Integrated analysis of transcriptome and genome variations in pediatric T cell acute lymphoblastic leukemia: data from north Indian tertiary care center

Autor: Minu Singh, Pankaj Sharma, Prateek Bhatia, Amita Trehan, Rozy Thakur, Sreejesh Sreedharanunni

Publikováno v: BMC Cancer, Vol 24, Iss 1, Pp 1-9 (2024)

Abstract Introduction T-cell acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease with poor prognosis and inferior outcome. Although multiple studies have been perform on genomics of T-ALL, data from Indian sub-continent is sca

Externí odkaz: https://doaj.org/article/d610686b1dc04a3ba53460c3e4705f7a

Therapy-Acquired Clonal Mutations in Thiopurine Drug-Response Genes Drive Majority of Early Relapses in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia

Autor: Rozy Thakur, Prateek Bhatia, Minu Singh, Sreejesh Sreedharanunni, Pankaj Sharma, Aditya Singh, Amita Trehan

Publikováno v: Diagnostics, Vol 13, Iss 5, p 884 (2023)

Methods: Forty pediatric (0–12 years) B-ALL DNA samples (20 paired Diagnosis-Relapse) and an additional six B-ALL DNA samples (without relapse at 3 years post treatment), as the non-relapse arm, were retrieved from the biobank for advanced genomic

Externí odkaz: https://doaj.org/article/c474539d64ad41f09cd093b1c556789b

Clinico-hematological and Outcome Profile of Pediatric B-other-ALL and BCR::ABL1-like pre-B-ALL: An Integrated Genomic Study From North India

Autor: Srinivasan Peyam, Prateek Bhatia, Minu Singh, Pankaj Sharma, Sreejesh Sreedharanunni, Manupdesh S. Sachdeva, Shano Naseem, Deepak Bansal, Neelam Varma, Rozy Thakur, Amita Trehan

Publikováno v: Clinical Lymphoma Myeloma and Leukemia. 22:e667-e679

BCR::ABL1-like pre-B-ALL comprises a myriad of genetic lesions making molecular diagnosis challenging and expensive. Its frequency and outcome are less studied in resource-constraint settings.154 pre-B-ALL cases (0-12 years) were enrolled as group 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::355bd79c5faeb718bc46fa7fe03fe364
https://doi.org/10.1016/j.clml.2022.03.007

Targeted next generation sequencing panel based screening and diagnosis of bone marrow failure cohort reveals diverse genomic landscape of pathogenic germline variants

Autor: PRATEEK BHATIA, Swetha Palla, Gnanamani Senguttuvan, Prashant Chhabra, Minu Singh, Alka Khadwal, Arihant Jain, Pankaj Sharma, Rozy Thakur, Sreejesh Sreedharanu, Deepak Bansal, Richa Jain, Srinivasan Peyam, Sonali Mohapatra, Ankur Jindal, Deepti Suri, Reena Das, Neelam Varma, Pankaj Malhotra, Amita Trehan

Introduction: Current study is a 4 year experience in diagnosis and screening of bone marrow failure cases using a targeted sequencing panel. Methods: A total of 171 cases underwent targeted NGS and were categorized as suspected inherited bone marrow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77783a482cb10b7ea1a566565f9fa9b9
https://doi.org/10.21203/rs.3.rs-2229099/v1

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Autor: Inusha Panigrahi, Rozy Thakur, Akshay Kumar Saxena, Anupriya Kaur, Pallavelangini Swetha

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200008, Published: 26 MAR 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ef1bf5a8a2315801138767b985c3b7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100503&lng=en&tlng=en