E. Frengen

发表

An improved approach for construction of bacterial artificial chromosome libraries.

P. D. de Jong, K. Osoegawa, J. Catanese, 1998, Genomics.

Transfer of small YACs to E. coli as large circular plasmids.

P. D. de Jong, C. Wu, E. Frengen, 1997, Genetic analysis : biomolecular engineering.

Identification of novel splice variants of the human catalytic subunit Cbeta of cAMP-dependent protein kinase.

E. Frengen, T. Jahnsen, S. Ørstavik, 2001, European journal of biochemistry.

The gene for human transcription factor TCF11 is located telomeric to D17S1827, BTR and HP1Hsbeta on chromosome 17q22.

A. Kolstø, E. Frengen, N. Skammelsrud, 1999, Genetic analysis : biomolecular engineering.

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

D. Misceo, K. Ørstavik, T. Iqbal, 2016, Neuromuscular Disorders.

A retroviral vector for siRNA expression in mammalian cells

C. Perou, A. Børresen-Dale, E. Frengen, 2007, Molecular biotechnology.

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

D. Misceo, J. Koht, L. Bindoff, 2014, PloS one.

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

E. Frengen, B. Paus, S. S. Amundsen, 2015, BMC Medical Genetics.

STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.

S. Corti, D. Misceo, J. Reseland, 2019, Cell calcium.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2017, Genetics in Medicine.

Long-range mapping of the calcium release channel and glucosephosphate isomerase loci using pulsed-field gel electrophoresis.

E. Frengen, W. Davies, 2009, Animal genetics.

Alternative transcripts of the candidate tumor suppressor gene, WWOX, are expressed at high levels in human breast tumors

H. Prydz, R. Lidereau, E. Frengen, 2002, Oncogene.

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

D. Misceo, E. Frengen, O. Rødningen, 2014, European journal of medical genetics.

Increasing the resolution of the comet assay using fluorescent in situ hybridization--a review.

A. Collins, E. Frengen, S. Shaposhnikov, 2009, Mutagenesis.

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

Human TGF-β1 deficiency causes severe inflammatory bowel disease and neurodevelopmental delay

D. Misceo, C. Klein, I. Borggraefe, 2018 .

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

Isolation, characterization and chromosomal assignment of a partial cDNA for porcine 6-phosphogluconate dehydrogenase.

E. Frengen, I. Gustavsson, B. Chowdhary, 2008, Hereditas.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

D. Misceo, C. Venditti, R. Wevers, 2022, Brain : a journal of neurology.

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

D. Misceo, M. Rocchi, E. Ormerod, 2008, American journal of medical genetics. Part A.

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

D. Misceo, C. Gilissen, P. Strømme, 2019, Pediatric neurology.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

D. Koboldt, N. Katsanis, S. Daiger, 2020, American journal of 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.

Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance.

Jae-Hyun Park, Mikala Egeblad, Andrew J Ewald, 2012, Cancer cell.

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

D. Misceo, P. Strømme, E. Frengen, 2011, American journal of medical genetics. Part A.

X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.

T. Egeland, G. Gilfillan, E. Ormerod, 2009, The Journal of clinical endocrinology and metabolism.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

D. Misceo, S. Ferdinandusse, H. Waterham, 2015, Human molecular genetics.

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.

D. Misceo, H. Westerblad, G. Christensen, 2018, Cell calcium.

A Dominant STIM1 Mutation Causes Stormorken Syndrome

D. Misceo, R. Lyle, A. Stray-Pedersen, 2014, Human mutation.

shRNA Expression Constructs Designed Directly from siRNA Oligonucleotide Sequences

E. Frengen, T. Barøy, M. Lindeberg, 2010, Molecular biotechnology.

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

D. Misceo, C. Klein, S. Snapper, 2018, Nature Genetics.

A Core MYC Gene Expression Signature Is Prominent in Basal-Like Breast Cancer but Only Partially Overlaps the Core Serum Response

Sarah A. Pendergrass, Charles M. Perou, Michael L. Whitfield, 2009, PloS one.

A bacterial artificial chromosome library for sequencing the complete human genome.

P. D. de Jong, K. Osoegawa, J. Catanese, 2001, Genome research.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression

D. Misceo, Ø. Braaten, E. Frengen, 2013, American journal of medical genetics. Part A.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

Organization, chromosomal localization and promoter analysis of the gene encoding human acidic fibroblast growth factor intracellular binding protein.

T. Stokke, E. Frengen, S. Olsnes, 2000, The Biochemical journal.

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

D. Misceo, E. Ormerod, G. Houge, 2009, American journal of medical genetics. Part A.

Bacterial artificial chromosome libraries for mouse sequencing and functional analysis.

P. D. de Jong, K. Osoegawa, Y. Hayashizaki, 2000, Genome research.

A modular, positive selection bacterial artificial chromosome vector with multiple cloning sites.

P. D. de Jong, K. Osoegawa, B. Zhao, 1999, Genomics.

CHARACTERIZATION OF THE GENE ENCODING THE HUMAN TYPE II CGMP-DEPENDENT PROTEIN KINASE (PRKG2)

E. Frengen, T. Jahnsen, S. Ørstavik, 1998 .

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

D. Misceo, D. Schneidman-Duhovny, J. Duncan, 2020, bioRxiv.

A homozygous missense mutation in SLCO1C1 may cause a novel progressive encephalopathy syndrome A student thesis in medicine by Anette Torgersbråten 2 Acknowledgements

D. Misceo, E. Frengen, A. Holmgren, 2016 .

A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.

D. Misceo, E. Frengen, N. Andreescu, 2014, Gene.

High-resolution integrated map encompassing the breast cancer loss of heterozygosity region on human chromosome 16q22.1.

P. Rocca-Serra, H. Prydz, L. Taine, 2000, Genomics.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1.

A. Collins, S. Akopov, E. Frengen, 2007, Genomics.

siRNA: a potential tool for future breast cancer therapy?

C. Perou, T. I. Andersen, E. Frengen, 2006, Critical reviews in oncogenesis.

Porcine SINEs: characterization and use in species-specific amplification.

T. Kristensen, E. Frengen, P. Thomsen, 1991, Genomics.

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22

D. Misceo, M. Rocchi, E. Frengen, 2009, American journal of medical genetics. Part A.

Construction of Bacterial Artificial Chromosome (BAC/PAC) Libraries

K. Osoegawa, P. Jong, P. Ioannou, 2001, Current protocols in molecular biology.

Construction of Bacterial Artificial Chromosome (BAC/PAC) Libraries

K. Osoegawa, P. Jong, P. Ioannou, 1999, Current protocols in human genetics.

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

D. Misceo, E. Frengen, M. Fannemel, 2015, Molecular Cytogenetics.

Isolation of region-specific probes from pig Chromosome 6 by coincidence cloning

E. Frengen, G. Frelat, A. Schmitz, 1994, Mammalian Genome.

A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects

P. D. de Jong, K. Osoegawa, B. Zhu, 2005, BMC Genomics.

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

D. Misceo, E. Frengen, M. Fannemel, 2013, European journal of medical genetics.

Universitet GRIN 2 B encephalopathy novel findings on phenotype , variant clustering , functional consequences and treatment aspects

Mieke, K. Platzer, W. Tan, 2017 .

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

D. Misceo, Ø. Braaten, E. Frengen, 2012, Gene.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

D. Misceo, A. Stray-Pedersen, P. Strømme, 2013, Orphanet Journal of Rare Diseases.

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

D. Misceo, P. Strømme, E. Frengen, 2015, American journal of medical genetics. Part A.

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation

D. Misceo, C. Romanin, J. Reseland, 2023, Science Signaling.

SCA27 caused by a chromosome translocation: further delineation of the phenotype

D. Misceo, R. Roberto, P. Strømme, 2009, neurogenetics.

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

D. Misceo, P. Strømme, E. Frengen, 2016, Genes.

Global Gene Expression Analysis Reveals a Link between NDRG1 and Vesicle Transport

D. Ross, A. Børresen-Dale, M. Tranulis, 2014, PloS one.

Structural and Functional Organization of the Gene Encoding the Human Thyrotropin‐Releasing Hormone Receptor

K. Gautvik, E. Frengen, S. Ørstavik, 1999, Journal of neurochemistry.

Cloning and Characterization of MDDX28, a Putative DEAD-box Helicase with Mitochondrial and Nuclear Localization*

H. Prydz, R. Valgardsdottir, G. Brede, 2001, The Journal of Biological Chemistry.

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

D. Misceo, H. Omran, N. Katsanis, 2020, Human mutation.

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

D. Misceo, R. Rodenburg, P. Strømme, 2016, European journal of medical genetics.

Little is known about the dynamics of cancer cell death in response to therapy in the tumor microenvironment

Z. Werb, M. Bissell, V. Plaks, 2012 .

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

D. Misceo, A. Stray-Pedersen, P. Strømme, 2016, Genes.

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

D. Misceo, P. Strømme, E. Frengen, 2010, European journal of medical genetics.

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

D. Misceo, C. Gilissen, A. Server, 2020, BMC Medical Genetics.

Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.

D. Misceo, H. Zetterberg, T. Visser, 2018, Thyroid : official journal of the American Thyroid Association.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay

D. Misceo, E. Frengen, M. Fannemel, 2015, American journal of medical genetics. Part A.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2018, Genetics in Medicine.

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

D. Misceo, O. Kanavin, E. Frengen, 2012, European journal of medical genetics.

Modular bacterial artificial chromosome vectors for transfer of large inserts into mammalian cells.

P. D. de Jong, K. Osoegawa, H. Prydz, 2000, Genomics.

Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.

D. Misceo, E. Frengen, V. Dissanayake, 2014, Gene.

Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies.

K. Pietiläinen, T. Lüders, I. Bukholm, 2014, Metabolism: clinical and experimental.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

D. Misceo, T. Nyman, B. Dalhus, 2023, Brain : a journal of neurology.

The gene cluster containing the LCAT gene is conserved between human and pig.

P. D. de Jong, H. Prydz, G. Brede, 1997, Cytogenetics and cell genetics.

Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance.

Z. Werb, M. Bissell, V. Plaks, 2012, Cancer cell.

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

D. Misceo, E. Ormerod, G. Houge, 2009, American journal of medical genetics. Part A.

A Dominant STIM1 Mutation Causes Stormorken Syndrome

D. Misceo, R. Lyle, A. Stray-Pedersen, 2014, Human mutation.

Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells

H. Prydz, E. Frengen, E. Gjernes, 2009, BMC biotechnology.