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Page 1
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Harms FL, et al. Among authors: nampoothiri s. Eur J Hum Genet. 2024 May;32(5):558-566. doi: 10.1038/s41431-024-01563-5. Epub 2024 Feb 19. Eur J Hum Genet. 2024. PMID: 38374468 Free PMC article.
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.
Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS. Harms FL, et al. Among authors: nampoothiri s. Am J Med Genet A. 2018 Feb;176(2):477-482. doi: 10.1002/ajmg.a.38568. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271567
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.
Yesodharan D, Büschenfelde UMZ, Kutsche K, Mohandas Nair K, Nampoothiri S. Yesodharan D, et al. Among authors: nampoothiri s. Indian J Pediatr. 2018 Dec;85(12):1067-1072. doi: 10.1007/s12098-018-2632-1. Epub 2018 Jan 31. Indian J Pediatr. 2018. PMID: 29383603
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K. Harms FL, et al. Among authors: nampoothiri s. Hum Mutat. 2020 Sep;41(9):1645-1661. doi: 10.1002/humu.24071. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32623794
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM. Salian S, et al. Among authors: nampoothiri s. Hum Genet. 2021 Jun;140(6):879-884. doi: 10.1007/s00439-020-02251-2. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33386993
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: nampoothiri s. 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.
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Riley LG, Sabui S, Said HM, Niaz A, Girisha KM, Radhakrishnan P, Nampoothiri S, Yesodharan D, Kilo T, Smith J, Wong RSH, Menezes MP, Gupta S, Cooper ST, Balasubramaniam S. Riley LG, et al. Among authors: nampoothiri s. Eur J Hum Genet. 2024 Aug;32(8):947-953. doi: 10.1038/s41431-024-01641-8. Epub 2024 May 30. Eur J Hum Genet. 2024. PMID: 38816490
202 results