Inderneel Sahai to Male
This is a "connection" page, showing publications Inderneel Sahai has written about Male.
Connection Strength
0.212
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Sahai I, Mochida GH, Grabowski EF, Caruso PA. Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis. N Engl J Med. 2014 Aug 28; 371(9):847-58.
Score: 0.026
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Mitchell ML, Hsu HW, Sahai I. Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes. 2014 Feb; 21(1):39-44.
Score: 0.025
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Sahai I, Zytkowicz T, Rao Kotthuri S, Lakshmi Kotthuri A, Eaton RB, Akella RR. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India. Indian J Pediatr. 2011 Aug; 78(8):953-60.
Score: 0.020
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Gupta P, Goyal S, Grant PE, Fawaz R, Lok J, Yager P, Sharma A, Sassower K, Noviski N, Browning M, Sahai I. Acute liver failure and reversible leukoencephalopathy in a pediatric patient with homocystinuria. J Pediatr Gastroenterol Nutr. 2010 Nov; 51(5):668-71.
Score: 0.020
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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: 0.014
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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: 0.013
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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: 0.012
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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: 0.012
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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: 0.010
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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: 0.009
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Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Am J Med Genet A. 2019 07; 179(7):1276-1286.
Score: 0.009
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Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619.
Score: 0.009
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Chapuy CI, Sahai I, Sharma R, Zhu AX, Kozyreva ON. Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm. Oncologist. 2016 Apr; 21(4):514-20.
Score: 0.007
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Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 2013 Nov; 161A(11):2762-76.
Score: 0.006
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Mitchell ML, Hsu HW, Sahai I. The increased incidence of congenital hypothyroidism: fact or fancy? Clin Endocrinol (Oxf). 2011 Dec; 75(6):806-10.
Score: 0.005
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Fearing MK, Israel EJ, Sahai I, Rapalino O, Lisovsky M. Case records of the Massachusetts General Hospital. Case 12-2011. A 9-month-old boy with acute liver failure. N Engl J Med. 2011 Apr 21; 364(16):1545-56.
Score: 0.005
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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: 0.005
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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: 0.005