Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in CARMIL2.

Authors: Rao, Lakshmi Priya¹ (AUTHOR), Kothiwale, Vishaka¹ (AUTHOR), Radhakrishnan, Periyasamy¹ (AUTHOR), Rangaswamy, Dharshan² (AUTHOR), Shukla, Anju¹ (AUTHOR), Bhat, Vivekananda¹ (AUTHOR) bhat.vivekananda@manipal.edu

Source: Indian Journal of Nephrology. Nov/Dec2024, Vol. 34 Issue 6, p1-3. 3p.

Subject Terms: *BIOPSY, *SKIN inflammation, *IMMUNOLOGICAL deficiency syndromes, *GLOMERULONEPHRITIS, *GENETIC variation, *REINFECTION, *NEPHROTIC syndrome, *SEQUENCE analysis

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Authors: Kaur, Namanpreet¹, do Rosario, Michelle C.¹, Majethia, Purvi¹, Mascarenhas, Selinda¹, Rao, Lakshmi Priya¹, Nair, Karthik Vijay¹, Hunakunti, Bhagesh¹, Prasannakumar, Adarsh Pooradan¹, Naik, Rohit¹, Narayanan, Dhanya Lakshmi¹, Nayak, Shalini S.¹, Bhat, Vivekananda¹, Sharma, Suvasini², Ramesh Bhat, Y.³, Yatheesha, B. L.⁴, Kulkarni, Rajesh⁵, Patil, Siddaramappa J.⁶, Nampoothiri, Sheela⁷, Siddiqui, Shahyan⁸, Girisha, Katta Mohan^1,9

Source: American Journal of Medical Genetics. Part A; Mar2025, Vol. 197 Issue 3, p1-11, 11p

Intelligent short term traffic forecasting using deep learning models with Bayesian contextual hyperband tuning

Authors: Swaminatha Rao, Lakshmi Priya, Jaganathan, Suresh

Source: Computational intelligence. 38(6):2009-2034

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168249908.0x000001&indx=1&recIds=ETOCvdc_100168249908.0x000001

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

Authors: Majethia, Purvi, Mishra, Shivani, Rao, Lakshmi Priya, Rao, Raghavendra, Shukla, Anju

Source: In European Journal of Medical Genetics September 2021 64(9)

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Authors: Mascarenhas, Selinda, Yeole, Mayuri, Rao, Lakshmi Priya, do Rosario, Michelle C., Majethia, Purvi, Nair, Karthik Vijay, Sharma, Suvasini, Barala, Praveen Kumar, Puri, Ratna Dua, Pal, Swasti, Siddiqui, Shahyan, Shukla, Anju

Source: Clinical Dysmorphology; Oct2024, Vol. 33 Issue 4, p160-166, 7p

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

Authors: Pande, Shruti, Majethia, Purvi, Nair, Karthik, Rao, Lakshmi Priya, Mascarenhas, Selinda, Kaur, Namanpreet, do Rosario, Michelle C., Neethukrishna, Kausthubham, Chaurasia, Ankur, Hunakunti, Bhagesh, Jadhav, Nalesh, Xavier, Sruthy, Kumar, Jeevan, Bhat, Vivekananda, Bhavani, Gandham SriLakshmi, Narayanan, Dhanya Lakshmi, Yatheesha, B. L., Patil, Siddaramappa J., Nampoothiri, Sheela, Kamath, Nutan, Aroor, Shrikiran, Bhat Y, Ramesh, Lewis, Leslie E., Sharma, Suvasini, Bajaj, Shruti, Sankhyan, Naveen, Siddiqui, Shahyan, Nayak, Shalini S., Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju

Source: European Journal of Human Genetics: EJHG; October 2024, Vol. 32 Issue: 10 p1291-1298, 8p

Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Authors: Majethia, Purvi, Kaur, Namanpreet, Mascarenhas, Selinda, Rao, Lakshmi Priya, Pande, Shruti, Narayanan, Dhanya Lakshmi, Bhat, Vivekananda, Nayak, Shalini S., Nair, Karthik Vijay, Prasannakumar, Adarsh Pooradan, Chaurasia, Ankur, Hunakunti, Bhagesh, Jadhav, Nalesh, Farooqui, Sheeba, Yeole, Mayuri, Kothiwale, Vishaka, Naik, Rohit, Bhat, Veena, Aroor, Shrikiran, Lewis, Leslie

Source: Clinical Genetics; Jun2024, Vol. 105 Issue 6, p639-654, 16p

Subject Terms: FAMILY counseling, EPILEPSY, GENETIC counseling, PHENOTYPES, CLINICAL deterioration

Geographic Terms: INDIA

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

Authors: Narayanan, Dhanya Lakshmi, Udyawar, Divya, Kaur, Parneet, Sharma, Suvasini, Suresh, Narayanaswamy, Nampoothiri, Sheela, do Rosario, Michelle C., Somashekar, Puneeth H., Rao, Lakshmi Priya, Kausthubham, Neethukrishna, Majethia, Purvi, Pande, Shruti, Ramesh Bhat, Y., Shrikiran, Aroor, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju

Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-7, 7p

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Authors: Sait, Haseena, Srivastava, Somya, Pandey, Manmohan, Ravichandran, Deepak, Shukla, Anju, Mandal, Kausik, Saxena, Deepti, Shambhavi, Arya, Majethia, Purvi, Rao, Lakshmi Priya, Sharma, Suvasini, Phadke, Shubha R., Moirangthem, Amita

Source: Neurogenetics; Apr2023, Vol. 24 Issue 2, p113-127, 15p

Subject Terms: IRON, GENOTYPES, NEURODEGENERATION, PHENOTYPES, MOLECULAR spectra

Geographic Terms: SOUTH Asia