Lars Feuk

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

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

Part of Bioinformatics, 2026

• DOI for Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
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Flexible and rapid validation of structural variation using adaptive sampling

Paivandy, Aida; Lenner, Felix; Eisfeldt, Jesper; Jonson, Tord et al.

Part of European Journal of Human Genetics, p. 649-657, 2026

• DOI for Flexible and rapid validation of structural variation using adaptive sampling
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Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder

Verrecchia, Luca; Alm, Victor; Thonberg, Håkan; Lenner, Felix et al.

Part of Neurology Genetics, 2025

• DOI for Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder
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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.

Part of Genome Research, p. 1774-1784, 2024

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

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.

Part of Scientific Reports, 2024

• DOI for Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
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Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

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

Part of Bioinformatics, 2026

• DOI for Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
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Flexible and rapid validation of structural variation using adaptive sampling

Paivandy, Aida; Lenner, Felix; Eisfeldt, Jesper; Jonson, Tord et al.

Part of European Journal of Human Genetics, p. 649-657, 2026

• DOI for Flexible and rapid validation of structural variation using adaptive sampling
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Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder

Verrecchia, Luca; Alm, Victor; Thonberg, Håkan; Lenner, Felix et al.

Part of Neurology Genetics, 2025

• DOI for Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder
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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.

Part of Genome Research, p. 1774-1784, 2024

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

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.

Part of Scientific Reports, 2024

• DOI for Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
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Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

Eisfeldt, Jesper; Higginbotham, Edward J.; Lenner, Felix; Howe, Jennifer et al.

Part of Genome Research, p. 1763-1773, 2024

• DOI for Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
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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.

Part of Life Science Alliance, 2024

• DOI for A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
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From SARS-CoV-2 to Global Preparedness: A Graphical Interface for Standardised High-Throughput Bioinformatics Analysis in Pandemic Scenarios and Surveillance of Drug Resistance

Cumlin, Tomas; Karlsson, Ida; Haars, Jonathan; Rosengren, Maria et al.

Part of International Journal of Molecular Sciences, 2024

• DOI for From SARS-CoV-2 to Global Preparedness: A Graphical Interface for Standardised High-Throughput Bioinformatics Analysis in Pandemic Scenarios and Surveillance of Drug Resistance
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Long-read whole-genome analysis of human single cells

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

Part of Nature Communications, 2023

• DOI for Long-read whole-genome analysis of human single cells
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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.

Part of BMC Research Notes, 2023

• DOI for Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH
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Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

Eisfeldt, Jesper; Schuy, Jakob; Stattin, Eva-Lena; Kvarnung, Malin et al.

Part of International Journal of Molecular Sciences, 2022

• DOI for Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
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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.

Part of Nature Communications, 2022

• DOI for CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
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DLG4-related synaptopathy: a new rare brain disorder

Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A. et al.

Part of Genetics in Medicine, p. 888-899, 2021

• DOI for DLG4-related synaptopathy: a new rare brain disorder

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

Eisfeldt, Jesper; Pettersson, Maria; Petri, Anna; Nilsson, Daniel et al.

Part of Human Genetics, p. 775-790, 2021

• DOI for Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
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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.

Part of Scientific Reports, 2021

• DOI for Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts
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Transcriptome analysis of post-mortem brain tissue reveals up-regulation of the complement cascade in a subgroup of schizophrenia patients

Lindholm Carlström, Eva; Niazi, Adnan; Etemadikhah, Mitra; Halvardson, Jonatan et al.

Part of Genes, 2021

• DOI for Transcriptome analysis of post-mortem brain tissue reveals up-regulation of the complement cascade in a subgroup of schizophrenia patients
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R.ROSETTA: an interpretable machine learning framework

Garbulowski, Mateusz; Diamanti, Klev; Smolinska, Karolina; Baltzer, Nicholas et al.

Part of BMC Bioinformatics, 2021

• DOI for R.ROSETTA: an interpretable machine learning framework
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Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder

Garbulowski, Mateusz; Smolinska Garbulowska, Karolina; Diamanti, Klev; Pan, Gang et al.

Part of Frontiers in Genetics, 2021

• DOI for Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder
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Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder

Ramos, Jillian; Proven, Melissa; Halvardson, Jonatan; Hagelskamp, Felix et al.

Part of RNA, p. 1654-1666, 2020

• DOI for Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
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Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

Klar, Joakim; Engstrand-Lilja, Helene; Maqbool, Khurram; Mattisson, Jonas et al.

Part of BMC Medical Genomics, 2020

• DOI for Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

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

Part of Genome Biology, 2020

• DOI for Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
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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.

Part of Genes, 2020

• DOI for Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes
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Exploring autoantibody signatures in brain tissue from patients with severe mental illness

Just, David; Manberg, Anna; Mitsios, Nicholas; Stockmeier, Craig A. et al.

Part of Translational Psychiatry, 2020

• DOI for Exploring autoantibody signatures in brain tissue from patients with severe mental illness
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Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes

Etemadikhah, Mitra; Niazi, Adnan; Wetterberg, Lennart; Feuk, Lars

Part of Scientific Reports, 2020

• DOI for Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

Part of Clinical Genetics, p. 436-439, 2019

• DOI for Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
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Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

Lindholm Carlström, Eva; Halvardson, Jonatan; Etemadikhah, Mitra; Wetterberg, Lennart et al.

Part of BMC Medical Genomics, 2019

• DOI for Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family
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Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development

Johansson, Martin M.; Pottmeier, Philipp; Suciu, Pascalina; Ahmed, Tauseef et al.

Part of Frontiers in Genetics, 2019

• DOI for Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development
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Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR.

Shebanits, Kateryna; Günther, Torsten; Johansson, Anna C. V.; Maqbool, Khurram et al.

Part of BMC Biotechnology, 2019

• DOI for Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR.
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Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods

Moghadam, Behrooz Torabi; Etemadikhah, Mitra; Rajkowska, Grazyna; Stocluneier, Craig et al.

Part of Journal of Psychiatric Research, p. 41-47, 2019

• DOI for Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods

Expression profiling and in situ screening of circular RNAs in human tissues

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

Part of Scientific Reports, 2018

• DOI for Expression profiling and in situ screening of circular RNAs in human tissues
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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.

Part of Human Mutation, p. 1262-1272, 2018

• DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference

Shebanits, Kateryna; Andersson-Assarsson, Johanna C.; Larsson, Ingrid; Carlsson, Lena M. S. et al.

Part of PLOS ONE, 2018

• DOI for Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference
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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.

Part of Genes, 2018

• DOI for 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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Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Part of American Journal of Medical Genetics Part B, p. 10-20, 2018

• DOI for Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)

Kuderna, Lukas F. K.; Tomlinson, Chad; Hillier, LaDeana W.; Tran, Annabel et al.

Part of GigaScience, p. 1-6, 2017

• DOI for A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

Zhao, Jin James; Halvardson, Jonatan; Knaus, Alexej; Georgii-Hemming, Patrik et al.

Part of Human Mutation, p. 1394-1401, 2017

• DOI for Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
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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.

Part of European Journal of Human Genetics, p. 1253-1260, 2017

• DOI for SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
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Mutations in HECW2 are associated with intellectual disability and epilepsy

Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

Part of Journal of Medical Genetics, p. 697-704, 2016

• DOI for Mutations in HECW2 are associated with intellectual disability and epilepsy
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Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

Johansson, Martin; Lundin, Elin; Qian, Xiaoyan; Mirzazadeh, Mohammadreza et al.

Part of Biology of Sex Differences, 2016

• DOI for Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development
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One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins

Magnusson, Patrik K. E.; Lee, Donghwan; Chen, Xu; Szatkiewicz, Jin et al.

Part of Twin Research and Human Genetics, p. 97-103, 2016

• DOI for One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment

Zaghlool, Ammar; Halvardson, Jonatan; Zhao, Jin J.; Etemadikhah, Mitra et al.

Part of Human Mutation, p. 964-975, 2016

• DOI for A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment
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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.

Part of Cellular Reprogramming, p. 327-337, 2015

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

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Spiegel, Ronen; Saada, Ann; Halvardson, Jonatan; Soiferman, Devorah et al.

Part of European Journal of Human Genetics, p. 902-906, 2014

• DOI for Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Abolished InsP₃R2 function inhibits sweat secretion in both humans and mice

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

Part of Journal of Clinical Investigation, p. 4773-4780, 2014

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

The Database of Genomic Variants: a curated collection of structural variation in the human genome

MacDonald, Jeffrey R.; Ziman, Robert; Yuen, Ryan K. C.; Feuk, Lars et al.

Part of Nucleic Acids Research, 2014

• DOI for The Database of Genomic Variants: a curated collection of structural variation in the human genome

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.

Part of BMC Biotechnology, p. 99, 2013

• DOI for Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues
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Genome-wide Association Study of Susceptibility Loci for Cervical Cancer

Chen, Dan; Juko-Pecirep, Ivana; Hammer, Joanna; Ivansson, Emma et al.

Part of Journal of the National Cancer Institute, p. 624-633, 2013

• DOI for Genome-wide Association Study of Susceptibility Loci for Cervical Cancer

Exome RNA sequencing reveals rare and novel alternative transcripts

Halvardson, Jonatan; Zaghlool, Ammar; Feuk, Lars

Part of Nucleic Acids Research, 2013

• DOI for Exome RNA sequencing reveals rare and novel alternative transcripts

Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

Pang, Andy Wing Chun; Migita, Ohsuke; MacDonald, Jeffrey R.; Feuk, Lars et al.

Part of Human Mutation, p. 345-354, 2013

• DOI for Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

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.

Part of Human Mutation, p. 572-577, 2013

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

RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes

Radomska, Katarzyna J.; Halvardson, Jonatan; Reinius, Björn; Carlström, Eva Lindholm et al.

Part of Human Molecular Genetics, p. 1373-1382, 2013

• DOI for RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Hooper, Sean D.; Johansson, Anna C. V.; Tellgren-Roth, Christian; Stattin, Eva-Lena et al.

Part of BMC Medical Genetics, p. 123, 2012

• DOI for Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
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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.

Part of American Journal of Human Genetics, p. 809-820, 2012

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

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

Berger, Itai; Dor, Talya; Halvardson, Jonatan; Edvardson, Simon et al.

Part of Epilepsia, p. 1436-1440, 2012

• DOI for Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources

de Leeuw, Nicole; Dijkhuizen, Trijnie; Hehir-Kwa, Jayne Y.; Carter, Nigel P. et al.

Part of Human Mutation, p. 930-940, 2012

• DOI for Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

Spiegel, Konen; Pines, Ophry; Ta-Shma, Asaf; Burak, Efrat et al.

Part of American Journal of Human Genetics, p. 518-523, 2012

• DOI for Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Pinto, Dalila; Darvishi, Katayoon; Shi, Xinghua; Rajan, Diana et al.

Part of Nature Biotechnology, p. 512-521, 2011

• DOI for Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Characterization of Copy Number-Stable Regions in the Human Genome

Johansson, Anna C. V.; Feuk, Lars

Part of Human Mutation, p. 947-955, 2011

• DOI for Characterization of Copy Number-Stable Regions in the Human Genome

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.

Part of Nature Structural & Molecular Biology, p. 1435-1440, 2011

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

Inversion variants in the human genome: role in disease and genome architecture

Feuk, Lars

Part of Genome Medicine, 2010

• DOI for Inversion variants in the human genome: role in disease and genome architecture
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Public data archives for genomic structural variation

Church, Deanna M.; Lappalainen, Ilkka; Sneddon, Tam P.; Hinton, Jonathan et al.

Part of Nature Genetics, p. 813-814, 2010

• DOI for Public data archives for genomic structural variation

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Craddock, Nick; Hurles, Matthew E.; Cardin, Niall; Pearson, Richard D. et al.

Part of Nature, p. 713-720, 2010

• DOI for Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

Rafiq, M. A.; Ansar, M.; Marshall, C. R.; Noor, A. et al.

Part of Clinical Genetics, p. 478-483, 2010

• DOI for Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, David T.; Adam, Margaret P.; Aradhya, Swaroop; Biesecker, Leslie G. et al.

Part of American Journal of Human Genetics, p. 749-764, 2010

• DOI for Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Origins and functional impact of copy number variation in the human genome

Conrad, Donald F.; Pinto, Dalila; Redon, Richard; Feuk, Lars et al.

Part of Nature, p. 704-712, 2010

• DOI for Origins and functional impact of copy number variation in the human genome

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

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

Part of Genome Biology, 2010

• DOI for 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.

Part of Genome Biology, 2010

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

Towards a comprehensive structural variation map of an individual human genome

Pang, Andy W.; MacDonald, Jeffrey R.; Pinto, Dalila; Wei, John et al.

Part of Genome biology, 2010

• DOI for Towards a comprehensive structural variation map of an individual human genome

Prepublication data sharing

Birney, Ewan; Hudson, Thomas J.; Green, Eric D.; Gunter, Chris et al.

Part of Nature, p. 168-170, 2009

• DOI for Prepublication data sharing

Splicing in the Human Brain

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

Part of Brain Transcriptome, p. 95-125, Elsevier, 2014

• DOI for Splicing in the Human Brain

Mutation in the chromatin-remodeling factor BAZ1A is associated with intellectual disability

Zaghlool, Ammar; Halvardson, Jonatan; Zhao, Jin; Kalushkova, Antonia et al.