Ishwar C. Verma

New Delhi

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Papers173 papers

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Neuro-Regression in a Child with Silvery Hair

Veronica Arora, Monika Jain,Ishwar C Verma

Indian journal of pediatrics, pp.1-2, (2020)

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Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective

James D. Massa, Veronica Arora, Meenakshi Lallar, Sunita Bijarnia,Ratna Dua Puri,Ishwar C. Verma

Journal of Fetal Medicine, no. 1 (2020): 9-16

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Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

Veronica Arora,Nitika Setia,Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan,Shubha R Phadke,Renu Saxena, Anshu Rohtagi,Ishwar C Verma,Ratna Dua Puri

Molecular Genetics and Metabolism Reports, (2020): 100561

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Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study

Nitika Setia, Sireesha Movva,Prahlad Balakrishnan, Ishpreet K Biji,Jitendra Pal Singh Sawhney, Raman Puri,Anjali Arora,Ratna D Puri,Renu Saxena, Sanghamitra Mishra, Sanika Apte, Samarth Kulshrestha

Journal of Clinical Lipidology, no. 1 (2020): 35-45

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Genetic Testing in Pediatric Epilepsy

Ishwar C. Verma, Sameer Bhatia, Veronica Arora

Indian Journal of Pediatrics, pp.1-8, (2020)

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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,Renu Saxena

CLINICAL GENETICS, no. 2 (2020): 198.0-199.0

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Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease

Neerja Gupta,Zoheb B Kazi,Sheela Nampoothiri, Sujatha Jagdeesh,Madhulika Kabra,Ratna Dua Puri,Mamta Muranjan,Mani Kalaivani,Catherine Rehder,Deeksha Bali,Ishwar C Verma,Priya S Kishnani

JOURNAL OF PEDIATRICS, (2020): 44-+

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Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred

Ranjana Mishra, Vibha Jain, Deepti Gupta,Renu Saxena, Samarth Kulshreshtha, Vedam L. Ramprasad,Ishwar C. Verma,Ratna Dua Puri

MOLECULAR SYNDROMOLOGY, no. 1 (2020): 43-49

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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,Neerja Gupta,Madhulika Kabra,Prajnya Ranganath,Meenakshi Bhat,Shubha Phadke, Akella Radha Rama Devi,Sujatha Jagadeesh

JIMD reports, no. 1 (2020): 82-94

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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 journal of gastroenterology : official journal of the Indian Society of Gastroenterology, pp.1-9, (2020)

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Genetic Testing in Pediatric Kidney Disease

Veronica Arora, Kanav Anand,Ishwar Chander Verma

Indian Journal of Pediatrics, pp.1-10, (2020)

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Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India

Sumita Danda, Sony Mohan, Prabavathi Devaraj, Atanu K Dutta,Sheela Nampoothiri,Dhanya Yesodharan,Shubha R Phadke, Anil B Jalan, K Thangaraj,Ishwar Chandra Verma,Debashish Danda, Isaac Jebaraj

CLINICAL RHEUMATOLOGY, no. 9.0 (2020): 2743.0-2749.0

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Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India

Veronica Arora,Ratna D. Puri,Sunita Bijarnia‐Mahay,Ishwar C. Verma

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 5.0 (2020): 953.0-956

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Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory Rickets

Sapna Sandal, Veronica Arora,Ishwar C Verma

Indian journal of pediatrics, (2020)

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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

Journal of pediatric genetics, (2020)

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Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease

Veronica Arora,Sunita Bijarnia-Mahay, Vaibhav Tiwari, Savita Bansal, Pallav Gupta,Nitika Setia,Ratna D Puri,Ishwar C Verma

European Journal of Medical Genetics, no. 3 (2020): 103734

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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, Sheetal Sharda,Renu Saxena,Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral,Ishwar C Verma

BMC medical genetics, no. 1 (2020): 216

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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,Madhulika Kabra,Prajnya Ranganath,Shagun Aggarwal,Shubha R Phadke,Katta M Girisha,Anju Shukla,Chaitanya Datar

Journal of human genetics, no. 11 (2020): 971-984

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Unique skeletal manifestations in patients with Primrose syndrome

Veronica Arora,Eyby Leon, Jullianne Diaz,Hanne Buciek Hove,Daniel Rocha Carvalho,Kenji Kurosawa, Natao Nishimura,Gen Nishimura,Renu Saxena,Carlos Ferreira,Ratna Dua Puri,Ishwar C Verma

European Journal of Medical Genetics, no. 8 (2020): 103967

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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Veronica Arora, Suliman Khan,Ayman W El-Hattab,Ratna Dua Puri, Maria Eugenia Rocha, Rijad Merdzanic,Omid Paknia,Christian Beetz,Arndt Rolfs,Aida M Bertoli-Avella,Peter Bauer,Ishwar C Verma

Journal of the American Society of Nephrology : JASN, (2020)

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Papers173 papers

Ishwar C. Verma