Knowledge Hub

An analysis of likely germline events by tumor tissue testing on large somatic panels.

Publications
Posted on 29 May, 2025

Oncology

A minimal comprehensive somatic panel to aid clinical decision making in a low cost setting.

Publications
Posted on 28 May, 2025

Oncology

Lynch syndrome: An unusual case of familial cancer unearthed

Publications
Posted on 14 April, 2022

Oncology

Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families

Publications
Posted on 7 January, 2022

Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.

Publications
Posted on 23 December, 2021

rdrh

Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing.

Publications
Posted on 8 August, 2021

rdrh

Validation of whole genome sequencing from dried blood spots

Publications
Posted on 20 April, 2021

rdrh

Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders

Publications
Posted on 25 March, 2021

rdrh

Ultrasensitive detection of tumor-specific mutations in saliva of patients with oral cavity squamous cell carcinoma

Publications
Posted on 6 January, 2021

Oncology

Landscape of clinically actionable mutations in breast cancer ‘A cohort study

Publications
Posted on 1 January, 2021

Oncology

Data Analysis in Rare Disease Diagnostics

Publications
Posted on 20 October, 2020

rdrh

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives

Publications
Posted on 17 October, 2020

rdrh

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience

Publications
Posted on 1 October, 2020

rdrh

Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India

Publications
Posted on 16 July, 2020

rdrh

Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology

Publications
Posted on 6 July, 2020

Oncology

Lipoprotein Lipase Deficiency

Publications
Posted on 30 May, 2020

rdrh

Development of a Low-cost NGS Test for the Evaluation of Thyroid Nodules

Publications
Posted on 20 November, 2019

Oncology

Homozygous sequestosome 1 ( SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy

Publications
Posted on 16 September, 2019

rdrh

Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations

Publications
Posted on 1 September, 2019

rdrh

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2

Publications
Posted on 10 July, 2019

rdrh

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Publications
Posted on 8 May, 2019

rdrh

Incidental Finding of Lynch Syndrome Role of Genetic Counselling

Publications
Posted on 25 April, 2019

Oncology

Analysis of solid tumor mutation profiles in liquid biopsy

Publications
Posted on 29 August, 2018

Oncology

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent

Publications
Posted on 11 April, 2018

rdrh

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing

Publications
Posted on 1 April, 2018

rdrh

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.

Publications
Posted on 22 February, 2018

Oncology

Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia

Publications
Posted on 1 February, 2018

Genotype-Phenotype Analysis in an Indian Family Affected with Li-Fraumeni Syndrome-Role of Genetic Counselling

Publications
Posted on 4 September, 2017

Oncology

Incidental Findings in Male Breast Carcinoma: A Genetic Counseling Approach

Publications
Posted on 4 September, 2017

Oncology

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia

Publications
Posted on 11 July, 2017

Oncology

Clinical and genetic analysis of Indian patients with NDP-related retinopathies

Publications
Posted on 10 June, 2017

rdrh

Strand Advantage test for early-line and advanced-stage treatment decisions in solid tumors

Publications
Posted on 19 January, 2017

Oncology

Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss

Publications
Posted on 22 September, 2016

rdrh

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases

Publications
Posted on 7 July, 2016

rdrh

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort

Publications
Posted on 1 April, 2016

Oncology

Identification of a novel glucokinase mutation in an Indian woman with GCK-MODY

Publications
Posted on 1 April, 2016

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

Publications
Posted on 25 February, 2016

Oncology

Recurrent  and novel  GLB1 mutations  in  India.  Gene

Publications
Posted on 10 August, 2015

Sample preparation method considerations for integrated transcriptomic and proteomic analysis of tumors

Publications
Posted on 6 August, 2015

Oncology

Release of (and lessons learned from mining) a pioneering large toxicogenomics database

Publications
Posted on 12 June, 2015

research

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Publications
Posted on 2 April, 2015

Evaluation of quantitative miRNA expression platforms in the microRNA quality control (miRQC) study

Publications
Posted on 29 June, 2014

research

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Publications
Posted on 25 March, 2014

rdrh

Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency

Publications
Posted on 25 October, 2012

rdrh

Bortezomib enhances the efficacy of fulvestrant by amplifying the aggregation of the estrogen receptor, which leads to a proapoptotic unfolded protein response