Niels Tommerup
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Biology
Niels Tommerup's Degrees
- Bachelors Biology University of Copenhagen
- Masters Genetics University of Copenhagen
- PhD Molecular Biology University of California, Berkeley
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(Suggest an Edit or Addition)Niels Tommerup's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 (1994) (1521)
- Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene (1999) (1177)
- Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP (1995) (1148)
- A human phenome-interactome network of protein complexes implicated in genetic disorders (2007) (955)
- Ancient human genome sequence of an extinct Palaeo-Eskimo (2010) (754)
- Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein (1993) (690)
- BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression (1998) (678)
- Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. (1991) (640)
- JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells (2010) (579)
- MicroRNA expression in the adult mouse central nervous system. (2008) (472)
- Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region (1994) (431)
- Molecular Identification of a Novel Candidate Sorting Receptor Purified from Human Brain by Receptor-associated Protein Affinity Chromatography* (1997) (405)
- Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (2003) (296)
- Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. (2007) (242)
- Molecular Characterization of a Novel Human Hybrid-type Receptor That Binds the α2-Macroglobulin Receptor-associated Protein* (1996) (238)
- Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification (2007) (220)
- The phenotypic spectrum of SCN8A encephalopathy (2015) (219)
- Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1 (1993) (191)
- A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation (2010) (191)
- Jarid1b targets genes regulating development and is involved in neural differentiation (2011) (187)
- Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency (2013) (177)
- Single-molecule denaturation mapping of DNA in nanofluidic channels (2010) (175)
- REST–Mediated Recruitment of Polycomb Repressor Complexes in Mammalian Cells (2012) (163)
- Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins (1995) (159)
- 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. (1998) (157)
- Autoimmune diseases in women with Turner's syndrome. (2010) (152)
- Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. (2008) (149)
- Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (2009) (142)
- Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation (2016) (140)
- Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma. (1997) (138)
- High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease (2008) (134)
- Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders. (1995) (132)
- A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (2009) (132)
- Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. (1997) (127)
- DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. (2001) (127)
- Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B (2012) (126)
- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation (2007) (124)
- Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes. (1995) (122)
- Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development (2012) (120)
- Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) (2005) (119)
- Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia (1994) (114)
- Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients (2021) (111)
- The Genetic Basis of the Pierre Robin Sequence (2006) (109)
- A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (1999) (108)
- Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. (1993) (106)
- Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3. (1996) (103)
- Occurrence of cancer in women with Turner syndrome. (1996) (102)
- Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly (2005) (101)
- Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions. (2008) (99)
- Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome (2005) (98)
- Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man (2000) (97)
- Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes (1999) (95)
- Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies (2016) (94)
- Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. (2013) (94)
- Haploinsufficiency of TAB2 causes congenital heart defects in humans. (2010) (92)
- Genetic Association Studies in Lumbar Disc Degeneration: A Systematic Review (2012) (92)
- Dissecting spatio-temporal protein networks driving human heart development and related disorders (2010) (92)
- 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. (1981) (92)
- Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 (2007) (91)
- Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair (2004) (89)
- Intrafamilial variation of the phenotype in Bardet–Biedl syndrome (1997) (83)
- Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro. (2006) (79)
- 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 (2001) (78)
- Genome-wide Analysis of CDX2 Binding in Intestinal Epithelial Cells (Caco-2)* (2010) (77)
- Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint (1996) (76)
- Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing. (2011) (75)
- A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. (2001) (73)
- Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. (1991) (72)
- Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability. (1999) (71)
- Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome (2007) (71)
- Ciao 1 Is a Novel WD40 Protein That Interacts with the Tumor Suppressor Protein WT1* (1998) (71)
- Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders (2012) (70)
- FISHing with locked nucleic acids (LNA): evaluation of different LNA/DNA mixmers. (2003) (70)
- A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. (1983) (69)
- Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (2005) (69)
- Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients (2004) (68)
- The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome (2015) (67)
- Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance (2014) (67)
- The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes (2015) (67)
- Familial Occurrence of Neuroblastoma, Von Recklinghausen's Neurofibromatosis, Hirschsprung's Agangliosis and Jaw‐winking Syndrome (1989) (64)
- Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features (2006) (60)
- The identification and functional annotation of RNA structures conserved in vertebrates (2017) (60)
- Mutations in GABRB3 (2017) (59)
- Next‐generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell‐free fetal DNA in maternal plasma (2013) (59)
- Isolated and syndromic forms of congenital anosmia (2012) (58)
- LNA-modified oligonucleotides are highly efficient as FISH probes (2004) (58)
- Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae (2012) (57)
- Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy (2013) (57)
- Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (2012) (57)
- An excess of chromosome 1 breakpoints in male infertility (2004) (57)
- Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1. (1999) (56)
- Mapping of the human PAWR (par-4) gene to chromosome 12q21. (1998) (55)
- Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. (2001) (54)
- Molecular genetic changes in human male germ cell tumors. (1995) (53)
- Genetic instability of cell lines derived from a single human small cell carcinoma of the lung. (1985) (53)
- Genetic heterogeneity in Pakistani microcephaly families (2013) (52)
- New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. (1987) (51)
- Breakpoints around the HOXD cluster result in various limb malformations (2005) (50)
- Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). (1992) (50)
- 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 (2010) (50)
- CHEMOATTRACTION IN TETRAHYMENA: ON THE ROLE OF CHEMOKINESIS (1986) (49)
- Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome. (1995) (49)
- 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 (2002) (48)
- Identification of human candidate genes for male infertility by digital differential display. (2001) (48)
- Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy (2014) (48)
- A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. (1993) (48)
- High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes (2000) (47)
- The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2 (2013) (47)
- Familial X‐linked mental retardation and fragile X chromosomes in two Swedish families (1981) (47)
- Germline Chromothripsis Driven by L1‐Mediated Retrotransposition and Alu/Alu Homologous Recombination (2016) (46)
- Further delineation of the 22q13 deletion syndrome (2005) (45)
- A neocentromere on human chromosome 3 without detectable α-satellite DNA forms morphologically normal kinetochores (1998) (43)
- Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders (2012) (43)
- Mutational analysis of the human FATE gene in 144 infertile men (2003) (42)
- Non-disjunction of chromosome 13. (2007) (42)
- Compound heterozygous ASPM mutations in Pakistani MCPH families (2009) (41)
- Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features (2010) (40)
- Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity. (1999) (38)
- Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation (1996) (38)
- Sequence assembly (2009) (37)
- 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 (2004) (36)
- Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes (2020) (36)
- Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree (2001) (35)
- Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease (2006) (34)
- Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization (2010) (34)
- Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome (2005) (34)
- The human hedgehog-interacting protein gene: Structure and chromosome mapping to 4q31.21→q31.3 (2001) (33)
- Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. (1988) (33)
- Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms (1996) (33)
- Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes. (1993) (32)
- A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2 (2005) (32)
- High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations (2011) (32)
- Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease. (1992) (31)
- Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity (2012) (31)
- X-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers (1981) (31)
- 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 (2005) (31)
- Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis. (1990) (31)
- The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract (2014) (31)
- A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family (2010) (30)
- Identification of the BRD1 interaction network and its impact on mental disorder risk (2016) (30)
- A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA) (2011) (30)
- Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing (2017) (30)
- Fine mapping of human 5S rRNA genes to chromosome 1q42.11----q42.13. (1991) (30)
- 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 (1992) (29)
- HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. (2002) (29)
- Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). (1993) (29)
- Screening of congenital heart disease patients using multiplex ligation‐dependent probe amplification: Early diagnosis of syndromic patients (2012) (29)
- Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy (2016) (29)
- Global gene expression analysis in fetal mouse ovaries with and without meiosis and comparison of selected genes with meiosis in the testis (2007) (29)
- Constitutional ring chromosomes and tumour suppressor genes. (1992) (29)
- 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. (1996) (28)
- Structural genomic variation in childhood epilepsies with complex phenotypes (2013) (28)
- Human FATE is a novel X-linked gene expressed in fetal and adult testis (2001) (28)
- 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 (2010) (27)
- Localization of the human gene for advanced glycosylation end product-specific receptor (AGER) to chromosome 6p21.3. (1994) (27)
- Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia (2011) (26)
- Ring chromosome 22 and neurofibromatosis (1992) (26)
- Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. (2006) (26)
- Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes (2014) (26)
- Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions (2018) (26)
- Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57 (2016) (26)
- Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. (2018) (25)
- Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization (2018) (25)
- Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. (2006) (25)
- Regional differences in expression of specific markers for human embryonic stem cells. (2007) (25)
- Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development (2009) (24)
- PRENATAL DIAGNOSIS OF A HALF‐CRYPTIC TRANSLOCATION USING CHROMOSOME MICRODISSECTION (1997) (24)
- Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. (2001) (24)
- A 72‐year‐old Danish puzzle resolved—comparative analysis of phenotypes in families with different‐sized HOXD13 polyalanine expansions (2005) (24)
- RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis (2020) (23)
- The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders. (2003) (23)
- Small supernumerary marker chromosomes: A legacy of trisomy rescue? (2018) (23)
- 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 (2009) (23)
- Assignment of the human genes encoding 14,3-3 Eta (YWHAH) to 22q12, 14-3-3 zeta (YWHAZ) to 2p25.1-p25.2, and 14-3-3 beta (YWHAB) to 20q13.1 by in situ hybridization. (1996) (23)
- Characterization of the T61 human breast carcinoma established in nude mice. (1985) (23)
- Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases (2006) (22)
- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome (2011) (22)
- The first mutation in CNGA2 in two brothers with anosmia (2015) (22)
- Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities. (1998) (22)
- 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) (2004) (21)
- Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. (2008) (21)
- Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome (1999) (20)
- A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p. (1991) (19)
- Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia (2014) (19)
- Mowat–Wilson syndrome: an underdiagnosed syndrome? (2008) (19)
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly (2018) (19)
- Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B‐cell malignancies using end‐sequenced probes (2001) (19)
- Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. (1992) (19)
- Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome (2001) (19)
- Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5 (2015) (19)
- A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment (2015) (18)
- Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons. (1986) (18)
- X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome (2014) (18)
- SCREENING TEST FOR ATAXIA TELANGIECTASIA (1987) (18)
- Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy (2011) (18)
- Validation of Genome-Wide Intervertebral Disk Calcification Associations in Dachshund and Further Investigation of the Chromosome 12 Susceptibility Locus (2012) (18)
- Regulatory variants of FOXG1 in the context of its topological domain organisation (2018) (18)
- Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth? (1998) (17)
- A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family (2015) (17)
- Second trimester prenatal diagnosis of the fragile X. (1986) (17)
- The 8p-syndrome. (1989) (17)
- De novo unbalanced translocations have a complex history/aetiology (2018) (17)
- 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). (2002) (17)
- A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1 (2010) (17)
- Investigation of 4q‐deletion in two unrelated patients using array CGH (2008) (17)
- Carrier detection and X-inactivation studies in the fragile X syndrome (1983) (17)
- Amplification of the human putative oncogene INT1 in primary retinoblastoma tumors. (1988) (17)
- Optical mapping of single-molecule human DNA in disposable, mass-produced all-polymer devices (2015) (17)
- Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome (2007) (17)
- Macroorchidism and fragile X in mentally retarded males (1982) (16)
- Chromothripsis and DNA Repair Disorders (2020) (16)
- A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. (1991) (16)
- Macroorchidism, mental retardation, and the fragile X. (1981) (15)
- Phenotypic subregions within the split-hand/foot malformation 1 locus (2016) (15)
- Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly (1993) (15)
- Chemotaxis in tetrahymena. (1990) (15)
- Marker chromosomes in parents to children with Down's syndrome (1984) (15)
- A folate sensitive heritable fragile site at 19p13 (1985) (15)
- Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases (2018) (15)
- No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma (1996) (14)
- The role of SLC2A1 in early onset and childhood absence epilepsies (2011) (14)
- Population‐based study of cancer among carriers of a constitutional structural chromosomal rearrangement (2006) (14)
- A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia (2008) (14)
- Abdominal Wall Defects in Greenland 1989-2015. (2017) (13)
- Partial deletion 11q: report of a case with a large terminal deletion 11q21‐qter without loss of telomeric sequences, and review of the literature (1995) (13)
- GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells. (2008) (13)
- Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) (2002) (13)
- Folic acid metabolism in patient with fragile X (1983) (12)
- Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement (2018) (12)
- Idoxuridine induction of micronuclei containing the long or short arms of human chromosome 9. (1984) (12)
- Human rab11a: transcription, chromosome mapping and effect on the expression levels of host GTP‐binding proteins (1998) (12)
- Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2 --> q32.32. (1996) (12)
- Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers (2007) (12)
- Genetic studies in congenital anterior midline cervical cleft (2012) (12)
- Sequence analysis of 17 NRXN1 deletions (2014) (12)
- 4q35 deletion and 10p15 duplication associated with immunodeficiency (2006) (11)
- Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population (2017) (11)
- Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris (2005) (11)
- Not para-, not peri-, but centric inversion of chromosome 12. (1998) (11)
- Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements. (2007) (11)
- Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. (2015) (11)
- Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe (2007) (11)
- Characterization of an intraocular retinoblastoma‐like tumour (1987) (10)
- Challenges for the Sustainability of University-Run Biobanks. (2018) (10)
- A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. (2017) (10)
- Hydatidiform moles: methods for culture and cytogenetic analyses. (1986) (10)
- Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A (2008) (10)
- Chromothripsis and Human Genetic Disease (2016) (10)
- A novel mutation in IRF6 resulting in VWS–PPS spectrum disorder with renal aplasia (2008) (10)
- Partial USH2A deletions contribute to Usher syndrome in Denmark (2015) (10)
- EXPRESSION AND POST‐TRANSLATIONAL MODIFICATION OF HUMAN 4‐HYDROXY‐PHENYLPYRUVATE DIOXYGENASE (2002) (10)
- A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3. (1997) (10)
- Clinical features and molecular genetic analysis of a boy with Prader‐Willi syndrome caused by an imprinting defect (1997) (9)
- A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens. (2006) (9)
- Blood group substances, T6 antigen and heterochromatin pattern as species markers in the nude mouse/human skin model. (1984) (8)
- Male‐to‐male transmission in Laurin–Sandrow syndrome and exclusion of RARB and RARG (2005) (8)
- Chromosomal studies in familial polyposis coli. (1985) (8)
- Haploinsufficiency of ARHGAP42 is associated with hypertension (2019) (8)
- The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome. (1990) (8)
- A novel subtype of distal symphalangism affecting only the 4th finger (2009) (7)
- Automation of a single-DNA molecule stretching device. (2015) (7)
- Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects (2011) (7)
- Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family (2007) (7)
- Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes (2017) (7)
- Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end sequenced probes (2002) (7)
- Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel (2011) (7)
- Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis (2016) (7)
- Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA. (2006) (7)
- Dysregulation of FOXG1 by ring chromosome 14 (2015) (7)
- 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip (2011) (6)
- High‐resolution chromosome analysis in autosomal recessive disorders: Laurence‐Moon‐Bardet‐Biedl syndrome (1993) (6)
- The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation (2015) (6)
- Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome (2019) (6)
- Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. (2011) (6)
- Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. (2004) (6)
- Genome‐wide Gene Expression Profiling of SCID Mice with T‐cell‐mediated Colitis (2009) (5)
- Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients. (2004) (5)
- Apparent homozygosity for the fragile site at Xq28 in a normal female (2004) (5)
- Chromosome abnormalities, cellular DNA content, oncogene amplification and growth pattern in agar culture of human neuroblastomas. (1991) (5)
- Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) (2004) (5)
- Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing (2017) (5)
- An association study between the norepinephrine transporter gene and depression (2013) (5)
- Identification of triploidy by DA/DAPI staining of trophoblastic interphase nuclei. (1985) (5)
- Sequence and expression analysis of gaps in human chromosome 20 (2012) (5)
- Partial USH2A deletions contribute to Usher syndrome in Denmark (2015) (5)
- 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 (2005) (5)
- Prolonged extreme thrombocytosis associated with neurofibromatosis type 1. (1997) (5)
- Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium (1983) (5)
- Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24 (2009) (5)
- Relating genomic variation to drug response in childhood acute lymphoblastic leukemia by multiplexed targeted sequencing (2010) (4)
- Identification of positional candidates for neurological disorders on chromsome 13q14-->q22. (1997) (4)
- Erratum to the report of the third international workshop on human Y chromosome mapping 1997 (1997) (4)
- The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. (2011) (4)
- Fragile X: carrier detection in pregnancy. (1986) (4)
- [Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome]. (1981) (4)
- 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 (2018) (4)
- Localization in man of fifteen DNA sequences within the chromosome segment 13q12-q22. (2008) (4)
- Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1. (1998) (4)
- A cryptic unbalanced translocation resulting in del 13q and dup 15q (2008) (3)
- A familial X;autosome translocation associated with Becker type muscular dystrophy? (1991) (3)
- A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome (2020) (3)
- Assignment1 of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation (2000) (3)
- Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations (2000) (3)
- 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. (1996) (3)
- Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28 (1984) (3)
- Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene (2020) (3)
- [The genetic basis of epilepsy. The Danish Epilepsy Society]. (2007) (2)
- Dysregulation of FOXG1 by ring chromosome 14 (2015) (2)
- A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review. (2021) (2)
- Erratum: Sequence analysis of 17 NRXN1 deletions (2014) (2)
- The fragile X chromosome: prenatal diagnosis (1986) (2)
- DNA-aneuploidy in 46,XX hydatidiform moles. (1987) (2)
- [Gastrointestinal manifestations in neurofibromatosis]. (1993) (2)
- Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1 (1999) (2)
- Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis (2017) (2)
- Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families (2021) (2)
- Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes (2022) (1)
- Explorer A Functional Link between the Histone Demethylase PHF 8 and the Transcription Factor ZNF 711 in X-Linked Mental Retardation (2017) (1)
- Erratum (2004) (1)
- Assignment1 of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33→q23 (2000) (1)
- Specfic staining of 9h in human somatic interphase cells by D 287/170 (2004) (1)
- [Identification of cancer genes. The need for diagnosis and counseling of families with cancer]. (1995) (1)
- Sequencing and mapping of the porcine CCS gene. (2004) (1)
- Induction of the fragile X on BrdU-substituted chromosomes with direct visualization of sister chromatid exchanges on banded chromosomes (1989) (1)
- Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae (2012) (1)
- 16. The evolutionary conserved developmental regulome define high risk regions for long range position effects (2018) (1)
- Prader‐Willi–like phenotype and the proximal long arm of the X chromosome (1998) (1)
- Does rapid sequence divergence preclude RNA structure conservation in vertebrates? (2022) (1)
- Gene probes to detect cross-culture contamination in hormone producing cell lines (1988) (1)
- Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517) (2013) (1)
- Paternal non‐disjunction in a 46, XY/ 47, XXY individual with a fragile 17p12 in the mother (1986) (1)
- A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family (2019) (1)
- Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders (2022) (1)
- Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients (2022) (1)
- Genetic Association Studies in Lumbar Disk Degeneration: A Systematic Review (2012) (1)
- Subject Index Vol. 53, 1990 (1990) (1)
- Precision-bored microcapillaries for microinjection of nano-litre quantities without precalibration. (1982) (1)
- International Breakpoint Mapping Consortium (IBMC). Systematic Mapping of Chromosomal Breakpoints in the Context of Phenotypes and Nuclear Genome Organization (2015) (1)
- Cloning, characterization and chromosomal localization of the Sus scrofa SLC31A1 gene. (2003) (1)
- Phenotypic subregions within the split-hand/foot malformation 1 locus (2016) (0)
- Samuel A. Latt, 1938–1988 (1988) (0)
- Haploinsufficiency of ARHGAP42 is associated with hypertension (2019) (0)
- Regulatory variants of FOXG1 in the context of its topological domain organisation (2017) (0)
- [Sequencing of the first human chromosome. The Danish Society of Medical Genetics]. (2000) (0)
- Contents Vol. 89, 2000 (2000) (0)
- induction ofthefragile site on Xq28associated withX linked mental retardation (1981) (0)
- General Olfactory Sensitivity Data‐base: A Unique Knowledgebase for the least Explored of our Major Senses (2013) (0)
- Assignment of Zfp100 to murine chromosome 4 band D3/E1 with radiation hybrid mapping (2002) (0)
- An aCGH screening study in 150 patients identifies a novel dosage-sensitive gene, TAB2, which is disrupted in multiple patients with cardiac defects (2009) (0)
- PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES). (2023) (0)
- Identification of the BRD1 interaction network and its impact on mental disorder risk (2016) (0)
- Xenografts as a Model for Investigation of Drug Resistance (1989) (0)
- Erratum: Tetrasomy 18p de novo: Parental origin and different mechanisms of formation (European Journal of Human Genetics (1996) 4 (160-167)) (1996) (0)
- Joubert syndrome: a patient with a de novo t(2;22)(q13;q11.1) (2003) (0)
- PCR-based screening of YAC clones without DNA extraction (1999) (0)
- Chromosomes: A synthesis : edited by R.P. Wagner, M.P. Maguire and R.L. Stallings, Wiley-Liss; New York, 1993. 523 pages. $89.95. ISBN 0-471-56124-X (1994) (0)
- Expression and posttranslational modification of human 4-hydroxyphenyl-pyruvate dioxygenase (2002) (0)
- Genome rearrangements in E. coli identified by HTP sequencing (2008) (0)
- The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation (2015) (0)
- 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 (Am J Med Genet 135A:339–341) (2006) (0)
- Optical mapping of enriched, megabase-sized DNA molecules in nanodevices (2018) (0)
- [Retinoblastoma: model for heredity and cancer]. (1989) (0)
- Systematic Mapping of Chromosomal Breakpoints in the Context of Phenotypes and Nuclear Genome Organization (2016) (0)
- [Research on prophase and prometaphase chromosomes]. (1985) (0)
- NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers (2017) (0)
- Two Cases Diagnosed with Idiopathic Root Resorption and Low Serum Vitamin D Raise New Questions on Aetiology (2021) (0)
- C-TAS: A lab-on-a-chip system for the analysis of chromosomal translocations (2007) (0)
- cDNA cloning and mapping of human filensin (1998) (0)
- Call for nomination of members of The International Standing Committee of Human Cytogenetic Nomenclature 2006–2011 (2006) (0)
- Photolithographic micro-dissection (2005) (0)
- 51. Remember breakpoint two. Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements (2021) (0)
- Subject Index Vol. 89, 2000 (2000) (0)
- 11. Structural variation discovery and interpretation in the era of cytogenomics (2022) (0)
- Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing (2017) (0)
- Contents Vol. 97, 2002 (2002) (0)
- The Expanding SCN8A-Related Epilepsy Phenotype (2015) (0)
- Regulatory Mutations of FOXG1 in the Context of Topological Domains (2016) (0)
- Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement (2018) (0)
- Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions (2018) (0)
- Chromosome Total Analysis System (2006) (0)
- 84 Cell proliferation in homozygous hydatidiform moles estimated by flow cytometry (1989) (0)
- Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non homologous repair or template switching (2017) (0)
- A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family (2019) (0)
- 9q subtelomeric deletion syndrome with diaphragmatic hernia (2009) (0)
- Molecular Definition oftheShortest RegionofDeletion Overlap intheLanger-Giedion Syndrome (1991) (0)
- The Phenotypic Spectrum Associated with Gabrb3 Mutations: From Febrile Seizures to Severe Epileptic Encephalopathies (2015) (0)
- De novo unbalanced translocations have a complex history/aetiology (2018) (0)
- Claes Lundsteen—in Memoriam (2004) (0)
- A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes (2008) (0)
- Subject Index Vol. 92, 2001 (2001) (0)
- Subject Index Vol. 62, 1993 (1993) (0)
- FISH on Polymer (2008) (0)
- Contents, Vol. 79, 1997 (1997) (0)
- Subject Index, Vol. 76, 1997 (1997) (0)
- Hydatidiform mole: a chromosomal search for a recessive mutation. (1986) (0)
- Subject Index Vol. 97, 2002 (2002) (0)
- Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects Using Fluorescence In-situ Hybridization ( FISH ) : A Bypass for Isolation of Candidate Disease Genes (2004) (0)
- RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption (2019) (0)
- Amplification of INT1 in retinoblastomas (1989) (0)
- X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome (2013) (0)
- Abstracts of the 37th American Cytogenetics Conference (2002) (0)
- Subject Index, Vol. 79, 1997 (1997) (0)
- Erratum to: Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation (1996) (0)
- The 36th American Cytogenetics Conference (2000) (0)
- Search for late onset diseases among carriers of balanced chromosomal rearrangements (2000) (0)
- Contents, Vol. 53, 1990 (1990) (0)
- Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5 (2015) (0)
- [Genetic variation and disease of human beings. The Danish Society of Medical Genetics]. (2001) (0)
- SMURF1 is involved in cardiac development and congenital heart defects (2010) (0)
- T(4;12) translocation an a patient with bipolar affective disorder (2005) (0)
- 12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum (2022) (0)
- Becker type muscular dystrophy? translocation associated with A familial X;autosome (2012) (0)
- Structural organization, tissue expression, and chromosomal localization of Ciao 1, a functional modulator of the Wilms' tumor suppressor, WT1. (1999) (0)
- Re-Examination of Danish Carriers of Balanced Chromosomal Inversions (2016) (0)
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