Pillai NR - Search Results

1

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. Pillai NR, et al. Am J Med Genet A. 2019 Oct;179(10):2138-2143. doi: 10.1002/ajmg.a.61288. Epub 2019 Jul 10. Am J Med Genet A. 2019. PMID: 31290619

2

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B₁₂ Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. Mullikin D, et al. J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. J Pediatr. 2018. PMID: 30057141 Review.

3

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.

4

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA. Pillai NR, et al. Am J Med Genet A. 2019 Dec;179(12):2459-2468. doi: 10.1002/ajmg.a.61357. Epub 2019 Sep 13. Am J Med Genet A. 2019. PMID: 31520464

5

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Pillai NR, et al. Mol Genet Metab. 2019 Dec;128(4):431-443. doi: 10.1016/j.ymgme.2019.11.001. Epub 2019 Nov 7. Mol Genet Metab. 2019. PMID: 31757659 Free PMC article. Review.

6

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Pillai NR, et al. Am J Med Genet A. 2020 Nov;182(11):2781-2787. doi: 10.1002/ajmg.a.61851. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32909658

7

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Pillai NR, Liu N, Li X, Li X, Ahrens-Nicklas R, Adang L, Eisengart JB, Bronken G, Gupta A, Lund TC, Whitley CB, Elsea SH, Orchard PJ. Pillai NR, et al. Commun Med (Lond). 2025 Jan 9;5(1):12. doi: 10.1038/s43856-024-00703-8. Commun Med (Lond). 2025. PMID: 39789203 Free PMC article.

8

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Pillai NR, Marafi D, Monteiro SA, Parnes M, Chandy BM, Patel A, Bacino CA, Breman AM, Burrage LC. Pillai NR, et al. Eur J Med Genet. 2019 Jun;62(6):103531. doi: 10.1016/j.ejmg.2018.08.012. Epub 2018 Aug 22. Eur J Med Genet. 2019. PMID: 30142436

9

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A. Pillai NR, et al. Am J Med Genet A. 2021 Jun;185(6):1870-1874. doi: 10.1002/ajmg.a.62170. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729671

10

Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.

Aggarwal A, Pillai NR, Billington CJ Jr, Schema L, Berry SA. Aggarwal A, et al. Among authors: pillai nr. Am J Med Genet A. 2022 Apr;188(4):1239-1244. doi: 10.1002/ajmg.a.62608. Epub 2021 Dec 14. Am J Med Genet A. 2022. PMID: 34905296

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