Inderneel Sahai to Retrospective Studies
This is a "connection" page, showing publications Inderneel Sahai has written about Retrospective Studies.
Connection Strength
0.139
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Roesch S, O'Sullivan A, Tschani S, Baghdasaryan A, Balasubramaniam S, Baric I, de Boer L, Gr?nert SC, Guzek A, Janssen M, Krumina Z, Koenig MK, Lewkowitz AM, Mochel F, Naldi AM, Plecko B, ?zt?rk K, O'Grady L, Riordan G, Rymen D, Sahai I, Santer R, Schiff M, Stettner GM, Tsiakas K, U?ar SK, Uzun ??, Weigel C, Witters P, Merkevicius K, Mayr JA, Wortmann SB, Iwanicka-Pronicka K. Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study. Mol Genet Metab. 2025 Sep-Oct; 146(1-2):109193.
Score: 0.025
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Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. Am J Med Genet A. 2025 Apr; 197(4):e63940.
Score: 0.024
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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: 0.022
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Ramirez Alcantara J, Grant NR, Sethuram S, Nagy A, Becker C, Sahai I, Stanley T, Halper A, Eichler FS. Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy. J Clin Endocrinol Metab. 2023 10 18; 108(11):e1306-e1315.
Score: 0.022
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Stergachis AB, Mogensen KM, Khoury CC, Lin AP, Peake RW, Baker JJ, Barkoudah E, Sahai I, Sweetser DA, Berry GT, Krier JB. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172.
Score: 0.018
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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: 0.017
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Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Bar?th ?, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Casti?eiras Ramos DE, Cocho de Juan JA, Rueda Fern?ndez I, Yahyaoui Mac?as R, Egea-Mellado JM, Gonz?lez-Gallego I, Delgado Pecellin C, Garc?a-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14(7):648-55.
Score: 0.010