| Liver transplantation in propionic and methylmalonic acidemia: a single center study with literature review NR Pillai, BM Stroup, A Poliner, L Rossetti, B Rawls, BJ Shayota, ... Molecular genetics and metabolism 128 (4), 431-443, 2019 | 60 | 2019 |
| Review of the phenotypic spectrum associated with haploinsufficiency of MYRF LZ Rossetti, K Glinton, B Yuan, P Liu, N Pillai, E Mizerik, P Magoulas, ... American journal of medical genetics Part A 179 (7), 1376-1382, 2019 | 54 | 2019 |
| L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency C Soler-Alfonso, N Pillai, E Cooney, KR Mysore, S Boyer, F Scaglia Molecular Genetics and Metabolism Reports 19, 100453, 2019 | 24 | 2019 |
| Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency NR Pillai, H Amin, C Gijavanekar, N Liu, N Issaq, KA Broniowska, ... American Journal of Medical Genetics Part A 182 (11), 2781-2787, 2020 | 22 | 2020 |
| Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures NR Pillai, NS AlDhaheri, R Ghosh, J Lim, H Streff, A Nayak, BH Graham, ... American Journal of Medical Genetics Part A 179 (10), 2138-2143, 2019 | 21 | 2019 |
| Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease NR Pillai, D Yubero, BJ Shayota, A Oyarzábal, R Ghosh, Q Sun, ... American Journal of Medical Genetics Part A 179 (12), 2459-2468, 2019 | 16 | 2019 |
| Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review D Mullikin, N Pillai, R Sanchez, AH O'Donnell-Luria, A Kritzer, L Tal, ... The Journal of Pediatrics 202, 315-319. e2, 2018 | 12 | 2018 |
| Phenotype-autosomal recessive osteopetrosis NR Pillai, A Aggarwal, P Orchard Bone 165, 116577, 2022 | 9 | 2022 |
| Novel deletion of 6p21. 31p21. 1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly NR Pillai, D Marafi, SA Monteiro, M Parnes, BM Chandy, A Patel, ... European Journal of Medical Genetics 62 (6), 103531, 2019 | 7 | 2019 |
| Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings A Aggarwal, NR Pillai, CJ Billington Jr, L Schema, SA Berry American Journal of Medical Genetics Part A 188 (4), 1239-1244, 2022 | 6 | 2022 |
| Biochemical signatures of disease severity in multiple sulfatase deficiency LA Adang, S Mowafy, ZM Herbst, Z Zhou, L Schlotawa, K Radhakrishnan, ... Journal of Inherited Metabolic Disease 47 (2), 374-386, 2024 | 4 | 2024 |
| Early neonatal cardiac phenotype in hurler syndrome: case report and literature review NR Pillai, A Ahmed, T Vanyo, CB Whitley Genes 13 (8), 1293, 2022 | 4 | 2022 |
| MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features NR Pillai, D Miller, G Bronken, AK Salunke, A Aggarwal American Journal of Medical Genetics Part A 188 (7), 2231-2236, 2022 | 3 | 2022 |
| Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening NR Pillai, NAV Fabie, TV Kaye, SD Rosendahl, A Ahmed, AD Hietala, ... Molecular genetics and metabolism 140 (1-2), 107633, 2023 | 2 | 2023 |
| Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1, 4, 5-Triphosphate Receptor 1 (ITPR1) Missense Variant NEB Tjaden, EH Chiou, NR Pillai, DA Schady, BP Chumpitazi ACG Case Reports Journal 8 (10), e00676, 2021 | 2 | 2021 |
| Evaluation of the effectiveness of hematopoietic stem cell transplantation in multiple sulfatase deficiency NR Pillai, PJ Orchard, R Ahrens-Nicklas, L Adang, SH Elsea, CB Whitley Molecular Genetics and Metabolism 132 (2), S87, 2021 | 2 | 2021 |
| Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series M Dykman, NR Pillai, K Lenhart, C Nicholson, C Boull, E Fritz, S Flanagan, ... Pediatric Dermatology 41 (2), 292-295, 2024 | 1 | 2024 |
| Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function NR Pillai, SA Elsbecker, AO Gupta, TC Lund, PJ Orchard, E Braunlin Molecular Genetics and Metabolism 140 (3), 107669, 2023 | 1 | 2023 |
| Newborn screening experience and outcome from a Minnesota Pompe disease consortium NR Pillai, NAV Fabie, TV Kaye, SD Rosendahl, A Ahmed, AD Hietala, ... Molecular Genetics and Metabolism 135 (2), S98, 2022 | 1 | 2022 |
| Comparison of therapeutic potential of ERT to chaperone therapy in I270T related Fabry disease T Vanyo, N Pillai, A Ahmed, CB Whitley Molecular Genetics and Metabolism 135 (2), S123, 2022 | 1 | 2022 |
