Maria Sobol

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

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Sobol, Maria; Aravidis, Christos; Hessel, Hugo; Lindqvist, Anna et al.

Ingår i European Journal of Obstetrics, Gynecology, and Reproductive Biology, s. 370-374, 2024

• DOI för Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13
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Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Ingår i Stem Cell Research, 2024

• DOI för Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
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Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Schuster, Jens; de Guidi, Claudia; Fatima, Ambrin; Sobol, Maria et al.

Ingår i Stem Cell Research, 2021

• DOI för Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
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DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

Ingår i Clinical Epigenetics, 2020

• DOI för DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
• Ladda ner fulltext (pdf) av DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

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

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Sobol, Maria; Aravidis, Christos; Hessel, Hugo; Lindqvist, Anna et al.

Ingår i European Journal of Obstetrics, Gynecology, and Reproductive Biology, s. 370-374, 2024

• DOI för Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13
• Ladda ner fulltext (pdf) av Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Ingår i Stem Cell Research, 2024

• DOI för Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
• Ladda ner fulltext (pdf) av Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Schuster, Jens; de Guidi, Claudia; Fatima, Ambrin; Sobol, Maria et al.

Ingår i Stem Cell Research, 2021

• DOI för Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
• Ladda ner fulltext (pdf) av Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

Ingår i Clinical Epigenetics, 2020

• DOI för DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
• Ladda ner fulltext (pdf) av DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

Schuster, Jens; Hoeber, Jan; Sobol, Maria; Fatima, Ambrin et al.

Ingår i Stem Cell Research, 2020

• DOI för Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

Proximal Deletion 12q with a New Insight to Growth Retardation

Sobol, Maria; Thuresson, Ann-Charlotte; Palmberg, Nathalie; Zander, Cecilia Soussi

Ingår i Molecular Syndromology, s. 115-124, 2020

• DOI för Proximal Deletion 12q with a New Insight to Growth Retardation
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Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9

Fatima, Ambrin; Schuster, Jens; Akram, Talia; Gonzalez, Carolina Maya et al.

Ingår i Stem Cell Research, 2020

• DOI för Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
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Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

Fatima, Ambrin; Schuster, Jens; Akram, Talia; Sobol, Maria et al.

Ingår i Stem Cell Research, 2020

• DOI för Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9
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Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Schuster, Jens; Sobol, Maria; Fatima, Ambrin; Khalfallah, Ayda et al.

Ingår i Stem Cell Research, 2019

• DOI för Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
• Ladda ner fulltext (pdf) av Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Schuster, Jens; Fatima, Ambrin; Sobol, Maria; Noraddin, Feria Hikmet et al.

Ingår i Stem Cell Research, 2019

• DOI för Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
• Ladda ner fulltext (pdf) av Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Schuster, Jens; Laan, Loora; Klar, Joakim; Jin, Zhe et al.

Ingår i Neurobiology of Disease, 2019

• DOI för Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Sobol, Maria; Klar, Joakim; Laan, Loora; Shahsavani, Mansoureh et al.

Ingår i Molecular Neurobiology, s. 7113-7127, 2019

• DOI för Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
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Delineation of the critical region for proximal deletion of chromosome 12q

Sobol, Maria; Thuresson, Ann-Charlotte

Ingår i Molecular Cytogenetics, 2017

Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture

Pijuan-Galito, Sara; Tamm, Christoffer; Schuster, Jens; Sobol, Maria et al.

Ingår i Nature Communications, 2016

• DOI för Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture
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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

Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage

Sobol, Maria; Raykova, Doroteya; Cavelier, Lucia; Khalfallah, Ayda et al.

Ingår i Stem Cells and Development, s. 2032-2040, 2015

• DOI för Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage

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.

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Sobol, Maria; Dahl, Niklas; Klar, Joakim

Ingår i BMC Research Notes, s. 90, 2011

• DOI för FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Fröjmark, Anne-Sophie; Schuster, Jens; Sobol, Maria; Entesarian, Miriam et al.

Ingår i American Journal of Human Genetics, s. 852-860, 2011

• DOI för Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia