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Niklas Dahl

Science for Life Laboratory

118

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Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors

2021 Stem Cell Research
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Mono-allelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

2021 American Journal of Human Genetics
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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.

2021 Stem Cell Research
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

2020 Clinical Genetics
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Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9.

2020 Stem Cell Research
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Aniridia with PAX6 mutations and narcolepsy

2020 Journal of Sleep Research
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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

2020 Stem Cell Research
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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

2020 International Journal of Hematology
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Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

2020 Stem Cell Research
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

2020 Brain
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