Sahai I - Search Results

1

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

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. Torene RI, et al. Among authors: sahai i. Am J Hum Genet. 2024 Jan 4;111(1):70-81. doi: 10.1016/j.ajhg.2023.11.007. Epub 2023 Dec 12. Am J Hum Genet. 2024. PMID: 38091987 Free PMC article.

2

Atlantoaxial instability associated with ALDH18A1 mutation.

Lucas AT, Lin AE, Cohen A, Muñoz W, Kahle KT, Shin JH, Buch K, Sahai I, Carroll RW. Lucas AT, et al. Among authors: sahai i. Am J Med Genet A. 2023 Dec;191(12):2898-2902. doi: 10.1002/ajmg.a.63388. Epub 2023 Sep 1. Am J Med Genet A. 2023. PMID: 37655511

3

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

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. Grady LO, et al. Among authors: sahai i. Am J Med Genet A. 2024 Nov 19:e63940. doi: 10.1002/ajmg.a.63940. Online ahead of print. Am J Med Genet A. 2024. PMID: 39559959

4

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Ramirez Alcantara J, Grant NR, Sethuram S, Nagy A, Becker C, Sahai I, Stanley T, Halper A, Eichler FS. Ramirez Alcantara J, et al. Among authors: sahai i. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1306-e1315. doi: 10.1210/clinem/dgad286. J Clin Endocrinol Metab. 2023. PMID: 37220095 Free PMC article.

5

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.

Rani S, Sahai I, Misra M. Rani S, et al. Among authors: sahai i. JCEM Case Rep. 2023 Sep 21;1(5):luad109. doi: 10.1210/jcemcr/luad109. eCollection 2023 Sep. JCEM Case Rep. 2023. PMID: 37908211 Free PMC article.

6

Incidence of preexisting B-cell aplasia in B-ALL: implications for post-CAR T-cell monitoring.

Sahai I, Borgman P, Yates B, Rosenzweig S, Rampertaap S, Rankin AW, Shah NN. Sahai I, et al. Blood Adv. 2024 Dec 24;8(24):6329-6333. doi: 10.1182/bloodadvances.2024014641. Blood Adv. 2024. PMID: 39454282 No abstract available.

7

Multiple Major Aortopulmonary Collateral Arteries With Tetralogy of Fallot and Other Congenital Cardiac Disorders Detected in the Fourth Decade: A Report of a Rare Case.

Sahai I, Ghosh B, Raut V, Mahalle V, Agrawal G. Sahai I, et al. Cureus. 2024 Jun 26;16(6):e63194. doi: 10.7759/cureus.63194. eCollection 2024 Jun. Cureus. 2024. PMID: 39070380 Free PMC article.

8

An Unusual Relation in an Infant With Left Hemitruncus and Tetralogy of Fallot Along With Pulmonary Valve Syndrome: A Case Report.

Ghosh B, Sahai I, Raut V, Mahalle V, Agrawal G. Ghosh B, et al. Among authors: sahai i. Cureus. 2024 Jun 22;16(6):e62916. doi: 10.7759/cureus.62916. eCollection 2024 Jun. Cureus. 2024. PMID: 39040748 Free PMC article.

9

Case Report: Hives and faints, an unusual affair.

Toshniwal S, Kinkar J, Kumar S, Acharya S, Tikas M, Sahai I, Ghosh B, Naseri S. Toshniwal S, et al. Among authors: sahai i. F1000Res. 2024 Jul 9;12:1193. doi: 10.12688/f1000research.141339.2. eCollection 2023. F1000Res. 2024. PMID: 39036346 Free PMC article.

10

Case Report: Multiple atherosclerotic plaques at its extreme in synchrony.

Toshniwal S, Sahai I, Ghosh B, Chaturvedi A, Agrawal G, Acharya S, Kumar S, Khadse S, Khurana K. Toshniwal S, et al. Among authors: sahai i. F1000Res. 2024 Jan 24;12:738. doi: 10.12688/f1000research.135416.3. eCollection 2023. F1000Res. 2024. PMID: 38434660 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

55 results

Search Page

Filters