Ambrin Fatima

Employment

• Aga Khan University Assistant Professor
  2021 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (33)

• Genetic association of vitamin D receptor gene with female infertility.
  Nucleosides, nucleotides & nucleic acids 2023 DOI: 10.1080/15257770.2023.2236167
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• Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
  Genes 2023 DOI: 10.3390/genes14071404
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• A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
  Clinical genetics 2023 DOI: 10.1111/cge.14386
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• Prioritization of The Zinc finger domain within BCL11A gene by the Amelioration capability of hemoglobinopathies using CRISPR-Cas9 technology
  2023 DOI: 10.1101/2023.11.28.568974
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• ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
  Frontiers in molecular neuroscience 2022 DOI: 10.3389/fnmol.2022.988993
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• A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family.
  Genes 2022 DOI: 10.3390/genes13091667
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• The SARS-CoV-2 differential genomic adaptation in response to varying UVindex reveals potential genomic resources for better COVID-19 diagnosis and prevention.
  Frontiers in microbiology 2022 DOI: 10.3389/fmicb.2022.922393
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• MCPH1: A Novel Case Report and a Review of the Literature.
  Genes 2022 DOI: 10.3390/genes13040634
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• Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
  American journal of human genetics 2022 DOI: 10.1016/j.ajhg.2022.02.007
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• Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.
  Genes 2021 DOI: 10.3390/genes12121899
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