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Author

Gayatri Nerakh

Observed name: Nerakh, Gayatri
Institution: Fernandez Hospital
ORCID: 0009-0001-9696-364X
Observed ORCID: 0009-0001-9696-364X
OpenAlex ID: A5028458745
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum
2022 · Gayatri Nerakh, Venugopal S. Vineeth, et al. · American Journal of Medical Genetics Part A · 10
Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy
2018 · Gayatri Nerakh, Prajnya Ranganath · The Indian Journal of Pediatrics · 10
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum
2020 · Gayatri Nerakh, Prajnya Ranganath, et al. · Journal of Pediatric Genetics · 7
A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies
2024 · Mishu Mangla, Gayatri Nerakh, et al. · NeoReviews · 4
CEP135 associated primary microcephaly-A rare presentation in early second trimester
2021 · Gayatri Nerakh, K. Mounika, et al. · European Journal of Medical Genetics · 3
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome
2024 · Gayatri Nerakh, Swetha Koneru, et al. · Clinical Dysmorphology · 2
Expanding the Phenotypic Spectrum of Syndromic Arthrogryposis Multiplex Congenita: Role of Biallelic Variants in COL25A1 Across Fetal and Pediatric Periods
2026 · Gayatri Nerakh, Anjana Kar, et al. · The Indian Journal of Pediatrics · 1
Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
2025 · Gayatri Nerakh, Vineeth V. S., et al. · International Journal of Contemporary Pediatrics · 1
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SENP7 ‐Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation
2025 · Pratima Pal, Gayatri Nerakh, et al. · Clinical Genetics · 1
A Floppy Infant with Facial Dysmorphism
2021 · Praneeth Kumar, Gayatri Nerakh, et al. · NeoReviews · 1
Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel
2019 · Gayatri Nerakh, Ashwani Tandon, et al. · Journal of Fetal Medicine · 1
Expanded Newborn Screening in South India: A Nine-Year Evaluation of Programme Uptake, Recall, and Diagnostic Yield
2026 · Gayatri Nerakh, A Sireesha Tirumalaraju, et al. · Cureus
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Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights
2026 · R. Sahithi Rathod, Geeta Kolar, et al. · Clinical Genetics
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Binder Phenotype in a Fetus with CHD3-Related Snijders Blok-Campeau Syndrome
2026 · Ramavath S. Rathod, Polavarapu P. Jyothsna, et al. · Journal of Fetal Medicine
Erratum: Binder Phenotype in a Fetus with CHD3-Related Snijders Blok-Campeau Syndrome
2026 · Ramavath S. Rathod, Polavarapu P. Jyothsna, et al. · Journal of Fetal Medicine
Mesoaxial synostotic syndactyly with phalangeal reduction caused by same homozygous BHLHA9 variant in a non-consanguineous Indian couple
2026 · Prashanth Rao Dhareneni, R. Sahithi Rathod, et al. · Journal of Rare Diseases
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Reproductive Decision-Making in the Context of Xp22.31 Copy Number Variants: A Prenatal Genetic Counseling Approach
2025 · Gayatri Nerakh, Sahithi Rathod · Genetic Clinics
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies
2025 · Gayatri Nerakh, Prashanth Rao Dhareneni, et al. · Clinical Dysmorphology
Uncovering the Genetic Basis of Recurrent Split Hand/Foot Malformation: A Case Report and Review
2025 · Arati Singh, Gayatri Nerakh, et al. · Journal of Fetal Medicine
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Author response for "SENP7-Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation"
2025 · Pal, Pratima, Nerakh, Gayatri, et al. · Publons reviews and discussion
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder
2025 · Gayatri Nerakh, Rachana RD, et al. · Clinical Dysmorphology
Spectrum of Chromosomal Abnormalities Detected by Chromosomal Microarray in Fetuses with Abnormal Ultrasound Findings: A Prospective Observational Cohort Study
2025 · Saritha Redishetty, Priyanka Mallidi, et al. · Gynecology Obstetrics and Reproductive Medicine
Clinical and Molecular Aspects of Craniofrontonasal Syndrome due to Contiguous Gene Deletion Involving AWAT2, EFNB1, EDA, OTUD6A, and PJA1 Genes
2024 · Mansi Gupta, Gayatri Nerakh · Journal of Fetal Medicine
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Developmental delay and autism with hypertrichosis cubiti: a clue to the diagnosis of Wiedemann-Steiner syndrome
2024 · Gayatri Nerakh, Chaitanya Varma · International Journal of Contemporary Pediatrics
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Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
2023 · Gayatri Nerakh, Sireesha, et al. · Acta Scientific Paediatrics
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Works count: 30
Citation count: 41
H-index: 4
I10-index: 2
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