| Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitorTM Assay BA Sisson, J Uvalic, K Kelly, P Selvam, AN Hesse, G Ananda, H Chandok, ... Biomarker Insights 14, 1177271919826545, 2019 | 22 | 2019 |
| Congenital myasthenic syndrome: spectrum of mutations in an Indian cohort P Selvam, G Arunachal, S Danda, A Chapla, A Sivadasan, M Alexander, ... Journal of clinical neuromuscular disease 20 (1), 14-27, 2018 | 18 | 2018 |
| High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations … D Pratt, Z Abdullaev, A Papanicolau-Sengos, C Ketchum, ... Acta neuropathologica 143 (3), 403-414, 2022 | 14 | 2022 |
| Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth P Selvam, A Jain, A Cheema, H Atwal, I Forghani, PS Atwal American Journal of Medical Genetics Part A 185 (2), 539-543, 2021 | 13 | 2021 |
| Evaluating gene fusions in solid tumors–Clinical experience using an RNA based 53 gene next-generation sequencing panel P Selvam, K Kelly, AN Hesse, D Spitzer, HV Reddi Cancer Genetics 233, 32-42, 2019 | 11 | 2019 |
| Molecular and clinicopathologic characteristics of gliomas with EP300:: BCOR fusions Z Wu, S Rajan, HJ Chung, M Raffeld, P Panneer Selvam, L Schweizer, ... Acta neuropathologica 144 (6), 1175-1178, 2022 | 8 | 2022 |
| Recurrent ACVR1 mutations in posterior fossa ependymoma D Pratt, CHG Lucas, PP Selvam, Z Abdullaev, C Ketchum, M Quezado, ... Acta neuropathologica 144 (2), 373-376, 2022 | 6 | 2022 |
| Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event A Kotambail, P Selvam, K Muthusamy, M Thomas, SV Sudhakar, C Ghati, ... European Journal of Human Genetics 31 (1), 73-80, 2023 | 4 | 2023 |
| Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies P Selvam, A Jain, J Abbott, AS Ahuja, A Cheema, KA Bruno, H Atwal, ... Molecular syndromology 13 (4), 282-289, 2022 | 3 | 2022 |
| Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect JE Richter Jr, S Hines, P Selvam, H Atwal, H Farres, TR Caulfield, ... Cancer Genetics 252, 107-110, 2021 | 3 | 2021 |
| A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome A Jain, P Selvam, H Atwal, PS Atwal Journal of Pediatric Genetics 9 (01), 063-065, 2020 | 3 | 2020 |
| A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features K Lavanya, K Mahtani, J Abbott, A Jain, P Selvam, H Atwal, H Farres, ... American Journal of Medical Genetics Part A 188 (7), 2192-2197, 2022 | 2 | 2022 |
| Mutation yield of a custom 212-gene next-generation sequencing panel for solid tumors: clinical experience of the first 260 cases tested using the JAX ActionSeq™ assay P Selvam, MC Hsiao, G Omerza, D Bergeron, S Rowe, J Uvalic, M Soucy, ... Molecular Diagnosis & Therapy 24, 103-111, 2020 | 2 | 2020 |
| Importance of family history in the era of exome analysis: a report of a family with multiple concurrent genetic diseases K Mahtani, D Park, J Abbott, PP Selvam, PS Atwal Human Heredity 86 (1-4), 28-33, 2021 | 1 | 2021 |
| Genomics combined with a protein informatics platform to assess a novel pathogenic variant c. 1024 A> G (p. K342E) in OPA1 in a patient with autosomal dominant optic atrophy AS Ahuja, P Selvam, C Vadlamudi, H Chopra, JE Richter Jr, SK Macklin, ... Ophthalmic Genetics 41 (6), 563-569, 2020 | 1 | 2020 |
| Novel COL11A2 pathogenic variants in a child with autosomal recessive otospondylomegaepiphyseal dysplasia: a review of the literature P Selvam, S Singh, A Jain, H Atwal, PS Atwal Journal of Pediatric Genetics 9 (02), 117-120, 2020 | 1 | 2020 |
| Genomic profiling of two histologically distinct rare urothelial cancers in a clinical setting to identify potential therapeutic options for treatment and management of disease AN Hesse, W Fabricius, CA Thomas, R Gaindh, R Christman, P Selvam, ... Case Reports in Oncology 11 (1), 196-205, 2018 | 1 | 2018 |
| P166: MEK inhibitor therapy for lymphatic malformations: A focused approach in patients with RASopathies V Taliercio, P Selvam, G Akay, S Cole, J Flores-Daboub, D Viskochil Genetics in Medicine Open 2, 2024 | | 2024 |
| P262: First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings PP Selvam, G Paramasivam, S Danda Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| P321: Expanding the phenotypic spectrum of Currarino syndrome with cardiac anomalies V Taliercio, G Akay, PP Selvam, L Botto, H Underhill Genetics in Medicine Open 1 (1), 2023 | | 2023 |
Paldeep Singh Atwal, MDAtwal ClinicVerified email at AtwalClinic.com
