Niels Tommerup

Niels Tommerup

UNVERIFIED PROFILE

Are you Niels Tommerup?   Register this Author

Register author
Niels Tommerup

Niels Tommerup

Publications by authors named "Niels Tommerup"

Are you Niels Tommerup?   Register this Author

100Publications

2812Reads

46Profile Views

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

Int J Neurosci 2019 Sep 20;129(9):890-895. Epub 2019 Mar 20.

a Human Molecular Genetics Laboratory , National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS , Faisalabad , Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/00207454.2019.1586686DOI Listing
September 2019

Haploinsufficiency of ARHGAP42 is associated with hypertension.

Eur J Hum Genet 2019 Aug 21;27(8):1296-1303. Epub 2019 Mar 21.

Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0382-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777610PMC
August 2019

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

Hum Mutat 2019 08 14;40(8):1057-1062. Epub 2019 May 14.

Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688968PMC
August 2019

A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family.

Mol Vis 2019 20;25:1-11. Epub 2019 Jan 20.

Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377PMC
June 2019

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

Brain Imaging Behav 2018 Dec;12(6):1569-1582

Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11682-017-9817-5DOI Listing
December 2018

Challenges for the Sustainability of University-Run Biobanks.

Biopreserv Biobank 2018 Aug 17;16(4):312-321. Epub 2018 Jul 17.

5 Center for Information and Innovation Law (CIIR), University of Copenhagen , Copenhagen, Denmark .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/bio.2018.0054DOI Listing
August 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Am J Hum Genet 2018 06 24;102(6):1090-1103. Epub 2018 May 24.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120PMC
June 2018

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

Hum Mutat 2018 05 20;39(5):709-716. Epub 2018 Feb 20.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23408DOI Listing
May 2018

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

Eur J Med Genet 2017 Dec 2;60(12):627-630. Epub 2017 Aug 2.

Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.07.017DOI Listing
December 2017

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

Nephrology (Carlton) 2017 Oct;22(10):818-820

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nep.13097DOI Listing
October 2017

Genome-Wide Supported Risk Variants in , , , , and Contribute to Schizophrenia Susceptibility in Pakistani Population.

Psychiatry Investig 2017 Sep 11;14(5):687-692. Epub 2017 Sep 11.

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://psychiatryinvestigation.org/journal/view.php?doi=10.4
Publisher Site
http://dx.doi.org/10.4306/pi.2017.14.5.687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639139PMC
September 2017

Abdominal Wall Defects in Greenland 1989-2015.

Birth Defects Res 2017 Jul 2;109(11):836-842. Epub 2017 May 2.

Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1025DOI Listing
July 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis.

Neurol Neuroimmunol Neuroinflamm 2016 Aug 16;3(4):e249. Epub 2016 Jun 16.

Danish Center for Sleep Medicine (P.J.J., S.K.) and Molecular Sleep Laboratory, Department of Clinical Biochemistry (B.R.K., S.G.), University of Copenhagen, Rigshospitalet, Glostrup, Denmark; Norwegian Centre of Expertise for Neurodevelopmental Disorders and Hypersomnias (NevSom) (S.K.), Oslo University Hospital, Ullevål, Norway; Department of Neurology (N.M.I.), University of Copenhagen, Hillerød Hospital; Department of Cellular and Molecular Medicine, Panum Institute (N.T.), and Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Science (N.M.), University of Copenhagen; Applied Human Molecular Genetics (Z.T.), Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXI.0000000000000249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911794PMC
August 2016

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

Hum Mutat 2016 Apr 4;37(4):385-95. Epub 2016 Feb 4.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, 2600, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22953DOI Listing
April 2016

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

BMC Med Genet 2016 Apr 14;17:29. Epub 2016 Apr 14.

Wilhelm Johannsen Center for Functional Genome Research, Institute of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, DK-2200, Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-016-0292-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831126PMC
April 2016

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

J Hum Genet 2016 Mar 10;61(3):271-3. Epub 2015 Dec 10.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.138DOI Listing
March 2016

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

Hum Genet 2016 Mar 2;135(3):345-57. Epub 2016 Feb 2.

Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1635-0DOI Listing
March 2016

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Eur J Hum Genet 2015 Dec 25;23(12):1646-51. Epub 2015 Mar 25.

Clinical Genetics Clinic, The Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795208PMC
December 2015

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

Eur J Med Genet 2015 Dec 10;58(12):650-3. Epub 2015 Nov 10.

Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark; Department of Clinical Medicine, University of Copenhagen, DK-2200, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.11.004DOI Listing
December 2015

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

Mol Cytogenet 2015 30;8:106. Epub 2015 Dec 30.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277, 05508-090 São Paulo, SP Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-015-0205-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696321PMC
December 2015

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

RNA 2015 Jun 22;21(6):1085-95. Epub 2015 Apr 22.

Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Can Ruti Campus, Badalona, Barcelona 08916, Spain Josep Carreras Leukaemia Research Institute (IJC), ICO-Hospital GermansTrias i Pujol, Badalona, Barcelona 08916, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1261/rna.046482.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436662PMC
June 2015

Automation of a single-DNA molecule stretching device.

Rev Sci Instrum 2015 Jun;86(6):063702

Department of Micro- and Nanotechnology, Technical University of Denmark, Kongens Lyngby, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1063/1.4922068DOI Listing
June 2015

Dysregulation of FOXG1 by ring chromosome 14.

Mol Cytogenet 2015 9;8:24. Epub 2015 Apr 9.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-015-0129-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404611PMC
April 2015

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

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK-2200, Denmark,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222360PMC
December 2014

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

Epilepsia 2014 Dec 19;55(12):2017-27. Epub 2014 Nov 19.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark; Research Laboratory for Stereology and Neuroscience, Bispebjerg Hospital, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12839DOI Listing
December 2014

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

Eur J Hum Genet 2014 Nov 19;22(11):1290-7. Epub 2014 Feb 19.

Department of Biological Sciences, CW-405 Biological Sciences Building, University of Alberta, Edmonton, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200433PMC
November 2014

Neural correlates of taste perception in congenital olfactory impairment.

Neuropsychologia 2014 Sep 29;62:297-305. Epub 2014 Jul 29.

Harland Sanders Chair, School of Optometry, University of Montreal, Quebec, Canada; Brain Research and Integrative Neuroscience Laboratory, Department of Neuroscience and Pharmacology, Panum Institute, University of Copenhagen, Denmark; Danish Research Centre for Magnetic Resonance, Copenhagen University Hospital, Hvidovre, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuropsychologia.2014.07.018DOI Listing
September 2014

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

Eur J Hum Genet 2014 Mar 17;22(3):338-43. Epub 2013 Jul 17.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925275PMC
March 2014

Sequence analysis of 17 NRXN1 deletions.

Am J Med Genet B Neuropsychiatr Genet 2014 Jan 25;165B(1):52-61. Epub 2013 Sep 25.

Research Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32204DOI Listing
January 2014

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

Transfusion 2013 Nov 3;53(11 Suppl 2):2892-8. Epub 2013 Apr 3.

Department of Clinical Immunology, Center for Genomic Medicine, Department of Obstetrics and Gynecology, Copenhagen University Hospital, Copenhagen, Denmark; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/trf.12172
Publisher Site
http://dx.doi.org/10.1111/trf.12172DOI Listing
November 2013

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

Epilepsy Res 2013 Jul 8;105(1-2):229-33. Epub 2013 Jan 8.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2012.11.004DOI Listing
July 2013

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

Front Genet 2013 16;4:54. Epub 2013 Apr 16.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark ; Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2013.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627139PMC
April 2013

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

Eur J Hum Genet 2012 Dec 23;20(12):1315-9. Epub 2012 May 23.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499750PMC
December 2012

REST-mediated recruitment of polycomb repressor complexes in mammalian cells.

PLoS Genet 2012 1;8(3):e1002494. Epub 2012 Mar 1.

Biotech Research and Innovation Centre (BRIC) and Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.plos.org/10.1371/journal.pgen.1002494
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1002494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291536PMC
September 2012

Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae.

BMC Genomics 2012 Sep 6;13:459. Epub 2012 Sep 6.

Department of Veterinary Clinical and Animal Sciences, Section of Anatomy, Cell Biology, Genetics and Bioinformatics, University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-13-459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3465251PMC
September 2012

Sequence and expression analysis of gaps in human chromosome 20.

Nucleic Acids Res 2012 Aug 17;40(14):6660-72. Epub 2012 Apr 17.

Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Blegdamsvej 3B, DK-2200 Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gks302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413113PMC
August 2012

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

Sensors (Basel) 2010 2;10(11):9831-46. Epub 2010 Nov 2.

DTU-Nanotech, Department of Micro and Nanotechnology, Technical University of Denmark, Kgs Lyngby 2800, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/s101109831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3231008PMC
June 2012

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

Am J Med Genet B Neuropsychiatr Genet 2012 Apr 15;159B(3):354-8. Epub 2012 Feb 15.

Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32036DOI Listing
April 2012

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

Eur J Hum Genet 2012 Jan 24;20(1):119-21. Epub 2011 Aug 24.

Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234508PMC
January 2012

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

Eur J Med Genet 2011 Jul-Aug;54(4):e383-8. Epub 2011 Mar 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212110004
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.03.008DOI Listing
October 2011

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

Genome Res 2011 Aug 9;21(8):1388-93. Epub 2011 May 9.

Department of Science, Systems and Models, Roskilde University, DK-4000 Roskilde, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.117416.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149504PMC
August 2011

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

Neurogenetics 2011 Aug 4;12(3):247-51. Epub 2011 Jun 4.

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-011-0286-5DOI Listing
August 2011

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 Mar 22;155A(3):652-5. Epub 2011 Feb 22.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33855
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33855DOI Listing
March 2011

A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.

Behav Genet 2011 Jan 27;41(1):125-33. Epub 2010 Aug 27.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10519-010-9389-2DOI Listing
January 2011

Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2).

J Biol Chem 2010 Aug 15;285(33):25115-25. Epub 2010 Jun 15.

Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3. 2200 Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M109.089516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2919073PMC
August 2010

Single-molecule denaturation mapping of DNA in nanofluidic channels.

Proc Natl Acad Sci U S A 2010 Jul 7;107(30):13294-9. Epub 2010 Jul 7.

Department of Physics, McGill University, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1007081107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922186PMC
July 2010

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

Nature 2010 Mar;464(7286):306-10

Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Ole Maaløes Vej 5, 2200 Copenhagen N, Denmark.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nature08788
Publisher Site
http://dx.doi.org/10.1038/nature08788DOI Listing
March 2010

Autoimmune diseases in women with Turner's syndrome.

Arthritis Rheum 2010 Mar;62(3):658-66

Department of Epidemiology Research, Statens, Serum Institut, 5 Artillerivej, DK-2300 Copenhagen S, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.27270DOI Listing
March 2010

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

Mol Vis 2010 Mar 30;16:549-55. Epub 2010 Mar 30.

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE), Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846847PMC
March 2010

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 Feb;152A(2):495-7

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33234
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33234DOI Listing
February 2010

Compound heterozygous ASPM mutations in Pakistani MCPH families.

Am J Med Genet A 2009 May;149A(5):926-30

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32749DOI Listing
May 2009

9q Subtelomeric deletion syndrome with diaphragmatic hernia.

Am J Med Genet A 2009 May;149A(5):1086-8

Danish Epilepsy Centre, Dianalund, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32823DOI Listing
May 2009