Sunita Bijarnia Mahay (Sunita Bijarnia-Mahay)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 20

Top Venues

Indian journal of pediatrics

European journal of human genetics : EJHG

Clinical genetics

Case reports in genetics

Sir Ganga Ram Hospital

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Sir Ganga Ram Hospital

India

Senior Consultant/Dr :: Institute of Medical Genetics & Genomics

Publications

Sunita Bijarnia Mahay
Methylmalonic Acidemia - Matter Most Awaited! Indian journal of pediatrics 91 (7) (2024)
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, Dhiren Gupta, Arun Soni, Renu Saxena, Sunita Bijarnia Mahay, Ishwar Chandar Verma, Ratna Dua Puri
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder. European journal of human genetics : EJHG (2024)
Sunita Bijarnia Mahay
Methylmalonic Acidemia - Matter Most Awaited! Indian journal of pediatrics 91 (7) (2024)
Sunita Bijarnia Mahay
Methylmalonic Acidemia - Matter Most Awaited! Indian journal of pediatrics (2024)
Sunita Bijarnia Mahay, Sameer Bhatia, Deepti Gupta, Aditi Sud, Sudhisha Dubey, Renu Saxena
CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis. Indian journal of pediatrics 91 (8) (2024)
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, Dhiren Gupta, Arun Soni, Renu Saxena, Sunita Bijarnia Mahay, Ishwar Chandar Verma, Ratna Dua Puri
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder. European journal of human genetics : EJHG 32 (9) (2024)
Sunita Bijarnia Mahay, Sameer Bhatia, Deepti Gupta, Aditi Sud, Sudhisha Dubey, Renu Saxena
CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis. Indian journal of pediatrics (2024)
Luna Bajracharya, Meena Lall, Sunita Bijarnia Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia. Case reports in genetics 2023 (2023)
Sudha Kohli, Renu Saxena, Ratna Dua Puri, Sunita Bijarnia Mahay, Swasti Pal, Sudhisha Dubey, Veronica Arora, Ishwar Chandar Verma
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications. European journal of human genetics : EJHG (2023)
Sapna Sandal, Sunita Bijarnia Mahay, Nandita Dimri Gupta, Renu Saxena, Meena Lall, Ratna Dua Puri
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort. American journal of medical genetics. Part A 188 (6) (2022)
Sunita Bijarnia Mahay, Ranjana Mishra
Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend. Indian journal of pediatrics 88 (5) (2021)
Ishwar Chandar Verma, Sudha Kohli, Shruti Shenbagam, Sunita Bijarnia Mahay, Ratna DuaPuri, Renu Saxena
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications. Clinical genetics 98 (2) (2021)
Sunita Bijarnia Mahay, Puneeth H Somashekar, Parneet Kaur, Samarth Kulshrestha, Vedam L Ramprasad, Sakthivel Murugan, Seema Sud, Anju Shukla
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene. Journal of human genetics (2021)
Parneet Kaur, Michelle C do Rosario, Malavika Hebbar, Suvasini Sharma, Neethukrishna Kausthubham, Karthik Nair, Shrikiran A, Ramesh Bhat Y, Leslie Edward S Lewis, Sheela Nampoothiri, Siddaramappa Jagdish Patil, Narayanaswami Suresh, Sunita Bijarnia Mahay, Ratna Dua Puri, Shivanand Pai, Anupriya Kaur, Rakshith Kc, Nutan Kamath, Shruti Bajaj, Ali Kumble, Rajesh Shetty, Rathika Shenoy, Mahesh Kamate, Hitesh Shah, Mamta N Muranjan, Yatheesha Bl, K Shreedhara Avabratha, Girish Subramaniam, Rajagopal Kadavigere, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Clinical genetics 100 (5) (2021)
Veronica Arora, Sunita Bijarnia Mahay, K K Saxena, Praveen Suman, Shyam Kukreja
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis. Journal of pediatric genetics 11 (1) (2020)
Sunita Bijarnia Mahay, Vivek Jain, Beat Thöny
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient. JIMD reports 53 (1) (2020)
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
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. BMC medical genetics 21 (1) (2020)
Veronica Arora, Sunita Bijarnia Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autopsy & case reports 9 (4) (2019)
Sunita Bijarnia Mahay, Johannes Häberle, Anil B Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C Verma
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet journal of rare diseases 13 (1) (2018)
Pratibha Bhai, Sunita Bijarnia Mahay, Ratna D Puri, Renu Saxena, Deepti Gupta, Udhaya Kotecha, Anil Sachdev, Dhiren Gupta, Vyomesh Vyas, Divya Agarwal, Vivek Jain, Rajeev K Bansal, Tapisha G Kumar, Ishwar Chander Verma
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K). Annals of human genetics 82 (5) (2018)

Sunita Bijarnia Mahay.css-eqlu8i{font-size:small;padding-left:4px;} (Sunita Bijarnia-Mahay)

Publication Activity (10 Years)

Top Topics

Top Venues

Sunita Bijarnia Mahay (Sunita Bijarnia-Mahay)