, 2015, Journal of Human Genetics.

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

S. Mundlos, N. Tommerup, H. Eiberg, 2005, Journal of Medical Genetics.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review.

N. Tommerup, S. Baig, Y. Sarwar, 2021, European journal of medical genetics.

Molecular Definition oftheShortest RegionofDeletion Overlap intheLanger-Giedion Syndrome

N. Tommerup, B. Zabel, C. Turleau, 1991 .

Partial deletion 11q: report of a case with a large terminal deletion 11q21‐qter without loss of telomeric sequences, and review of the literature

F. B. Sørensen, N. Tommerup, J. Hertz, 1995, Clinical genetics.

Marker chromosomes in parents to children with Down's syndrome

N. Tommerup, G. Annéren, J. Wahlström, 1984, Clinical genetics.

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

C. Lundsteen, T. Gerdes, Z. Tümer, 2000, European Journal of Human Genetics.

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

J. Hilden, C. Lundsteen, N. Tommerup, 2006, European Journal of Human Genetics.

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

Z. Tümer, N. Tommerup, R. Ullmann, 2007, Clinical genetics.

Abdominal Wall Defects in Greenland 1989-2015.

E. Budtz-Jørgensen, N. Tommerup, H. Eiberg, 2017, Birth defects research.

Haploinsufficiency of ARHGAP42 is associated with hypertension

Malene B. Rasmussen, N. Grarup, N. Tommerup, 2019, European Journal of Human Genetics.

Specfic staining of 9h in human somatic interphase cells by D 287/170

N. Tommerup, 2004, Human Genetics.

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

N. Tommerup, H. Eiberg, S. Baig, 2010, Molecular vision.

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

J. Gécz, C. Schwartz, N. Tommerup, 2005, Human Genetics.

Explorer A Functional Link between the Histone Demethylase PHF 8 and the Transcription Factor ZNF 711 in X-Linked Mental Retardation

N. Tommerup, K. Helin, J. Rappsilber, 2017 .

The first mutation in CNGA2 in two brothers with anosmia

T. Hummel, N. Tommerup, Y. Mang, 2015, Clinical genetics.

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

N. Tommerup, R. Johnstone, C. Hansen, 1998, Genomics.

SCREENING TEST FOR ATAXIA TELANGIECTASIA

M. Poot, P. Rabinovitch, N. Tommerup, 1987, The Lancet.

Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions

W. Baaré, H. Siebner, N. Tommerup, 2018, Brain Imaging and Behavior.

Haploinsufficiency of ARHGAP42 is associated with hypertension

Malene B. Rasmussen, T. Hansen, N. Grarup, 2019, European Journal of Human Genetics.

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

N. Tommerup, M. Warburg, L. Tranebjaerg, 1988, American journal of medical genetics.

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

N. Tommerup, K. Rostgaard, N. Nielsen, 2007, Arthritis and rheumatism.

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

Z. Tümer, N. Tommerup, H. Ropers, 2004, Journal of Medical Genetics.

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

N. Tommerup, T. Rosenberg, H. Eiberg, 2014, European Journal of Human Genetics.

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

K. Lage, N. Tommerup, L. Larsen, 2009, Experimental & Molecular Medicine.

Genome‐wide Gene Expression Profiling of SCID Mice with T‐cell‐mediated Colitis

K. Lage, Z. Tümer, N. Tommerup, 2009, Scandinavian journal of immunology.

Chromosomal studies in familial polyposis coli.

N. Tommerup, S. Bülow, K. B. Nielsen, 1985, Cancer genetics and cytogenetics.

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

Carsten Elbro, Reinhard Ullmann, Asli Silahtaroglu, 2010, Behavior genetics.

Macroorchidism, mental retardation, and the fragile X.

N. Tommerup, K. B. Nielsen, 1981, New England Journal of Medicine.

CHEMOATTRACTION IN TETRAHYMENA: ON THE ROLE OF CHEMOKINESIS

N. Tommerup, V. Leick, P. Hellung-Larsen, 1986 .

[Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome].

N. Tommerup, J. Lindholt, M. Mikkelsen, 1981, Ugeskrift for laeger.

Prader‐Willi–like phenotype and the proximal long arm of the X chromosome

Z. Tümer, N. Tommerup, K. Brøndum‐Nielsen, 1998 .

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

N. Tommerup, K. Winge, A. Nørremølle, 2011, Parkinsonism & related disorders.

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

N. Tommerup, H. Eiberg, R. Ullmann, 2007, American journal of medical genetics. Part A.

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

N. Tommerup, R. Møller, H. Hjalgrim, 2014, Annals of clinical and translational neurology.

The role of SLC2A1 in early onset and childhood absence epilepsies

U. Stephani, N. Tommerup, H. Muhle, 2011, Epilepsy Research.

Compound heterozygous ASPM mutations in Pakistani MCPH families

N. Tommerup, H. Eiberg, P. Nürnberg, 2009, American journal of medical genetics. Part A.

Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

N. Tommerup, H. Eiberg, Y. Mang, 2020, Movement Disorders.

Sequencing and mapping of the porcine CCS gene.

A. Silahtaroglu, Z. Tümer, N. Tommerup, 2004, Animal genetics.

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

N. Tommerup, L. Larsen, Y. Mang, 2017, European journal of medical genetics.

De novo unbalanced translocations have a complex history/aetiology

N. Tommerup, C. Sismani, J. Nevado, 2018, Human Genetics.

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

N. Tommerup, L. Aagaard, E. Boel, 1994, Genomics.

Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin‐Bell syndrome

K. Davies, N. Tommerup, U. Froster-Iskenius, 1991, Prenatal diagnosis.

The fragile X chromosome: prenatal diagnosis

N. Tommerup, 1986 .

Second trimester prenatal diagnosis of the fragile X.

F. Mitelman, N. Tommerup, B. Gustavii, 1986, American journal of medical genetics.

Genetic heterogeneity in Pakistani microcephaly families

N. Tommerup, H. Eiberg, P. Nürnberg, 2013, Clinical genetics.

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

N. Tommerup, H. Eiberg, H. Pakkenberg, 2004, Brain research. Molecular brain research.

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

H. Ooi, N. Tommerup, O. Mors, 2016, Genome Medicine.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome

P. Stankiewicz, S. Scherer, N. Tommerup, 2018, Clinical genetics.

Genetic Association Studies in Lumbar Disk Degeneration: A Systematic Review

N. Tommerup, J. Karppinen, S. Solovieva, 2012 .

High‐resolution chromosome analysis in autosomal recessive disorders: Laurence‐Moon‐Bardet‐Biedl syndrome

N. Tommerup, M. Fannemel, R. Riise, 1993, Clinical Genetics.

Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

M. B. Peterson, A. Chakravarti, S. Antonarakis, 1992, American journal of human genetics.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.

A. Silahtaroglu, N. Tommerup, C. Hansen, 1998, Blood.

PCR-based screening of YAC clones without DNA extraction

N. Tommerup, S. Moestrup, K. Henriksen, 1999 .

Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization

Maria Dimaki, Winnie E. Svendsen, Zeynep Tümer, 2010, Sensors.

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

N. Tommerup, K. Helin, J. Rappsilber, 2010, Molecular cell.

Chromosome abnormalities, cellular DNA content, oncogene amplification and growth pattern in agar culture of human neuroblastomas.

N. Tommerup, J. Larsen, O. Nielsen, 1991, Anticancer research.

A novel mutation in IRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

N. Tommerup, H. Eiberg, C. Asklund, 2008, American journal of medical genetics. Part A.

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

N. Tommerup, S. Baig, Y. Sarwar, 2017, Nephrology.

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

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American journal of human genetics.

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

M. Daly, J. Rosenfeld, L. Shaffer, 2012, Proceedings of the National Academy of Sciences.

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)

A. Silahtaroglu, G. Cantalupo, N. Tommerup, 2023, Neurological Sciences.

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

Z. Tümer, N. Tommerup, R. Møller, 2010, American journal of medical genetics. Part A.

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.

A. Monaco, Z. Tümer, N. Tommerup, 1992, Human molecular genetics.

Blood group substances, T6 antigen and heterochromatin pattern as species markers in the nude mouse/human skin model.

N. Tommerup, E. Dabelsteen, N. Graem, 1984, Experimental cell biology.

The identification and functional annotation of RNA structures conserved in vertebrates

W. L. Ruzzo, Zizhen Yao, J. Gorodkin, 2017, Genome research.

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

J. Gorodkin, R. Sabarinathan, N. Tommerup, 2019, Molecular vision.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

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

G. Oliveira, A. Vicente, R. Cotterill, 2008, European Journal of Human Genetics.

Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.

N. Tommerup, T. Haaf, H. Ropers, 1997, Cytogenetics and cell genetics.

Human Mutation

N. Tommerup, V. Kalscheuer, M. Bak, 2019 .

Automation of a single-DNA molecule stretching device.

A. Silahtaroglu, N. Tommerup, R. Marie, 2015, The Review of scientific instruments.