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Katta Girisha

Professor

Sultan Qaboos University

Oman

Research Interests

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Professors in Medical Science

Articles (20)

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2026

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2023

Collaborators (5)

Andrea Superti‐Furga

SWITZERLAND

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Asbjørg Stray-Pedersen

NORWAY

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Jolan E. Walter

UNITED STATES

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Stephanie Bielas

University of Michigan

UNITED STATES

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Vivekananda Bhat

Assistant Professor

Kasturba Medical College, Manipal

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Katta Girisha

Research Interests

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Articles (20)

Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia‐Lymphedema Syndrome 2

EXOC6B promotes cilial elongation via autophagy-dependent protein turnover

Impaired SERPINF1 Expression due to c.[‐37C>A];[829_831del] Causes Osteogenesis Imperfecta VI

The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency — a Comparative Analysis

Syndrome of the Month: ARSK‐Related Mucopolysaccharidosis Type 10

Biallelic Variant, c.644‐13_644‐9del in UNC50 Is Associated With Congenital Myasthenia Syndrome

Bi‐Allelic Splicing Variant, c.153‐2A > C in TOMM7 Is Associated With Leigh Syndrome

Genomic testing in Low- and Middle-Income Countries (LMIC)

Overcoming barriers to equitable genomic healthcare

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia

PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient

Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy

Nosology of genetic skeletal disorders: 2023 revision

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7

A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies

Collaborators (5)

Andrea Superti‐Furga

Asbjørg Stray-Pedersen

Jolan E. Walter

Stephanie Bielas

Vivekananda Bhat

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