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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Yap ZY, et al. Among authors: gannavarapu s. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. Am J Hum Genet. 2021. PMID: 34800363 Free PMC article.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA. Gannavarapu S, et al. Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31. Mol Genet Metab. 2015. PMID: 26361991
Psychosocial impact on mothers receiving expanded newborn screening results.
O'Connor K, Jukes T, Goobie S, DiRaimo J, Moran G, Potter BK, Chakraborty P, Rupar CA, Gannavarapu S, Prasad C. O'Connor K, et al. Among authors: gannavarapu s. Eur J Hum Genet. 2018 Apr;26(4):477-484. doi: 10.1038/s41431-017-0069-z. Epub 2018 Jan 29. Eur J Hum Genet. 2018. PMID: 29379194 Free PMC article.
Development of miRNA-SSR and target-SSR markers from yield-associate genes and their applicability in the assessment of genetic diversity and association mapping in rice (Oryza sativa L.).
Hemasai B, Kumbha DK, Modem VN, Gannavarapu SK, Bommaka RR, Mallapuram S, Chintala S, Sreevalli MD, Ramireddy E, Vemireddy LR. Hemasai B, et al. Among authors: gannavarapu sk. Mol Breed. 2024 Apr 15;44(4):30. doi: 10.1007/s11032-024-01462-z. eCollection 2024 Apr. Mol Breed. 2024. PMID: 38634111