A. Moawia

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

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

On the differential diagnosis of neuropathy in neurogenetic disorders

A. Koy, S. Çırak, U. Yiş, 2020, Medizinische Genetik.

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

A. Koy, S. Çırak, S. Shafiee, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Whole exome sequencing identifies a novel variant causing Cockayne syndrome Type I in a consanguineous Pakistani family.

M. Tariq, A. Moawia, S. Waseem, 2022, The International journal of neuroscience.

Click functionalized biocompatible gadolinium oxide core-shell nanocarriers for imaging of breast cancer cells

S. Mathur, M. Valldor, S. Ilyas, 2022, RSC advances.

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A. Noegel, S. Baig, G. Nürnberg, 2016, Human Genetics.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Thomas M. Kitzler, S. Mane, F. Alkuraya, 2018, The Journal of clinical investigation.

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

A. Noegel, S. Baig, P. Nürnberg, 2020, Molecular genetics & genomic medicine.

Genetic heterogeneity in Pakistani microcephaly families revisited

G. Nürnberg, P. Nürnberg, J. Altmüller, 2017, Clinical genetics.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

S. Baig, P. Nürnberg, J. Altmüller, 2021, Genes.

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

S. Baig, R. Raininko, N. Dahl, 2014, BMC Medical Genetics.