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Page 1
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, Roy AG, Radhakrishnan P, Alawi M, Rhodes L, Girisha KM, Kang PB, Kutsche K. Holling T, et al. Among authors: girisha km. Eur J Hum Genet. 2022 Apr;30(4):439-449. doi: 10.1038/s41431-021-01033-2. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35013551 Free PMC article.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G. Schnabel F, et al. Among authors: girisha km. Hum Genet. 2023 Apr;142(4):543-552. doi: 10.1007/s00439-023-02528-2. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943452 Free PMC article.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Among authors: girisha km. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. Eur J Hum Genet. 2024. PMID: 38114583 Free PMC article.
Overcoming barriers to equitable genomic healthcare.
Girisha KM. Girisha KM. Eur J Hum Genet. 2024 Oct;32(10):1202-1203. doi: 10.1038/s41431-024-01557-3. Epub 2024 Feb 13. Eur J Hum Genet. 2024. PMID: 38351294 No abstract available.
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.
Singh S, Danda S, Sharma N, Shah H, Madhuri V, Mir TA, Padala NZ, Medishetti R, Ekbote A, Bhavani GS, Sevilimedu A, Girisha KM. Singh S, et al. Among authors: girisha km. Eur J Hum Genet. 2025 Jan;33(1):30-37. doi: 10.1038/s41431-024-01725-5. Epub 2024 Nov 6. Eur J Hum Genet. 2025. PMID: 39506047 Free PMC article.
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM. Jacob P, et al. Among authors: girisha km. Eur J Hum Genet. 2024 Dec 20. doi: 10.1038/s41431-024-01776-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39706863
286 results