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Prenatal Genetics
Comprehensive prenatal genetic testing and risk assessment to identify inherited and chromosomal conditions early in pregnancy, supporting informed decision-making for expecting parents.
About the doctor
Dr. Mayuri Yeole
Central India's first DM Medical Geneticist
Consultant Geneticist and Rare Disease Specialist · MBBS, MD (Pediatrics), DM (Medical Genetics)
Dr. Mayuri Yeole helps individuals and families understand the genetic factors behind health and illness, with clear answers, personalised care, and supportive counselling across a wide range of inherited and rare conditions.
5+
Years of experience
500+
Genome analyses interpreted
350+
Families helped
Biography
A clinician who explains, and stays
Dr. Mayuri Yeole is a Pediatrician and Clinical Geneticist with a distinguished academic record and a deep commitment to patient-centred genetic care. She completed her MD in Pediatrics from Jawaharlal Nehru Medical College (JNMC), Sawangi, Wardha, graduating as a Gold Medalist and receiving awards for Best Outgoing Student and Subject Topper in Pediatrics. Her early experiences caring for children and families inspired a lasting curiosity about the root causes of disease, a curiosity that led her to the field of Medical Genetics.
She pursued her DM in Medical Genetics from Kasturba Medical College and Hospital, Manipal, one of India's premier institutes, where she was honoured with the Young Researcher Award by the Manipal Academy of Higher Education. She holds the distinction of being the first Clinical Geneticist in Central India, bringing advanced expertise in the diagnosis and management of rare and inherited disorders to the region.
Her clinical interests include reproductive genetics, neurodevelopmental and metabolic disorders, skeletal dysplasias, and hematological disorders. She has a special focus on interpreting complex genetic and genomic tests, and on helping families understand the significance of genetic findings in clear, compassionate terms.
In reproductive genetics, she provides preconception and prenatal counselling so couples can understand genetic risks and make informed choices. Her work in neurodevelopmental and metabolic disorders centres on early diagnosis and comprehensive care for children with developmental delays. She also has significant experience managing skeletal dysplasias and inherited blood disorders such as sickle cell anaemia, thalassaemia, and haemophilia.
Beyond her clinical practice, Dr. Yeole is passionate about spreading awareness of genetics in everyday medicine. She believes genetics is no longer the medicine of the future, but an essential part of healthcare today. By empowering both clinicians and families with genetic knowledge, she works to bridge the gap between scientific discovery and real-world care, so that every diagnosis leads to understanding, and every family finds guidance and hope.
Areas of expertise
Specialised genetic care across conditions
- Reproductive Genetics
- Prenatal Genetics
- Neuromuscular and neurogenetic disorders
- Metabolic disorders
- Skeletal dysplasia
- Thalassaemia, haemophilia and other blood disorders
- Cancer Genetics
Career
Work experience
Consultant Geneticist
Novagen Genetics Clinic, Nagpur
Consultant, Department of Pediatrics
Apollo Hospitals, Bengaluru
Junior Consultant, Department of Pediatrics
Apollo Hospitals, Nashik
Assistant Professor
Jawaharlal Nehru Medical College, Sawangi, Wardha
Senior Resident, Pediatric Intensive Care
Narayana Hrudayalaya, Bengaluru
Education
Education and training
DM, Medical Genetics
2025
MD, Pediatrics
2013, Gold Medal
MBBS
Maharashtra University of Health Sciences, Nashik, 2004
Recognition
Awards and accomplishments
- Dr SS Agarwal Young Scientist Award 2025, 10th Annual Conference of the Society of Indian Academy of Genetics, Pune
- Young Researcher Award, MAHE Inter-Health Sciences Postgraduate Research Conference (Manipal Quest 1.0), 2024
- Best Outgoing Student and Gold Medalist in Pediatrics, JNMC, Datta Meghe Institute of Medical Sciences, 2013
Affiliations
Professional memberships
- Indian Medical Association (IMA)
- Indian Academy of Pediatrics (IAP)
- Society of Mitochondrial Research and Medicine (SMRM)
- Society of Indian Academy of Medical Genetics (SIAMG)
Research
Conferences and publications
Dr. Yeole's peer-reviewed research and conference presentations in genetics and rare disease.
Conferences and presentations
- A novel hemizygous stop gain variant in GPC4 causes distinct dysmorphic Keipert syndrome. Oral presentation, European Society of Human Genetics Conference, 2024, Berlin, Germany
- A biallelic variant, c.1139T>G, in DAP3 is associated with encephalopathy, liver failure, lactic acidosis, and early infantile death. European Society of Human Genetics Conference, 2024, Berlin, Germany
- Report of a novel bi-allelic variant in BRCA1 causing chromosomal instability syndrome. 7th Manipal Genetic Update, 2024, Manipal, Karnataka
- Further validation of association of bi-allelic variants in SLC25A10 with developmental and epileptic encephalopathy. American Society of Human Genetics 75th Annual Meeting, 2023, Washington DC
- Report of a novel bi-allelic variant in MRPS2 causing combined oxidative phosphorylation deficiency 36. Mitochondria in Biology and Medicine, 2023, Hyderabad
- Conquering the disability: breastfeeding in children with cleft lip and palate. National Childhood Disability Conference, 2012, Nagpur
- Pharmaco-prophylaxis in patients with sickle cell anemia. APPICON, 2010, Nagpur
Publications
- Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome. American Journal of Medical Genetics. Part A, e63892. Yeole, M., Majethia, P., Siddiqui, S., Girisha, K. M., Shukla, A., Radhakrishnan, P., & Bhat, V. (2024).
- Kandettu, A., Yeole, M., Sekar, H. et al. Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish. European Journal of Human Genetics (2025).
- Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder. Clinical Genetics, 10.1111/cge.14663. Radhakrishnan, P., Quadri, N., Erger, F., Fuhrmann, N., Geist, O. M., Netzer, C., Khyriem, I., Muranjan, M., Udani, V., Yeole, M., Mascarenhas, S., Limaye, S., Siddiqui, S., Upadhyai, P., & Shukla, A. (2024).
- Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype. American Journal of Human Genetics, S0002-9297(24)00416-6. Smith, T. B., Kopajtich, R., Demain, L. A. M., Rea, A., Thomas, H. B., Schiff, M., Beetz, C., Joss, S., Conway, G. S., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Berges, M., Glasgow, R. I. C., Thompson, K., Olahova, M., He, L., Jenkinson, E. M., & Newman, W. G. (2024).
- Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature. Clinical Dysmorphology, 33(4), 160-166. Mascarenhas, S., Yeole, M., Rao, L. P., do Rosario, M. C., Majethia, P., Nair, K. V., Sharma, S., Barala, P. K., Puri, R. D., Pal, S., Siddiqui, S., & Shukla, A. (2024).
- Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: counseling and therapeutic implications. Clinical Genetics, 105(6), 639-654. Majethia, P., Kaur, N., Mascarenhas, S., Rao, L. P., Pande, S., Narayanan, D. L., Bhat, V., Nayak, S. S., Nair, K. V., Prasannakumar, A. P., Chaurasia, A., Hunakunti, B., Jadhav, N., Farooqui, S., Yeole, M., Kothiwale, V., Naik, R., Bhat, V., Aroor, S., Lewis, L., & Shukla, A. (2024).
- Pan ophthalmitis: a rare yet preventable complication of dengue infection. Indian Journal of Practical Pediatrics, 2021; 23(3):316. Yeole M, Dev H, Nagaraju R.
- Multiple hard swellings. Pediatric Oncall, Oct 2011; 8(10); Article no. 67. Damke S, Yeole M, Swarnakar K, Balpande D.
- Risk factors of acute respiratory infection (ARI) in under-fives in a rural hospital of central India. Journal of Pediatric and Neonatal Individualized Medicine, 2016; 5(1): e050105. Taksande A, Yeole M.
What we do
Services at Novagen Clinic
Our aim is to bring clarity, compassion, and precision to every diagnosis -
helping families make informed decisions and clinicians deliver the best possible care.
Neuromuscular and neurogenetic disorders
Diagnosis and management of genetic conditions affecting the brain, nerves, and muscles, including inherited neuropathies, muscular dystrophies, and neurodevelopmental disorders.
Metabolic disorders
Evaluation and genetic testing for inherited metabolic disorders that affect energy production and metabolism, enabling early diagnosis, treatment planning, and long-term management.
Skeletal dysplasia
Specialized genetic assessment of skeletal dysplasias and growth disorders, focusing on bone development abnormalities, short stature conditions, and related inherited syndromes.
Thalassaemia, haemophilia and other blood disorders
Genetic diagnosis, carrier screening, and counselling for inherited blood disorders such as thalassaemia, haemophilia, and other hematological genetic conditions.
Genetic counselling centre
Personalized genetic counselling services to help individuals and families understand genetic test results, inherited risks, and available testing options with clarity and confidence.