Amita Moirangthem

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 12

Top Topics

Intellectual Disability

Botulinum Toxin

Gas Chromatography Mass Spectrometry

Top Venues

American journal of medical genetics. Part A

Journal of pediatric genetics

International journal of laboratory hematology

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

Publications

Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha Rao Phadke, Amita Moirangthem
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families. Neurogenetics (2023)
Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, Ashok Khurana, Dan Diego-Álvarez, Laura Pradas, Renu Saxena, Shubha Rao Phadke, Amita Moirangthem, Suzena Masih, Seema Sud, Ishwar Chandar Verma, Ratna Dua Puri
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. American journal of medical genetics. Part A 188 (8) (2022)
Haseena Sait, Amita Moirangthem, Vinita Agrawal, Shubha Rao Phadke
Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl. American journal of medical genetics. Part A 188 (6) (2022)
Haseena Sait, Somya Srivastava, Somesh Kumar, Bijo Varughese, Manmohan Pandey, Manjunath Venkatramaiah, Parul Chaudhary, Amita Moirangthem, Kausik Mandal, Seema Kapoor
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients. Journal of pediatric genetics 13 (1) (2022)
Haseena Sait, Somya Srivastava, Somesh Kumar, Bijo Varughese, Manmohan Pandey, Manjunath Venkatramaiah, Parul Chaudhary, Amita Moirangthem, Kausik Mandal, Seema Kapoor
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients. Journal of pediatric genetics 13 (1) (2022)
Suzena Masih, Amita Moirangthem, Shubha Rao Phadke
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. American journal of medical genetics. Part A 185 (5) (2021)
Neha Agrawal, Ravi Kumar, Suzena Masih, Priyanka Srivastava, Parshw Singh, Sushil Kumar Jaiswal, Amita Moirangthem, Deepti Saxena, Shubha Rao Phadke, Kausik Mandal
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants. International journal of laboratory hematology (2021)
Amita Moirangthem, Kausik Mandal, Deepti Saxena, Priyanka Srivastava, Poonam Singh Gambhir, Neha Agrawal, Arya Shambhavi, Sheela Nampoothiri, Shubha Rao Phadke
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India. American journal of medical genetics. Part A 185 (8) (2021)
Amita Moirangthem, Shubha Rao Phadke
Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability. American journal of medical genetics. Part A 185 (4) (2021)
Mayank Nilay, Amita Moirangthem, Deepti Saxena, Kausik Mandal, Shubha Rao Phadke
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program. American journal of medical genetics. Part A 185 (1) (2020)
Suzena Masih, Amita Moirangthem, Shubha Rao Phadke
Renpenning syndrome in an Indian patient. American journal of medical genetics. Part A 182 (2) (2019)
Katta Mohan Girisha, Gandham S Bhavani, Hitesh Shah, Amita Moirangthem, Anju Shukla, Ok-Hwa Kim, Gen Nishimura, Geert R Mortier
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American journal of medical genetics. Part A 182 (2) (2019)