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Divya Pachat

Observed name: DIVYA PACHAT
ORCID: 0000-0002-0059-3294
Observed ORCID: 0000-0002-0059-3294
OpenAlex ID: A5075166562
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
2019 · Aparna Ganapathy, Avshesh Mishra, et al. · Journal of Neurology · 41
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura
2014 · F. Buket Basmanav, Günter Fritz, et al. · Journal of Investigative Dermatology · 29
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
2023 · Eden Engal, Kaisa Teele Oja, et al. · The American Journal of Human Genetics · 23
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Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
2021 · Lavanya Ravichandran, Sophy Korula, et al. · European Journal of Medical Genetics · 9
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Thiamine-responsive megaloblastic anaemia
2024 · VIMAL MAVILA VEETIL, DIVYA PACHAT, et al. · The National Medical Journal of India · 6
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India
2023 · Sagar Bhattad, Rachna S. Mohite, et al. · Clinical and Experimental Medicine · 6
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Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies
2023 · Aarthi Balaji, Smilu Mohanlal, et al. · Annals of Indian Academy of Neurology · 5
Nasu–Hakola Disease – A Rare Type of Presenile Dementia
2022 · N.C. Krishnadas, Mansoor C. Abdulla, et al. · Annals of Indian Academy of Neurology · 3
Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease
2016 · Gautham Arunachal, Divya Pachat, et al. · Genetics Research International · 2
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Fragile but flexible: A rare case report of COL1-related overlap disorder
2025 · Dhanya Soodhana, Nafiya Palakkadath, et al. · Journal of Pediatric Endocrinology and Diabetes · 1
Intestinal hypomagnesemia-two cases of recurrent seizures: a diagnostic odyssey
2024 · Dhanya Soodhana, Deepa Anirudhan, et al. · International Journal of Contemporary Pediatrics · 1
Applied genetics in pediatric practice
2022 · M. Shagufa, Preetha Remesh, et al. · Pediatric Companion · 1
FUS positive juvenile ALS-diagnostic and therapeutic insights from a 16-year-old female patient
2022 · Anu Philip, Sachin Sureshbabu, et al. · Acta Neurologica Belgica · 1
Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer
2020 · Keechilat Pavithran, Divya Pachat, et al. · Egyptian Journal of Medical Human Genetics · 1
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Russell–Silver syndrome: A case series highlighting clinical heterogeneity, molecular diagnosis, and growth hormone response
2026 · Dhanya Soodhana, Nafiya Palakkadath, et al. · Journal of Pediatric Endocrinology and Diabetes
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Identification and genotype–phenotype correlation of RNF213 p.R4810K and non- p.R4810K variants in Moyamoya disease in an Indian cohort
2026 · P. N. Sylaja, Rinta Paul, et al. · Frontiers in Neurology
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A rare cause of salt wasting and failure to thrive in infancy: case of aldosterone synthase deficiency
2026 · Rose Mary Tom, Dhanya Soodhana Mohan, et al. · International Journal of Contemporary Pediatrics
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Urine Spot Beta2-Microglobulin as a Screening Tool for Dent Disease Type 1
2026 · Rehna Kakkidi Rahman, Farah Alsheikh Bakrou, et al. · International Journal of Clinical Pediatrics
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Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience
2026 · Hafsa, Smilu Mohanlal, et al. · Annals of Indian Academy of Neurology
Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India
2026 · Lubna K. P., Rehna K. Rahman, et al. · Journal of the Korean Society of Pediatric Nephrology
Osteogenesis Imperfecta Type XV: A Case Series
2025 · Ashiq Mohiyudheen Ali, J. Anoop, et al. · Journal of Orthopaedic Association of South Indian States
Osteogenesis imperfecta/ehler danlos overlap syndrome
2025 · Dhanya Soodhana, Nafiya Palakkadath, et al. · Endocrine Abstracts
Response to recombinant growth hormone therapy in an indian girl with 3-M syndrome
2025 · Divya Pachat, Dhanya Soodhana, et al. · Endocrine Abstracts
A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy
2024 · Rehna K. Rahman, Harisankar T., et al. · Pediatric Nephrology
Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective
2024 · Shijiya Sherin, Dhanya Soodhana, et al. · Cureus
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Works count: 35
Citation count: 129
H-index: 6
I10-index: 3
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