Sumita Danda - Publications, H-index & Citations

Sumita Danda

Christian Medical College

23H指数

208论文数

2.4K被引数

收录论文 36

发表时间

Considering Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Prenatal Genetic Assessment of Cystic Renal Anomalies 在囊性肾异常的产前基因评估中考虑多种酰基辅酶A脱氢酶缺乏症(MADD)

Prenatal Diagnosis

IF2.7

2026-09-29

PREAI

Noel Deep Luke; Lois Sara James; Manisha Madhai Beck; Preethi Raja Navaneethan; Rekha Aaron; Sumita Danda

Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health 南印度一个社区中Canavan病的患病率及携带者频率及其对研究和公共卫生的启示

Scientific Reports

IF3.9

2026-05-16

OAAI

Rekha Aaron; Aaron Chapla; M. Jayaprabha; Janane Elangovan; Roopa Kunthavai Chellappa; Asha Krishnamurthy; Ramya Raghavan; Mrinalini Peters; Maya Thomas; Sumita Danda

Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions 印度范围内囊性纤维化跨膜电导调节因子（CFTR）基因变异的分布概况及其在不同地理区域的差异性

Gene

IF2.4

2025-11-05

PREAI

Madhumita Roy Chowdhury; Indu Kumari; Kana Ram Jat; Nitin Dhochak; Rakesh Lodha; Sneha Varkki; Prawin Kumar; Jagdish Prasad Goyal; Javeed Iqbal Bhat; SK Kabra; Aaron Chapla; Jhuma Sankar; Madhan Kumar; Sumita Danda; Neerja Gupta; Princy Bamal; Priyanka Medhi; null RuchiDudeja; Madhulika Kabra

Systematized Linear Porokeratosis, with Underlying Mevalonate Kinase Mutation, Treated with a Combination of Radiosurgery and Oral Acitretin

INDIAN DERMATOLOGY ONLINE JOURNAL

IF2

2025-11-01

PREAI

Ray, Arunima; Pulimood, Susanne A.; Thomas, Meera; Danda, Sumita

Genetic predisposition and the impact of missense genetic variants on the structural and functional protein dynamics in idiopathic pulmonary fibrosis

LUNG INDIA

IF1.2

2025-11-01

PREAI

Barney, Anitha Mohanraj; Isaac, Barney; Christopher, Devasahayam J.; Thangakunam, Balamugesh; Balaji, Janani; Mohan, Venkata Raghava; Christudass, Christhunesa Soundararajan; Danda, Debashish; Danda, Sumita

Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India-An LMIC Setting-Over Half a Decade 调查单基因疾病产前诊断在印度（一个中低收入国家）的发展趋势与挑战——历时半个多世纪的研究

PRENATAL DIAGNOSIS

IF2.7

2025-05-19

PREAI

James, Lois Sara; Luke, Noel Deep; Sindhuvi, Eunice; Illangovan, Hemalatha; Aaron, Rekha; Navaneethan, Preethi Raja; Gowri, Mahasampath; Danda, Sumita; Beck, Manisha Madhai

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-11-06

OAAI

Singh, Swati; Danda, Sumita; Sharma, Neetu; Shah, Hitesh; Madhuri, Vrisha; Mir, Tariq Altaf; Padala, Nadia Zipporah; Medishetti, Raghavender; Ekbote, Alka; Bhavani, Gandham SriLakshmi; Sevilimedu, Aarti; Girisha, Katta M.

CFTR mutations and phenotypic correlations in people with cystic fi brosis: a retrospective study from a single centre in south India

LANCET REGIONAL HEALTH - SOUTHEAST ASIA

IF6.2

2024-08-01

OAAI

Varkki, Sneha D.; Aaron, Rekha; Chapla, Aaron; Danda, Sumita; Medhi, Priyanka; Rani, N. Jansi; Paul, Grace R.

High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia

ENDOCRINE

IF2.9

2024-03-05

PREAI

Ravichandran, Lavanya; Paul, Shriti; Rekha, A.; Asha, H. S.; Mathai, Sarah; Simon, Anna; Danda, Sumita; Thomas, Nihal; Chapla, Aaron

EPILEPSIA

IF6.6

2024-01-17

PREAI

Yoganathan, Sangeetha; Whitney, Robyn; Thomas, Maya; Danda, Sumita; Chettali, Akbar Mohamed; Prasad, Asuri N.; Farhan, Sali M. K.; Alsowat, Daad; Abukhaled, Musaad; Aldhalaan, Hesham; Gowda, Vykuntaraju K.; Kinhal, Uddhava V.; Bylappa, Arun Y.; Konanki, Ramesh; Lingappa, Lokesh; Parchuri, Bindu Madhavi; Appendino, Juan P.; Scantlebury, Morris H.; Cunningham, Jessie; Hadjinicolaou, Aristides; El Achkar, Christelle Moufawad; Kamate, Mahesh; Menon, Ramshekhar N.; Jose, Manna; Riordan, Gillian; Kannan, Lakshminarayanan; Jain, Vivek; Manokaran, Ranjith Kumar; Chau, Vann; Donner, Elizabeth J.; Costain, Gregory; Minassian, Berge A.; Jain, Puneet

Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review

PEDIATRIC NEUROLOGY

IF2.1

2023-09-01

PREAI

Yoganathan, Sangeetha; Bhasin, Himani; Garg, Divyani; Malik, Prateek; Saini, Arushi Gahlot; Chandran, Mahalakshmi; Korula, Sophy; Arunachal, Gautham; Danda, Sumita; Thomas, Maya; Oommen, Samuel Philip; Sharma, Suvasini

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2022-10-07

OAAI

Kotambail, Ananthapadmanabha; Selvam, Pavalan; Muthusamy, Karthik; Thomas, Maya; Sudhakar, Sniya Valsa; Ghati, Chetan; Danda, Sumita; Arunachal, Gautham

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease - A Preliminary Study

clinical and experimental pediatrics

IF3.2

2022-03-01

OAAI

Aaron, Rekha; Chapla, Aaron; Danda, Sumita; Zachariah, Uday; Eapen, Chundamannil E.; Goel, Ashish

SGCE Myoclonus-Dystonia An Inherited Movement Disorder

NEUROLOGY

IF8.5

2022-02-15

PREAI

Yoganathan, Sangeetha; Kumar, Madhan; Sharma, Suvasini; Patel, Smruti; Danda, Sumita; Thomas, Maya

Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families

JOURNAL OF CYSTIC FIBROSIS

IF6

2021-09-01

OAAI

Varkki, Sneha; Benjamin, Antony Terance; Athiyarath, Rekha; Danda, Sumita; Sowmya, Ravikumar; Connett, Gary

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2021-07-11

OAAI

Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma P.; Feldman, Hagit Baris; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Lau, Heather; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Foster, Meredith C.; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith

Co-occurrence of Aicardi-Goutieres syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India

CLINICAL AND EXPERIMENTAL DERMATOLOGY

IF2.8

2021-01-04

PREAI

Sathishkumar, D.; Muthusamy, K.; Gupta, A.; Malhotra, M.; Thomas, M.; Koshy, B.; Jasper, A.; Danda, S.; George, R.

Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study

clinical and experimental pediatrics

IF3.2

2020-05-01

OAAI

Korula, Sophy; Danda, Sumita; Paul, Praveen G.; Mathai, Sarah; Simon, Anna

Individual patient responses to eliglustat in treatment-naive adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-01

PREAI

Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma; Feldman, Hagit Baris; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Lau, Heather; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Foster, Meredith C.; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith

Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus

RHEUMATOLOGY INTERNATIONAL

IF2.9

2019-07-01

PREAI

Ganapati, Arvind; Arunachal, Gautham; Arya, Suvrat; Shanmugasundaram, Devika; Jeyaseelan, Lakshmanan; Kumar, Sathish; Danda, Sumita; Danda, Debashish

研究方向