K. Neethukrishna

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

A. Nordgren, P. Shannon, D. Chitayat, 2017, Scientific Reports.

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

K. Girisha, A. Shukla, P. Kaur, 2019, American journal of medical genetics. Part A.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

O. Mäkitie, Dongsup Kim, G. Stewart, 2019, American journal of human genetics.

University of Birmingham Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

O. Mäkitie, Dongsup Kim, G. Stewart, 2019 .

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.

K. Girisha, A. Shukla, S. Bielas, 2017, European journal of medical genetics.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

G. Mortier, K. Girisha, A. Shukla, 2018, Human mutation.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

K. Girisha, A. Shukla, S. Nampoothiri, 2023, European journal of human genetics : EJHG.