Niklas Dahl’ - Genetic Mutations

Author Information

Niklas Dahl is affiliated with Uppsala University, Department of Immunology, Genetics and Pathology, and Science for Life Laboratory, Uppsala, Sweden. He has contributed significantly to the field of genetics, particularly in the areas of neurodevelopmental disorders, hematologic conditions, and advanced genetic analysis techniques.

Research Contributions

Niklas Dahl has an extensive research portfolio that encompasses various aspects of genetics. Notable works include the identification of genetic variants in neurodevelopmental delay, intellectual disability, and epilepsy, as well as the characterization of GATA-1 defects in Diamond–Blackfan Anemia. He has also contributed to generating human induced pluripotent stem cell lines for the study of syndromic RNA polymerase II insufficiency and Dravet syndrome. His research utilizes advanced techniques such as whole exome sequencing and single-cell mRNA analysis, reflecting his commitment to understanding genetic disorders at a detailed molecular level.

Aliases

Niklas Dahl is also known by several aliases including N Dahl, N. Dahl, and Niklas Dahl’.

Publication and Citation Metrics

Metric	Value
Citation Count	12,589
h-index	53
Paper Count	303

Publications:

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

DOI: 10.1016/j.ajhg.2022.02.007

Year: 2022

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.

DOI: 10.1016/j.scr.2022.102712

Year: 2022

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

DOI: 10.3390/genes13030447

Year: 2022

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

DOI: 10.1016/j.jocn.2021.09.027

Year: 2021

A combined approach for single-cell mRNA and intracellular protein expression analysis

DOI: 10.1038/s42003-021-02142-w

Year: 2021

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

DOI: 10.1016/j.scr.2021.102577

Year: 2021

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

DOI: 10.1016/j.ajhg.2021.02.015

Year: 2021

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

DOI: 10.3389/fgene.2021.803683

Year: 2021

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

DOI:

Year: 2020

Aniridia with PAX6 mutations and narcolepsy

DOI: 10.1111/jsr.12982

Year: 2020

Why is Long-Read Sequencing Important for Genetic Mutations?

How is HbS Diagnosed?

How are Mutations Detected?

What Measures Can Be Taken to Mitigate the Risks?

How Do Genetic Mutations Affect Immunotherapy?

What Research is Being Conducted?

How is Cystic Fibrosis Diagnosed?

How Do Environmental Mutations Affect Health?

What are the advantages of using ZFNs?

Which Genes Are Commonly Involved?

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