Neerja Gupta

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 44

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Anterior Cruciate Ligament Reconstruction

Pulmonary Hypertension

Top Venues

Indian journal of pediatrics

American journal of medical genetics. Part A

Journal of pediatric genetics

Clinical genetics

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

Publications

Nitika Langeh, Mohammed Tahir Ansari, Madhulika Kabra, Neerja Gupta
Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India. American journal of medical genetics. Part A (2024)
Mounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, Punit Kaur, Shah Alam Khan, Madhulika Kabra, Neerja Gupta
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. American journal of medical genetics. Part A 194 (8) (2024)
Nitika Langeh, Mohammed Tahir Ansari, Madhulika Kabra, Neerja Gupta
Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India. American journal of medical genetics. Part A 194 (5) (2024)
Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, J P Meena, S K Kabra, Madhulika Kabra, Neerja Gupta
The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance. Indian journal of pediatrics (2024)
Mounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, Punit Kaur, Shah Alam Khan, Madhulika Kabra, Neerja Gupta
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. American journal of medical genetics. Part A 194 (8) (2024)
Neerja Gupta, Mounika Endrakanti
Economic Evaluation of Rare Disease Therapies in India - The Time has Come! Indian journal of pediatrics (2024)
Neerja Gupta, Mounika Endrakanti
Economic Evaluation of Rare Disease Therapies in India - The Time has Come! Indian journal of pediatrics 91 (5) (2024)
Mounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, Punit Kaur, Shah Alam Khan, Madhulika Kabra, Neerja Gupta
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. American journal of medical genetics. Part A (2024)
Mounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, Punit Kaur, Shah Alam Khan, Madhulika Kabra, Neerja Gupta
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. American journal of medical genetics. Part A 194 (8) (2024)
Nitika Langeh, Mohammed Tahir Ansari, Madhulika Kabra, Neerja Gupta
Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India. American journal of medical genetics. Part A 194 (5) (2024)
Nitika Langeh, Mohammed Tahir Ansari, Madhulika Kabra, Neerja Gupta
Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India. American journal of medical genetics. Part A 194 (5) (2024)
Neerja Gupta, Mounika Endrakanti
Economic Evaluation of Rare Disease Therapies in India - The Time has Come! Indian journal of pediatrics 91 (5) (2024)
Sudhisha Dubey, Neerja Gupta
Navigating the Complex Landscape of CYP21A2 Variants. Indian journal of pediatrics 91 (2) (2023)
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, Puneeta Mishra, Kanwal Preet Kocchar, Madhulika Kabra, Biswaroop Chakrabarty, Mani Kalaivani, Savita Sapra, Pallavi Mishra, Sheffali Gulati, Neerja Gupta
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease. American journal of medical genetics. Part A 191 (4) (2023)
Sudhisha Dubey, Neerja Gupta
Navigating the Complex Landscape of CYP21A2 Variants. Indian journal of pediatrics 91 (2) (2023)
Mounika Endrakanti, Madhulika Kabra, Neerja Gupta
Wilson Disease-Genomic Complexities Yet to Be Unveiled! Indian journal of pediatrics 90 (3) (2023)
Sudhisha Dubey, Neerja Gupta
Navigating the Complex Landscape of CYP21A2 Variants. Indian journal of pediatrics (2023)
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, Puneeta Mishra, Kanwal Preet Kocchar, Madhulika Kabra, Biswaroop Chakrabarty, Mani Kalaivani, Savita Sapra, Pallavi Mishra, Sheffali Gulati, Neerja Gupta
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease. American journal of medical genetics. Part A 191 (4) (2023)
Mounika Endrakanti, Madhulika Kabra, Neerja Gupta
Wilson Disease-Genomic Complexities Yet to Be Unveiled! Indian journal of pediatrics (2023)
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, Puneeta Mishra, Kanwal Preet Kocchar, Madhulika Kabra, Biswaroop Chakrabarty, Mani Kalaivani, Savita Sapra, Pallavi Mishra, Sheffali Gulati, Neerja Gupta
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease. American journal of medical genetics. Part A 191 (4) (2023)
Mounika Endrakanti, Madhulika Kabra, Neerja Gupta
Wilson Disease-Genomic Complexities Yet to Be Unveiled! Indian journal of pediatrics 90 (3) (2023)
Neerja Gupta, Nitika Langeh, Aparna Sharma, Asit Mridha, Manisha Jana, Adarsh Barwad, Kalaivani Mani, Vatsla Dadhwal, Atin Kumar, Dipika Deka, Madhulika Kabra
Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study. Birth defects research (2023)
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, Puneeta Mishra, Kanwal Preet Kocchar, Madhulika Kabra, Biswaroop Chakrabarty, Mani Kalaivani, Savita Sapra, Pallavi Mishra, Sheffali Gulati, Neerja Gupta
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease. American journal of medical genetics. Part A (2023)
Ambika Gupta, Puneeta Mishra, Madhumita Roy Chowdhury, Shah Alam Khan, Manisha Jana, Madhulika Kabra, Neerja Gupta
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader. Indian journal of pediatrics (2023)
Neerja Gupta, Mounika Endrakanti, Meenakshi Bhat, Nivedita Rao, Ravneet Kaur, Madhulika Kabra
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia. Indian journal of pediatrics (2023)
Bhawana Aggarwal, Madhulika Kabra, Atin Kumar, Anu Thukral, Neerja Gupta
Not Everything That Shines on CT Scan is TORCH! Indian journal of pediatrics (2023)
Selvamanojkumar S, Neerja Gupta
Rickets is Not Always Nutritional! Indian journal of pediatrics (2023)
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, Kirti Mittal, Jayarama Kadandale, Yuval Yogev, Ohad S Birk, Neerja Gupta, Prahlad Balakrishnan, Manisha Jana, Meena Gupta, Madhulika Kabra, Bittianda Kuttapa Thelma
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome. Annals of human genetics 86 (5) (2022)
Neerja Gupta, Mounika Endrakanti, Noopur Gupta, Vatsla Dadhwal, Kamal Naini, Smita Manchanda, Ragib Khan, Manisha Jana
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant. American journal of medical genetics. Part A 188 (7) (2022)
Neerja Gupta, Ravneet Kaur, Shubha Rao Phadke, Pankaj Sharma, Sheela Nampoothiri, Deepti Saxena, Madhulika Kabra
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients. American journal of medical genetics. Part A 188 (4) (2022)
Bhawana Aggarwal, Alec R E Correa, Neerja Gupta, Manisha Jana, Madhulika Kabra
First case report of Penttinen syndrome from India. American journal of medical genetics. Part A (2021)
Kshitija Patil, Neerja Gupta
Lipoprotein Lipase Deficiency: Diet is the Key! Indian journal of pediatrics 88 (2) (2021)
Ambika Gupta, Madhulika Kabra, Neerja Gupta
Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension. Indian journal of pediatrics 88 (12) (2021)
Alec Reginald Errol Correa, Kamal Naini, Pallavi Mishra, Vatsla Dadhwal, Ramesh Agarwal, Rashmi Shukla, Madhulika Kabra, Neerja Gupta
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Prenatal diagnosis 41 (11) (2021)
Ravneet Kaur, Ishrat Siddiqui, Vijay Mathur, Manisha Jana, Madhulika Kabra, Neerja Gupta
Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India. American journal of medical genetics. Part A 182 (8) (2020)
Alec Reginald Errol Correa, Puneeta Mishra, Madhulika Kabra, Neerja Gupta
Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases. Indian journal of pediatrics 87 (3) (2020)
Shama Perveen, Neerja Gupta, Manoj Kumar, Punit Kaur, Madhumita R Chowdhury, Madhulika Kabra
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. American journal of medical genetics. Part A 182 (5) (2020)
Ambika Gupta, Madhulika Kabra, Neerja Gupta
Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital! Indian journal of pediatrics 87 (7) (2020)
Bhawana Aggarwal, Madhulika Kabra, Neerja Gupta
Report of an Indian Family with Sengers Syndrome. Indian journal of pediatrics 88 (1) (2020)
Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Maria Irene Valenzuela Palafoll, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia
Skeletal abnormalities are common features in Aymé-Gripp syndrome. Clinical genetics 97 (2) (2019)
Neerja Gupta, Alec Reginald Errol Correa, Manisha Jana, Madhulika Kabra
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type. Journal of pediatric genetics 8 (3) (2019)
Neerja Gupta, Nitika Langeh, Aparajit Sridharan, Madhulika Kabra
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C. Journal of pediatric genetics 9 (2) (2019)
Sakshi Yadav, Seema Thakur, Juergen Kohlhase, Neetu Bhari, Madhulika Kabra, Neerja Gupta
Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome. Journal of pediatric genetics 8 (3) (2019)
Puneeth H Somashekar, Katta Mohan Girisha, Sheela Nampoothiri, Kalpana Gowrishankar, Radha R Devi, Neerja Gupta, Dhanya L Narayanan, Anupriya Kaur, Shruti Bajaj, Sujatha Jagadeesh, Leslie E S Lewis, Shenoy Shailaja, Anju Shukla
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical genetics 95 (3) (2018)