A. Fatima

发表

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

F. Alkuraya, A. Noegel, S. Baig, 2017, Annals of neurology.

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

N. Tommerup, Tanveer Mustafa, M. Tariq, 2017, Psychiatry investigation.

MCPH1: A Novel Case Report and a Review of the Literature

L. Larsen, L. Garavelli, M. Pollazzon, 2022, Genes.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

S. Baig, P. Nürnberg, S. Tinschert, 2021, Genes.

Minocycline, a possible neuroprotective agent in Leber’s hereditary optic neuropathy (LHON): Studies of cybrid cells bearing 11778 mutation

E. Kirches, A. Fatima, Anne Gieseler, 2007, Neurobiology of Disease.

The SARS-CoV-2 differential genomic adaptation in response to varying UVindex reveals potential genomic resources for better COVID-19 diagnosis and prevention

M. Jamal, F. Nawaz, S. Mansoor, 2022, Frontiers in Microbiology.

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

S. Baig, N. Dahl, J. Schuster, 2020, International Journal of Hematology.

Urocortin 1 administered into the hypothalamic supraoptic nucleus inhibits food intake in freely fed and food-deprived rats

M. Engelmann, S. Andrabi, A. Fatima, 2013, Amino Acids.

Reduced urocortin 1 immunoreactivity in the non-preganglionic Edinger–Westphal nucleus during late pregnancy in rats

M. Engelmann, A. Fatima, G. Wolf, 2007, Regulatory Peptides.

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

M. Huss, A. Nordgren, B. Birnir, 2022, Frontiers in Molecular Neuroscience.

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family

Z. Iqbal, M. Toft, A. Fatima, 2022, Genes.

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

N. Dahl, J. Schuster, M. Sobol, 2020, Stem Cell Research.

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

N. Dahl, J. Schuster, M. Sobol, 2021, Stem cell research.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

A. Noegel, P. Frommolt, S. Baig, 2013, Human molecular genetics.

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

G. Annéren, N. Dahl, M. Shahsavani, 2020, Clinical Epigenetics.

Polymorphic Status of PRKAA2 Gene in Pakistani Buffaloes

A. Awan, T. Hussain, M. Babar, 2016 .

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

S. Baig, S. Milatz, J. Piontek, 2017, PLoS genetics.

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

B. Birnir, N. Matsumoto, S. Baig, 2021, American journal of human genetics.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

S. Baig, R. Raininko, N. Dahl, 2016, Journal of the Neurological Sciences.

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.

A. Nordgren, B. Anderlid, N. Dahl, 2019, Stem cell research.

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

G. Annéren, N. Dahl, J. Schuster, 2020, Stem cell research.

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

N. Tommerup, H. Eiberg, L. Larsen, 2020, Nature Communications.

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

N. Dahl, J. Schuster, M. Sobol, 2019, Stem cell research.

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

N. Tommerup, Y. Mang, Mana M Mehrjouy, 2021, Genes.

RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption

N. Tommerup, H. Eiberg, L. Larsen, 2019, bioRxiv.

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

N. Tommerup, L. Larsen, Y. Mang, 2015, Journal of Human Genetics.

Urocortin 1 administered into the hypothalamic supraoptic nucleus inhibits food intake in freely fed and food-deprived rats

M. Engelmann, S. Andrabi, A. Fatima, 2013, Amino Acids.

Urocortin 1 administered into the hypothalamic supraoptic nucleus affects open-field behaviour in rats

M. Engelmann, A. Fatima, G. Wolf, 2010, Amino Acids.

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Sijie He, Jianguo Zhang, S. Baig, 2019, Journal of Clinical Neuroscience.

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

N. Dahl, J. Schuster, J. Klar, 2019, Stem cell research.

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Hai Yan, S. Baig, F. Zhao, 2018, Familial Cancer.

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

N. Tommerup, L. Larsen, Y. Mang, 2017, European journal of medical genetics.

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

M. Toft, S. Efthymiou, H. Houlden, 2023, Genes.

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

S. Baig, N. Dahl, J. Wikström, 2019, Human mutation.

Desiring Enemy: An Ontological Reading of the Military Operations and Small Wars on the North West Frontier

A. Fatima, Lubna Abid Ali, M. Jan, 2014 .

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability

M. Toft, M. Tariq, A. Fatima, 2023, Clinical genetics.

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

N. Tommerup, S. Baig, Y. Sarwar, 2017, Nephrology.