Inderneel Sahai to Mutation
This is a "connection" page, showing publications Inderneel Sahai has written about Mutation.
Connection Strength
0.200
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Gaier ED, Sahai I, Wiggs JL, McGeeney B, Hoffman J, Peeler CE. Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. Ophthalmic Genet. 2019 12; 40(6):570-573.
Score: 0.088
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Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, Casey R, Fabris L, Hexner E, Mathews L, Ribeiro ML, Wierenga KJ, Neufeld EJ. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. J Pediatr. 2009 Dec; 155(6):888-892.e1.
Score: 0.043
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Torene RI, Guillen Sacoto MJ, Millan F, Zhang Z, McGee S, Oetjens M, Heise E, Chong K, Sidlow R, O'Grady L, Sahai I, Martin CL, Ledbetter DH, Myers SM, Mitchell KJ, Retterer K. Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases. Am J Hum Genet. 2024 01 04; 111(1):70-81.
Score: 0.029
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Lucas AT, Lin AE, Cohen A, Mu?oz W, Kahle KT, Shin JH, Buch K, Sahai I, Carroll RW. Atlantoaxial instability associated with ALDH18A1 mutation. Am J Med Genet A. 2023 12; 191(12):2898-2902.
Score: 0.028
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Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
Score: 0.011