A. Fatima

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.

K. Lohmann, G. Nürnberg, P. Nürnberg, 2013, JAMA neurology.

Mutations in CLDN14 are associated with different hearing thresholds

S. Naz, R. Bashir, A. Fatima, 2010, Journal of Human Genetics.

Amplification of GC-rich DNA for High-Throughput Family-Based Genetic Studies

S. Naz, A. Fatima, Amara Fatima, 2013, Molecular Biotechnology.

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.

S. Naz, R. Bashir, A. Fatima, 2012, European journal of medical genetics.

Genetic causes of moderate to severe hearing loss point to modifiers

T. Friedman, C. Brewer, G. Mujtaba, 2017, Clinical genetics.

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

K. Lohmann, A. Ramírez, A. Rolfs, 2011, Movement disorders : official journal of the Movement Disorder Society.

A novel homozygous KY variant causing a complex neurological disorder.

K. Lohmann, Elizabeth S Wohler, K. Kumar, 2020, European journal of medical genetics.

The c.42_52del11 Mutation in TPRN and Progressive Hearing Loss in a Family from Pakistan

S. Naz, A. Imtiaz, R. Bashir, 2013, Biochemical Genetics.

A p.C343S missense mutation in PJVK causes progressive hearing loss.

G. Mujtaba, S. Naz, Ihtisham Bukhari, 2012, Gene.