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Ambrin Fatima

Science for Life Laboratory

11

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

2020 Stem Cell 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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Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

2019 Stem Cell Research
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Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

2019 Stem Cell Research
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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

2019 Stem Cell Research
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DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

2019 Clinical Epigenetics
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Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi‐allelic skipping of RTTN exon 42

2019 Human Mutation
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