Adam Ameur

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

Schmitz, Daniel; Ameur, Adam; Johansson, Åsa

Ingår i Genome Research, s. 2377-2388, 2025

• DOI för T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee et al.

Ingår i Genome Research, s. 1774-1784, 2024

• DOI för A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Long-read whole-genome analysis of human single cells

Hård, Joanna; Mold, Jeff E; Eisfeldt, Jesper; Tellgren-Roth, Christian et al.

Ingår i Nature Communications, 2023

• DOI för Long-read whole-genome analysis of human single cells
• Ladda ner fulltext (pdf) av Long-read whole-genome analysis of human single cells

CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Höijer, Ida; Emmanouilidou, Anastasia; Östlund, Rebecka; van Schendel, Robin et al.

Ingår i Nature Communications, 2022

• DOI för CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
• Ladda ner fulltext (pdf) av CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts

Zaghlool, Ammar; Niazi, Adnan; Björklund, Åsa K.; Orzechowski Westholm, Jakub et al.

Ingår i Scientific Reports, 2021

• DOI för Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts
• Ladda ner fulltext (pdf) av Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts

CRISPR and Long-Read Sequencing: A Perfect Match.

Ameur, Adam

Ingår i The CRISPR journal, s. 425-427, 2020

• DOI för CRISPR and Long-Read Sequencing: A Perfect Match.

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Höijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan et al.

Ingår i Genome Biology, 2020

• DOI för Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
• Ladda ner fulltext (pdf) av Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Single-Molecule Sequencing: Towards Clinical Applications

Ameur, Adam; Kloosterman, Wigard P.; Hestand, Matthew S.

Ingår i Trends in Biotechnology, s. 72-85, 2019

• DOI för Single-Molecule Sequencing: Towards Clinical Applications

Goodbye reference, hello genome graphs

Ameur, Adam

Ingår i Nature Biotechnology, s. 866-868, 2019

• DOI för Goodbye reference, hello genome graphs

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Ardui, Simon; Ameur, Adam; Vermeesch, Joris R.; Hestand, Matthew S.

Ingår i Nucleic Acids Research, s. 2159-2168, 2018

• DOI för Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Ingår i Human Mutation, s. 1262-1272, 2018

• DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

Ameur, Adam; Che, Huiwen; Martin, Marcel; Bunikis, Ignas et al.

Ingår i Genes, 2018

• DOI för De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
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SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Ameur, Adam; Dahlberg, Johan; Olason, Pall; Vezzi, Francesco et al.

Ingår i European Journal of Human Genetics, s. 1253-1260, 2017

• DOI för SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
• Ladda ner fulltext (pdf) av SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

Pan, Gang; Ameur, Adam; Enroth, Stefan; Bysani, Madhusudhan et al.

Ingår i Nucleic Acids Research, s. 2408-2422, 2017

• DOI för PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

Identification of novel genetic causes of Rett syndrome-like phenotypes

Lopes, Fatima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela et al.

Ingår i Journal of Medical Genetics, s. 190-199, 2016

• DOI för Identification of novel genetic causes of Rett syndrome-like phenotypes

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Cavelier, Lucia; Ameur, Adam; Häggqvist, Susana; Höijer, Ida et al.

Ingår i BMC Cancer, 2015

• DOI för Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
• Ladda ner fulltext (pdf) av Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

Ameur, Adam; Bunikis, Ignas; Enroth, Stefan; Gyllensten, Ulf

Ingår i Database, 2014

• DOI för CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

Comprehensive profiling of the vaginal microbiome in HIV positive women using massive parallel semiconductor sequencing

Ameur, Adam; Meiring, Tracy L.; Bunikis, Ignas; Häggqvist, Susana et al.

Ingår i Scientific Reports, s. 4398, 2014

• DOI för Comprehensive profiling of the vaginal microbiome in HIV positive women using massive parallel semiconductor sequencing
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Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Ameur, Adam; Enroth, Stefan; Johansson, Åsa; Zaboli, Ghazal et al.

Ingår i American Journal of Human Genetics, s. 809-820, 2012

• DOI för Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

Ameur, Adam; Zaghlool, Ammar; Halvardson, Jonatan; Wetterbom, Anna et al.

Ingår i Nature Structural & Molecular Biology, s. 1435-1440, 2011

• DOI för Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

Global and unbiased detection of splice junctions from RNA-seq data

Ameur, Adam; Wetterbom, Anna; Feuk, Lars; Gyllensten, Ulf

Ingår i Genome Biology, 2010

• DOI för Global and unbiased detection of splice junctions from RNA-seq data

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing

Wetterbom, Anna; Ameur, Adam; Feuk, Lars; Gyllensten, Ulf et al.

Ingår i Genome Biology, 2010

• DOI för Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Birney, Ewan; Stamatoyannopoulos, John A.; Dutta, Anindya; Guigó, Roderic et al.

Ingår i Nature, s. 799-816, 2007

• DOI för Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases

Höjer, Pontus; Alneberg, Johannes; Lundin, Pär; Martin, Tom et al.

Ingår i NAR Genomics and Bioinformatics, 2026

• DOI för Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases
• Ladda ner fulltext (pdf) av Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

Lenner, Felix; Jemt, Anders; Pena Perez, Lucia; Neethiraj, Ramprasad et al.

Ingår i Bioinformatics, 2026

• DOI för Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
• Ladda ner fulltext (pdf) av Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

Schmitz, Daniel; Ameur, Adam; Johansson, Åsa

Ingår i Genome Research, s. 2377-2388, 2025

• DOI för T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

Izydorczyk, Michal B.; Kalef-Ezra, Ester; Horner, Dominic W.; Zheng, Xinchang et al.

Ingår i Communications Biology, 2025

• DOI för Single cell long read whole genome sequencing reveals somatic transposon activity in human brain
• Ladda ner fulltext (pdf) av Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups

Ralf, Arwin; Zandstra, Dion; van Wersch, Bram; Köksal, Zehra et al.

Ingår i European Journal of Human Genetics, s. 904-912, 2025

• DOI för UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups
• Ladda ner fulltext (pdf) av UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups

Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases

Höjer, Pontus; Alneberg, Johannes; Lundin, Pär; Martin, Tom et al.

Ingår i NAR Genomics and Bioinformatics, 2026

• DOI för Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases
• Ladda ner fulltext (pdf) av Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

Lenner, Felix; Jemt, Anders; Pena Perez, Lucia; Neethiraj, Ramprasad et al.

Ingår i Bioinformatics, 2026

• DOI för Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
• Ladda ner fulltext (pdf) av Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

Schmitz, Daniel; Ameur, Adam; Johansson, Åsa

Ingår i Genome Research, s. 2377-2388, 2025

• DOI för T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

Izydorczyk, Michal B.; Kalef-Ezra, Ester; Horner, Dominic W.; Zheng, Xinchang et al.

Ingår i Communications Biology, 2025

• DOI för Single cell long read whole genome sequencing reveals somatic transposon activity in human brain
• Ladda ner fulltext (pdf) av Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups

Ralf, Arwin; Zandstra, Dion; van Wersch, Bram; Köksal, Zehra et al.

Ingår i European Journal of Human Genetics, s. 904-912, 2025

• DOI för UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups
• Ladda ner fulltext (pdf) av UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee et al.

Ingår i Genome Research, s. 1774-1784, 2024

• DOI för A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

De Coster, Wouter; Höijer, Ida; Bruggeman, Inge; D'Hert, Svenn et al.

Ingår i Genome Research, s. 2074-2080, 2024

• DOI för Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
• Ladda ner fulltext (pdf) av Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

Wallenius, Joel; Kafantari, Efthymia; Jhaveri, Emma; Gorcenco, Sorina et al.

Ingår i American Journal of Human Genetics, s. 82-95, 2024

• DOI för Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease
• Ladda ner fulltext (pdf) av Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma

Sydow, Saskia; Piccinelli, Paul; Mitra, Shamik; Tsagkozis, Panagiotis et al.

Ingår i Communications Biology, 2024

• DOI för MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma
• Ladda ner fulltext (pdf) av MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia et al.

Ingår i European Journal of Human Genetics, 2024

• DOI för Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
• Ladda ner fulltext (pdf) av Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse D.; Lun, Ming Yin et al.

Ingår i Genome Research, s. 1785-1797, 2024

• DOI för Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

ten Berk de Boer, Esmee; Ameur, Adam; Bunikis, Ignas; Ek, Marlene et al.

Ingår i Scientific Reports, 2024

• DOI för Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
• Ladda ner fulltext (pdf) av Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing

Lysenkova, Mariya; Arvidsson, Gustav; Bunikis, Ignas; Lundmark, Anders et al.

Ingår i Life Science Alliance, 2024

• DOI för A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
• Ladda ner fulltext (pdf) av A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing

The long non-coding RNA LINC00707 interacts with Smad proteins to regulate TGFβ signaling and cancer cell invasion

Gélabert, Caroline; Papoutsoglou, Panagiotis; Cancela Golan, Irene; Ahlström, Eric et al.

Ingår i Cell Communication and Signaling, 2023

• DOI för The long non-coding RNA LINC00707 interacts with Smad proteins to regulate TGFβ signaling and cancer cell invasion
• Ladda ner fulltext (pdf) av The long non-coding RNA LINC00707 interacts with Smad proteins to regulate TGFβ signaling and cancer cell invasion

Copy number variations and their effect on the plasma proteome

Schmitz, Daniel; Li, Zhiwei; Lo Faro, Valeria; Rask-Andersen, Mathias et al.

Ingår i Genetics, 2023

• DOI för Copy number variations and their effect on the plasma proteome
• Ladda ner fulltext (pdf) av Copy number variations and their effect on the plasma proteome

Transposable element insertions in 1000 Swedish individuals

Saether, Kristine Bilgrav; Nilsson, Daniel; Thonberg, Håkan; Tham, Emma et al.

Ingår i PLOS ONE, 2023

• DOI för Transposable element insertions in 1000 Swedish individuals
• Ladda ner fulltext (pdf) av Transposable element insertions in 1000 Swedish individuals

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots

Lazarian, Gregory; Leroy, Bernard; Theves, Floriane; Hormi, Myriam et al.

Ingår i Human Mutation, 2023

• DOI för The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots

A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Johansson, Josefin; Lidéus, Sarah; Höijer, Ida; Ameur, Adam et al.

Ingår i Scientific Reports, 2023

• DOI för A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
• Ladda ner fulltext (pdf) av A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Complete Mitochondrial DNA Genome Variation in the Swedish Population

Andreaggi, Kimberly; Bodner, Martin; Ring, Joseph D.; Ameur, Adam et al.

Ingår i Genes, s. 1989-1989, 2023

• DOI för Complete Mitochondrial DNA Genome Variation in the Swedish Population
• Ladda ner fulltext (pdf) av Complete Mitochondrial DNA Genome Variation in the Swedish Population

Long-read whole-genome analysis of human single cells

Hård, Joanna; Mold, Jeff E; Eisfeldt, Jesper; Tellgren-Roth, Christian et al.

Ingår i Nature Communications, 2023

• DOI för Long-read whole-genome analysis of human single cells
• Ladda ner fulltext (pdf) av Long-read whole-genome analysis of human single cells

Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH

Lysenkova Wiklander, Mariya; Övernäs, Elin; Lagensjö, Johanna; Raine, Amanda et al.

Ingår i BMC Research Notes, 2023

• DOI för Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH
• Ladda ner fulltext (pdf) av Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH

Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas

Weishaupt, Holger; Čančer, Matko; Rosén, Gabriela; Holmberg, Karl O. et al.

Ingår i Neuro-Oncology, s. 97-107, 2023

• DOI för Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas
• Ladda ner fulltext (pdf) av Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

Wang, Zhe; Emmerich, Andrew; Pillon, Nicolas J; Moore, Tim et al.

Ingår i Nature Genetics, s. 1332-1344, 2022

• DOI för Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
• Ladda ner fulltext (pdf) av Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Höijer, Ida; Emmanouilidou, Anastasia; Östlund, Rebecka; van Schendel, Robin et al.

Ingår i Nature Communications, 2022

• DOI för CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
• Ladda ner fulltext (pdf) av CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi et al.

Ingår i American Journal of Medical Genetics. Part A, s. 1676-1687, 2022

• DOI för Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
• Ladda ner fulltext (pdf) av Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes

Sturk-Andreaggi, Kimberly; Ring, Joseph D.; Ameur, Adam; Gyllensten, Ulf et al.

Ingår i International Journal of Molecular Sciences, 2022

• DOI för The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes
• Ladda ner fulltext (pdf) av The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Schaal, Wesley; Ameur, Adam; Olsson-Strömberg, Ulla; Hermansson, Monica et al.

Ingår i Cancer Informatics, s. 1-8, 2022

• DOI för Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening
• Ladda ner fulltext (pdf) av Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

Ingår i Cellular and Molecular Life Sciences (CMLS), s. 4019-4033, 2021

• DOI för Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
• Ladda ner fulltext (pdf) av Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

Riaz, Moeen; Mattisson, Jonas; Polekhina, Galina; Bakshi, Andrew et al.

Ingår i Cell & Bioscience, 2021

• DOI för A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells
• Ladda ner fulltext (pdf) av A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts

Zaghlool, Ammar; Niazi, Adnan; Björklund, Åsa K.; Orzechowski Westholm, Jakub et al.

Ingår i Scientific Reports, 2021

• DOI för Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts
• Ladda ner fulltext (pdf) av Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

Ilumae, Anne-Mai; Post, Helen; Flores, Rodrigo; Karmin, Monika et al.

Ingår i European Journal of Human Genetics, s. 1510-1519, 2021

• DOI för Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

CRISPR and Long-Read Sequencing: A Perfect Match.

Ameur, Adam

Ingår i The CRISPR journal, s. 425-427, 2020

• DOI för CRISPR and Long-Read Sequencing: A Perfect Match.

Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

Madsen, Esben B; Höijer, Ida; Kvist, Thomas; Ameur, Adam et al.

Ingår i Human Mutation, s. 1671-1679, 2020

• DOI för Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting
• Ladda ner fulltext (pdf) av Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach

von der Heyde, Benedikt; Emmanouilidou, Anastasia; Mazzaferro, Eugenia; Vicenzi, Silvia et al.

Ingår i Scientific Reports, 2020

• DOI för Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
• Ladda ner fulltext (pdf) av Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly

Pinese, Mark; Lacaze, Paul; Rath, Emma M.; Stone, Andrew et al.

Ingår i Nature Communications, 2020

• DOI för The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
• Ladda ner fulltext (pdf) av The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly

Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia

Halvorsen, Matthew; Huh, Ruth; Oskolkov, Nikolay; Wen, Jia et al.

Ingår i Nature Communications, 2020

• DOI för Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
• Ladda ner fulltext (pdf) av Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia

Molecular characterization of a large unselected cohort of metastatic colorectal cancers in relation to primary tumor location, rare metastatic sites and prognosis

Nunes, Luís; Aasebø, Kristine; Mathot, Lucy; Ljungström, Viktor et al.

Ingår i Acta Oncologica, s. 417-426, 2020

• DOI för Molecular characterization of a large unselected cohort of metastatic colorectal cancers in relation to primary tumor location, rare metastatic sites and prognosis
• Ladda ner fulltext (pdf) av Molecular characterization of a large unselected cohort of metastatic colorectal cancers in relation to primary tumor location, rare metastatic sites and prognosis

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Höijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan et al.

Ingår i Genome Biology, 2020

• DOI för Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
• Ladda ner fulltext (pdf) av Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes

Nordin, Jessika; Ameur, Adam; Lindblad-Toh, Kerstin; Gyllensten, Ulf et al.

Ingår i European Journal of Human Genetics, s. 627-635, 2020

• DOI för SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes
• Ladda ner fulltext (pdf) av SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes

Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes

Fatima, Nazeefa; Petri, Anna; Gyllensten, Ulf; Feuk, Lars et al.

Ingår i Genes, 2020

• DOI för Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes
• Ladda ner fulltext (pdf) av Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes

Discovery of Novel Sequences in 1,000 Swedish Genomes

Eisfeldt, Jesper; Mårtensson, Gustaf; Ameur, Adam; Nilsson, Daniel et al.

Ingår i Molecular biology and evolution, s. 18-30, 2020

• DOI för Discovery of Novel Sequences in 1,000 Swedish Genomes
• Ladda ner fulltext (pdf) av Discovery of Novel Sequences in 1,000 Swedish Genomes

The TGFB2-AS1 lncRNA regulates TGFβ signaling by modulating corepressor activity

Papoutsoglou, Panagiotis; Tsubakihara, Yutaro; Caja, Laia; Pallis, Paris et al.

Ingår i Cell Reports, s. 3182-319800000000000, 2019

• DOI för The TGFB2-AS1 lncRNA regulates TGFβ signaling by modulating corepressor activity
• Ladda ner fulltext (pdf) av The TGFB2-AS1 lncRNA regulates TGFβ signaling by modulating corepressor activity

The Versatility of SMRT Sequencing

Hestand, Matthew S.; Ameur, Adam

Ingår i Genes, 2019

• DOI för The Versatility of SMRT Sequencing
• Ladda ner fulltext (pdf) av The Versatility of SMRT Sequencing

Goodbye reference, hello genome graphs

Ameur, Adam

Ingår i Nature Biotechnology, s. 866-868, 2019

• DOI för Goodbye reference, hello genome graphs

Invasive cervical tumors with high and low HPV titer represent molecular subgroups with different disease etiology

Cui, Tao; Enroth, Stefan; Ameur, Adam; Gustavsson, Inger et al.

Ingår i Carcinogenesis, s. 269-278, 2019

• DOI för Invasive cervical tumors with high and low HPV titer represent molecular subgroups with different disease etiology

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Ardui, Simon; Ameur, Adam; Vermeesch, Joris R.; Hestand, Matthew S.

Ingår i Nucleic Acids Research, s. 2159-2168, 2018

• DOI för Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
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Expression profiling and in situ screening of circular RNAs in human tissues

Zaghlool, Ammar; Ameur, Adam; Wu, Chenglin; Westholm, Jakub Orzechowski et al.

Ingår i Scientific Reports, 2018

• DOI för Expression profiling and in situ screening of circular RNAs in human tissues
• Ladda ner fulltext (pdf) av Expression profiling and in situ screening of circular RNAs in human tissues

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease

Stattin, Eva-Lena; Johansson, Josefin; Gudmundsson, Sanna; Ameur, Adam et al.

Ingår i American Journal of Medical Genetics. Part A, s. 1405-1410, 2018

• DOI för A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Ingår i Human Mutation, s. 1262-1272, 2018

• DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

Ameur, Adam; Che, Huiwen; Martin, Marcel; Bunikis, Ignas et al.

Ingår i Genes, 2018

• DOI för De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
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Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations

Lode, Laurence; Ameur, Adam; Coste, Thibault; Menard, Audrey et al.

Ingår i Haematologica, 2018

• DOI för Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Frykholm, Carina; Klar, Joakim; Tomanovic, Tatjana; Ameur, Adam et al.

Ingår i European Journal of Human Genetics, s. 1871-1874, 2018

• DOI för Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam et al.

Ingår i Prenatal Diagnosis, s. 1146-1154, 2017

• DOI för A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin, Evalena; Henning, Petra; Klar, Joakim; McDermott, Emma et al.

Ingår i Scientific Reports, 2017

• DOI för SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
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SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Ameur, Adam; Dahlberg, Johan; Olason, Pall; Vezzi, Francesco et al.

Ingår i European Journal of Human Genetics, s. 1253-1260, 2017

• DOI för SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Gudmundsson, Sanna; Wilbe, Maria; Ekvall, Sara; Ameur, Adam et al.

Ingår i Human Molecular Genetics, s. 1070-1077, 2017

• DOI för Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
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A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Bondeson, Marie-Louise; Ericson, Katharina; Gudmundsson, Sanna; Ameur, Adam et al.

Ingår i Clinical Genetics, s. 510-516, 2017

• DOI för A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

Pan, Gang; Ameur, Adam; Enroth, Stefan; Bysani, Madhusudhan et al.

Ingår i Nucleic Acids Research, s. 2408-2422, 2017

• DOI för PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

Identification of novel genetic causes of Rett syndrome-like phenotypes

Lopes, Fatima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela et al.

Ingår i Journal of Medical Genetics, s. 190-199, 2016

• DOI för Identification of novel genetic causes of Rett syndrome-like phenotypes

Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies

Rafati, Nima; Andersson, Lisa S.; Mikko, Sofia; Feng, Chungang et al.

Ingår i G3, s. 2213-2223, 2016

• DOI för Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies
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A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

Hannuksela, Matias; Stattin, Eva-Lena; Klar, Joakim; Ameur, Adam et al.

Ingår i BMC Medical Genetics, 2016

• DOI för A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
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Analysis of hepatitis C NS5A resistance associated polymorphisms using ultra deep single molecule real time (SMRT) sequencing

Bergfors, Assar; Leenheer, Daniel; Bergqvist, Anders; Ameur, Adam et al.

Ingår i Antiviral Research, s. 81-89, 2016

• DOI för Analysis of hepatitis C NS5A resistance associated polymorphisms using ultra deep single molecule real time (SMRT) sequencing

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe, Maria; Ekvall, Sara; Eurenius, Karin; Ericson, Katharina et al.

Ingår i Journal of Medical Genetics, s. 195-202, 2015

• DOI för MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer

Mengelbier, Linda Holmquist; Karlsson, Jenny; Lindgren, David; Valind, Anders et al.

Ingår i Nature Communications, 2015

• DOI för Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer

Differential Expression Analysis by RNA-Seq Reveals Perturbations in the Platelet mRNA Transcriptome Triggered by Pathogen Reduction Systems

Osman, Abdimajid; Hitzler, Walter E.; Ameur, Adam; Provost, Patrick

Ingår i PLOS ONE, 2015

• DOI för Differential Expression Analysis by RNA-Seq Reveals Perturbations in the Platelet mRNA Transcriptome Triggered by Pathogen Reduction Systems
• Ladda ner fulltext (pdf) av Differential Expression Analysis by RNA-Seq Reveals Perturbations in the Platelet mRNA Transcriptome Triggered by Pathogen Reduction Systems

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family

Einarsdottir, Elisabet; Svensson, Idor; Darki, Fahimeh; Peyrard-Janvid, Myriam et al.

Ingår i Human Genetics, s. 1239-1248, 2015

• DOI för Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
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Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.

Rask-Andersen, Mathias; Sällman Almén, Markus; Jacobsson, Josefin A; Ameur, Adam et al.

Ingår i Genetical Research, 2015

• DOI för Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

Klar, Joakim; Raykova, Doroteya; Gustafson, Elisabet; Tóthová, Iveta et al.

Ingår i European Journal of Human Genetics, s. 1679-1683, 2015

• DOI för Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Cavelier, Lucia; Ameur, Adam; Häggqvist, Susana; Höijer, Ida et al.

Ingår i BMC Cancer, 2015

• DOI för Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
• Ladda ner fulltext (pdf) av Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Role of the AMP kinase in cytokine-induced human EndoC-beta H1 cell death

Fred, Rikard G.; Kappe, Camilla; Ameur, Adam; Cen, Jing et al.

Ingår i Molecular and Cellular Endocrinology, s. 53-63, 2015

• DOI för Role of the AMP kinase in cytokine-induced human EndoC-beta H1 cell death
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Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

Schuster, Jens; Halvardson, Jonatan; Lorenzo, Laureanne Pilar; Ameur, Adam et al.

Ingår i Cellular Reprogramming, s. 327-337, 2015

• DOI för Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

Ameur, Adam; Bunikis, Ignas; Enroth, Stefan; Gyllensten, Ulf

Ingår i Database, 2014

• DOI för CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

Comprehensive profiling of the vaginal microbiome in HIV positive women using massive parallel semiconductor sequencing

Ameur, Adam; Meiring, Tracy L.; Bunikis, Ignas; Häggqvist, Susana et al.

Ingår i Scientific Reports, s. 4398, 2014

• DOI för Comprehensive profiling of the vaginal microbiome in HIV positive women using massive parallel semiconductor sequencing
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Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

Klar, Joakim; Hisatsune, Chihiro; Baig, Shahid M.; Tariq, Muhammad et al.

Ingår i Journal of Clinical Investigation, s. 4773-4780, 2014

• DOI för Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

Somatic Cells with a Heavy Mitochondrial DNA Mutational Load Render Induced Pluripotent Stem Cells with Distinct Differentiation Defects

Wahlestedt, Martin; Ameur, Adam; Moraghebi, Roksana; Norddahl, Gudmundur L. et al.

Ingår i Stem Cells, s. 1173-1182, 2014

• DOI för Somatic Cells with a Heavy Mitochondrial DNA Mutational Load Render Induced Pluripotent Stem Cells with Distinct Differentiation Defects

Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues

Zaghlool, Ammar; Ameur, Adam; Nyberg, Linnea; Halvardson, Jonatan et al.

Ingår i BMC Biotechnology, s. 99, 2013

• DOI för Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues
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Transcription factor ZBED6 affects gene expression, proliferation, and cell death in pancreatic beta cells

Wang, Xuan; Jiang, Lin; Wallerman, Ola; Engström, Ulla et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 15997-16002, 2013

• DOI för Transcription factor ZBED6 affects gene expression, proliferation, and cell death in pancreatic beta cells

Omega-3 and omega-6 fatty acids are more efficiently synthesized in populations having a high frequency of the derived FADS-haplotype

Enroth, Stefan; Ameur, Adam; Johansson, Åsa; Gyllensten, Ulf

Ingår i International Journal of Circumpolar Health, s. 511-512, 2013

Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.

Sällman Almén, Markus; Rask-Andersen, Mathias; Jacobsson, Josefin A; Ameur, Adam et al.

Ingår i International Journal of Obesity, s. 424-431, 2013

• DOI för Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin et al.

Ingår i Human Mutation, s. 572-577, 2013

• DOI för Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Ameur, Adam; Enroth, Stefan; Johansson, Åsa; Zaboli, Ghazal et al.

Ingår i American Journal of Human Genetics, s. 809-820, 2012

• DOI för Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

Zaboli, Ghazal; Ameur, Adam; Igl, Wilmar; Johansson, Åsa et al.

Ingår i European Journal of Human Genetics, s. 77-83, 2012

• DOI för Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors

Edlund, Karolina; Larsson, Ola; Ameur, Adam; Bunikis, Ignas et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 9551-9556, 2012

• DOI för Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors

Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia

Mansouri, Larry; Gunnarsson, Rebeqa; Sutton, Lesley-Ann; Ameur, Adam et al.

Ingår i American Journal of Hematology, s. 737-740, 2012

• DOI för Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia

Ultra-deep sequencing of mouse mitochondrial DNA: Mutational patterns and their origins

Ameur, Adam; Stewart, James B.; Freyer, Christoph; Hagström, Erik et al.

Ingår i PLoS Genetics, 2011

• DOI för Ultra-deep sequencing of mouse mitochondrial DNA: Mutational patterns and their origins

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

Ameur, Adam; Zaghlool, Ammar; Halvardson, Jonatan; Wetterbom, Anna et al.

Ingår i Nature Structural & Molecular Biology, s. 1435-1440, 2011

• DOI för Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

Global and unbiased detection of splice junctions from RNA-seq data

Ameur, Adam; Wetterbom, Anna; Feuk, Lars; Gyllensten, Ulf

Ingår i Genome Biology, 2010

• DOI för Global and unbiased detection of splice junctions from RNA-seq data

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing

Wetterbom, Anna; Ameur, Adam; Feuk, Lars; Gyllensten, Ulf et al.

Ingår i Genome Biology, 2010

• DOI för Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing

Novel genes in cell cycle control and lipid metabolism with dynamically regulated binding sites for sterol regulatory element-binding protein 1 and RNA polymerase II in HepG2 cells detected by chromatin immunoprecipitation with microarray detection

Motallebipour, Mehdi; Enroth, Stefan; Punga, Tanel; Ameur, Adam et al.

Ingår i The FEBS Journal, s. 1878-1890, 2009

• DOI för Novel genes in cell cycle control and lipid metabolism with dynamically regulated binding sites for sterol regulatory element-binding protein 1 and RNA polymerase II in HepG2 cells detected by chromatin immunoprecipitation with microarray detection

Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq

Motallebipour, Mehdi; Ameur, Adam; Bysani, Madhusudhan Reddy; Patra, Kalicharan et al.

Ingår i Genome Biology, 2009

• DOI för Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq

Transcriptional profiling reveals a critical role for tyrosine phosphatase VE-PTP in regulation of VEGFR2 activity and endothelial cell morphogenesis

Mellberg, Sofie; Dimberg, Anna; Bahram, Fuad; Hayashi, Makoto et al.

Ingår i The FASEB Journal, s. 1490-1502, 2009

• DOI för Transcriptional profiling reveals a critical role for tyrosine phosphatase VE-PTP in regulation of VEGFR2 activity and endothelial cell morphogenesis

Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP

Ameur, Adam; Rada-Iglesias, Alvaro; Komorowski, Jan; Wadelius, Claes

Ingår i Nucleic Acids Research, 2009

• DOI för Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP

Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders

Rada-Iglesias, Alvaro; Ameur, Adam; Kapranov, Philipp; Enroth, Stefan et al.

Ingår i Genome Research, s. 380-392, 2008

• DOI för Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders

Combinatorial control of gene expression by the three yeast repressors Mig1, Mig2 and Mig3

Orzechowski Westholm, Jakub; Nordberg, Niklas; Murén, Eva; Ameur, Adam et al.

Ingår i BMC Genomics, s. 601, 2008

• DOI för Combinatorial control of gene expression by the three yeast repressors Mig1, Mig2 and Mig3

Endocan is a VEGF-A and PI3K regulated gene with increased expression in human renal cancer

Rennel, Emma; Mellberg, Sofie; Dimberg, Anna; Petersson, Ludvig et al.

Ingår i Experimental Cell Research, s. 1285-1294, 2007

• DOI för Endocan is a VEGF-A and PI3K regulated gene with increased expression in human renal cancer

Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes

Rada-Iglesias, Alvaro; Enroth, Stefan; Ameur, Adam; Koch, Christoph M. et al.

Ingår i Genome Research, s. 708-719, 2007

• DOI för Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Birney, Ewan; Stamatoyannopoulos, John A.; Dutta, Anindya; Guigó, Roderic et al.

Ingår i Nature, s. 799-816, 2007

• DOI för Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Single-Molecule Sequencing: Towards Clinical Applications

Ameur, Adam; Kloosterman, Wigard P.; Hestand, Matthew S.

Ingår i Trends in Biotechnology, s. 72-85, 2019

• DOI för Single-Molecule Sequencing: Towards Clinical Applications

A Bioinformatics Study of Human Transcriptional Regulation

Ameur, Adam

2008

• Ladda ner fulltext (pdf) av A Bioinformatics Study of Human Transcriptional Regulation

Splicing in the Human Brain

Zaghlool, Ammar; Ameur, Adam; Cavelier, Lucia; Feuk, Lars

Ingår i Brain Transcriptome, s. 95-125, Elsevier, 2014

• DOI för Splicing in the Human Brain

Ultra-deep targeted re-sequencing of TMEM18 in two cohorts of European children detects new genetic variants associated with obesity

Rask-Andersen, Mathias; Sällman Almén, Markus; Jacobsson, Josefin; Ameur, Adam et al.

2013