PubRank

Niels Tommerup

Author PubWeight™ 117.84‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 2007 9.90
2 Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature 2010 7.51
3 JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature 2010 4.35
4 MicroRNA expression in the adult mouse central nervous system. RNA 2008 3.12
5 Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nat Protoc 2007 2.80
6 A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol Cell 2010 2.77
7 Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007 2.54
8 Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet 2007 2.22
9 Single-molecule denaturation mapping of DNA in nanofluidic channels. Proc Natl Acad Sci U S A 2010 2.13
10 The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015 2.12
11 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003 2.03
12 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet 2008 1.70
13 Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet 2012 1.64
14 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat 2012 1.50
15 Jarid1b targets genes regulating development and is involved in neural differentiation. EMBO J 2011 1.50
16 Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 2005 1.45
17 The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J 2006 1.40
18 Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet 2005 1.38
19 Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions. Genome Res 2007 1.37
20 Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet B Neuropsychiatr Genet 2012 1.37
21 Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol 2010 1.35
22 Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing. Genome Res 2011 1.34
23 Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet 2013 1.34
24 Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 2007 1.33
25 A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat 2009 1.32
26 Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet 2007 1.27
27 REST-mediated recruitment of polycomb repressor complexes in mammalian cells. PLoS Genet 2012 1.26
28 Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro. Lung Cancer 2006 1.18
29 Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum 2010 1.18
30 Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A 2004 1.15
31 Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 2005 1.10
32 FISHing with locked nucleic acids (LNA): evaluation of different LNA/DNA mixmers. Mol Cell Probes 2003 1.10
33 Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A 2006 1.09
34 Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A 2012 1.08
35 An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 2004 1.06
36 Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet 2010 1.04
37 Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2). J Biol Chem 2010 1.03
38 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. Eur J Hum Genet 2010 1.03
39 Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A 2006 1.00
40 Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 2013 0.99
41 Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 2010 0.98
42 Genetic association studies in lumbar disc degeneration: a systematic review. PLoS One 2012 0.97
43 Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A 2009 0.97
44 Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae. BMC Genomics 2012 0.96
45 Non-disjunction of chromosome 13. Hum Mol Genet 2007 0.94
46 Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet 2006 0.91
47 Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. Am J Hum Genet 2006 0.90
48 High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 2011 0.89
49 Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Front Genet 2013 0.88
50 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). Gene 2002 0.88
51 Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. Genet Test 2006 0.87
52 Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma. Transfusion 2013 0.87
53 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. BMC Med Genet 2005 0.86
54 Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. Am J Med Genet A 2012 0.86
55 Metaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization. Sensors (Basel) 2010 0.85
56 A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. Am J Med Genet A 2008 0.85
57 Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus. Front Genet 2012 0.84
58 HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet 2002 0.84
59 A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1. Behav Genet 2010 0.83
60 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. Am J Med Genet A 2010 0.83
61 Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA. Anal Biochem 2006 0.83
62 Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A 2011 0.83
63 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. Am J Med Genet A 2004 0.83
64 A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. Mol Vis 2010 0.82
65 Regional differences in expression of specific markers for human embryonic stem cells. Reprod Biomed Online 2007 0.82
66 Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. Eur J Hum Genet 2012 0.82
67 A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am J Med Genet A 2005 0.82
68 The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. Parkinsonism Relat Disord 2011 0.81
69 Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance. Epilepsia 2014 0.81
70 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. Eur J Hum Genet 2009 0.81
71 GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells. DNA Cell Biol 2008 0.80
72 A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet 2008 0.80
73 Sequence analysis of 17 NRXN1 deletions. Am J Med Genet B Neuropsychiatr Genet 2013 0.80
74 Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development. Exp Mol Med 2009 0.80
75 Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements. Arthritis Rheum 2007 0.80
76 Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement. Genes Chromosomes Cancer 2006 0.79
77 A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens. Gene 2006 0.79
78 Sequence and expression analysis of gaps in human chromosome 20. Nucleic Acids Res 2012 0.79
79 Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients. Brain Res Mol Brain Res 2004 0.79
80 The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders. Pharmacogenomics 2003 0.79
81 A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). Epilepsia 2011 0.79
82 Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics 2011 0.79
83 No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. Eur J Hum Genet 2011 0.78
84 Partial USH2A deletions contribute to Usher syndrome in Denmark. Eur J Hum Genet 2015 0.77
85 Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. Am J Med Genet A 2007 0.77
86 Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. Eur J Hum Genet 2010 0.77
87 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. Am J Med Genet A 2011 0.77
88 Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers. Genet Med 2007 0.77
89 Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS). BMC Genet 2002 0.76
90 The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Res 2013 0.76
91 Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet 2011 0.76
92 Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase. Cell Biol Int 2002 0.76
93 An association study between the norepinephrine transporter gene and depression. Psychiatr Genet 2013 0.76
94 Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia 2008 0.75
95 Mutational analysis of the human FATE gene in 144 infertile men. Hum Genet 2003 0.75
96 A novel subtype of distal symphalangism affecting only the 4th finger. Am J Med Genet A 2009 0.75
97 A cryptic unbalanced translocation resulting in del 13q and dup 15q. Am J Med Genet A 2008 0.75
98 Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. Genet Test 2004 0.75
99 Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. Am J Med Genet A 2005 0.75
100 [The genetic basis of epilepsy. The Danish Epilepsy Society]. Ugeskr Laeger 2007 0.75
101 Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24. Am J Med Genet A 2009 0.75
102 9q Subtelomeric deletion syndrome with diaphragmatic hernia. Am J Med Genet A 2009 0.75