Publications by authors named "Ishwar Verma"

Claim this Profile
D
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.
Meena Bajaj Lall, Anju Joshi, Shruti Agarwal, Pushpa Saviour, Preeti Paliwal, Ishwar Chander Verma

Indian J Pediatr· January 2026

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
-
-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Ishwar C Verma

ArXiv· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
Sudha Kohli, Renu Saxena, Ratna Dua Puri, Sunita Bijarnia Mahay, Swasti Pal, Ishwar Verma

Eur J Hum Genet· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, Dhiren Gupta, Arun Soni, Ishwar Chander Verma

Eur J Hum Genet· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sapna Sandal, Ishwar Chander Verma, Sunita Bijarnia Mahay, Sudhisha Dubey, R K Sabharwal

Indian J Pediatr· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Indian Journal of Pediatrics: A Journey of Nine Decades.
Rakesh Lodha, Sushil K Kabra, Ishwar C Verma

Indian J Pediatr· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Antenatal Phenotype of Desbuquois Dysplasia.
Ishpreet K Biji, Sunita Bijarnia Mahay, Renu Saxena, Ishwar Verma, Benu Kumar

Indian J Pediatr· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis.
Veronica Arora, Swasti Pal, Samarth Kulshreshtha, Ishwar C Verma

J Pediatr Genet· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, Ashok Khurana, Dan Diego-Álvarez, Ishwar Chander Verma

Am J Med Genet A· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
COMMENT: The Medical Termination of Pregnancy (Amendment) Act, 2021: A step towards liberation.
Veronica Arora, Ishwar C Verma

Indian J Med Ethics· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic Testing in Pediatric Epilepsy.
Ishwar C Verma, Sameer Bhatia, Veronica Arora

Indian J Pediatr· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Ratna Dua Puri, Nitika Setia, Vinu N, Sujatha Jagadeesh, Sheela Nampoothiri, Jyotsna Verma, Ishwar C Verma

Neuromuscul Disord· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.
Sunita Bijarnia-Mahay, Gaurav Roy, Quasar S Padiath, Renu Saxena, Ishwar Chander Verma

Ann Indian Acad Neurol· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham S Bhavani, Samarth Kulshrestha, Ishwar C Verma

Hum Mutat· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic.
Swasti Pal, Sameer Bhatia, Sunita Bijarnia-Mahay, Ishwar C Verma, Ratna Dua Puri

Indian Pediatr· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss.
Meenakshi Lallar, Veronica Arora, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma

J Pediatr Genet· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
Sapna Sandal, Veronica Arora, Ishwar C Verma

Congenit Anom (Kyoto)· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic Pathogenic Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
Veronica Arora, Suliman Khan, Ayman W El-Hattab, Ratna Dua Puri, Maria Eugenia Rocha, Ishwar C Verma

J Am Soc Nephrol· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
K
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Ishwar C Verma

Brain· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.
Pratibha Bhai, Samarth Kulshrestha, Ratna D Puri, Sunita Bijarnia Mahay, Renu Saxena, Ishwar Chander Verma

Indian J Gastroenterol· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Divya Pasumarthi, Neerja Gupta, Jayesh Sheth, S Jamal Md Nurul Jain, Ikrormi Rungsung, Ishwar C Verma

J Hum Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Kanika Singh, Sunita Bijarnia-Mahay, V L Ramprasad, Ratna Dua Puri, Sandhya Nair, Ishwar C Verma

BMC Med Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Ishwar Chander Verma

JIMD Rep· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.
Ishwar C Verma, Sudha Kohli, Shruti Shenbagam, Sunita Bijarnia-Mahay, Ratna DuaPuri

Clin Genet· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis