Girisha, Katta Mohan

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., et al. (2018) · Nature

Wnt/β-catenin signaling in development and cancerCongenital limb and hand anomalies

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Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

Simsek Kiper, P. O., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K., Kiviranta, R., Solban, N., Liu, J., Brommage, R., et al. (2016) · New England Journal of Medicine

Bone health and osteoporosis researchBone Metabolism and Diseases

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Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis

Delle Vedove, A., Storbeck, M., Heller, R., Hölker, I., Hebbar, M., Shukla, A., Magnusson, O., Cirak, S., Girisha, K. M., O’Driscoll, M., et al. (2016) · The American Journal of Human Genetics

Hereditary Neurological DisordersMuscle Physiology and Disorders

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Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Somashekar, P. H., Kaur, P., Stephen, J., Guleria, V. S., Kadavigere, R., Girisha, K. M., Bielas, S., Upadhyai, P., & Shukla, A. (2021) · Clinical Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

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Turner syndrome in diverse populations

Kruszka, P., Addissie, Y. A., Tekendo‐Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Aravena, T., et al. (2020) · American Journal of Medical Genetics Part A

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

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Germline missense variants in FBXW11 differentially affect its subcellular localization and protein interactome

Tibbe, D., Volbracht, R. J., Biabani, A., Siebels, B., Schneeberger, P. E., Alawi, M., Shenoy, R. D., Shetty, V., Girisha, K. M., & Kutsche, K. (2026) · Scientific Reports

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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