Ishorst N; Hölzel S; Greve C; Yilmaz Ö; Lindenberg T; Lambertz J; Drichel D; Zametica B; Mingardo E; Kalanithy JC; Channab K; Kibris D; Henne S; Degenhardt F; Siewert A; Dixon M; Kruse T; Ongkosuwito E; Girisha KM; Pande S; Nowak S; Hagelueken G; Geyer M; Carels C; van Rooij IALM; Ludwig KU; Odermatt B; Mangold E, 2025. Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models. &nbspEur J Hum Genet 33(5):595-606

Majethia P; Kaur N; Mascarenhas S; Rao LP; Pande S; Narayanan DL; Bhat V; Nayak SS; Nair KV; Prasannakumar AP; Chaurasia A; Hunakunti B; Jadhav N; Farooqui S; Yeole M; Kothiwale V; Naik R; Bhat V; Aroor S; Lewis L; Purkayastha J; Bhat YR; Praveen BK; Yatheesha BL; Patil SJ; Nampoothiri S; Kamath N; Siddiqui S; Bielas S; Girisha KM; Sharma S; Shukla A, 2024. Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. &nbspClin Genet 105(6):639-654

Pande S; Majethia P; Nair K; Rao LP; Mascarenhas S; Kaur N; do Rosario MC; Neethukrishna K; Chaurasia A; Hunakunti B; Jadhav N; Xavier S; Kumar J; Bhat V; Bhavani GS; Narayanan DL; Yatheesha BL; Patil SJ; Nampoothiri S; Kamath N; Aroor S; Bhat Y R; Lewis LE; Sharma S; Bajaj S; Sankhyan N; Siddiqui S; Nayak SS; Bielas S; Girisha KM; Shukla A, 2024. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. &nbspEur J Hum Genet 32(10):1291-1298

Pande S; Ghosh DK, 2023. Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases. &nbspFASEB J 37(8):e23116

Pande S; Mascarenhas S; Venkatraman A; Bhat V; Narayanan DL; Siddiqui S; Bielas S; Girisha KM; Shukla A, 2023. Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy. &nbspAm J Med Genet A 191(8):2175-2180

Patil SJ; Pande S; Matalia J; Bhat V; Kekatpure M; Girisha KM, 2023. Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review. &nbspJ Pediatr Genet 12(1):58-63

Ghosh DK; Pande S; Kumar J; Yesodharan D; Nampoothiri S; Radhakrishnan P; Reddy CG; Ranjan A; Girisha KM, 2022. The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging. &nbspAging Cell 21(11):e13688

Narayanan DL; Udyawar D; Kaur P; Sharma S; Suresh N; Nampoothiri S; do Rosario MC; Somashekar PH; Rao LP; Kausthubham N; Majethia P; Pande S; Ramesh Bhat Y; Shrikiran A; Bielas S; Girisha KM; Shukla A, 2021. Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling. &nbspEur J Hum Genet 29(12):1774-1780

Pande S; Radhakrishnan P; Shetty NM; Shukla A; Girisha KM, 2021. Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. &nbspAm J Med Genet A 185(9):2756-2765

Sheikh TI; Vasli N; Pastore S; Kharizi K; Harripaul R; Fattahi Z; Pande S; Naeem F; Hussain A; Mir A; Islam O; Girisha KM; Irfan M; Ayub M; Schwarzer C; Najmabadi H; Shukla A; Sladky VC; Braun VZ; Garcia-Carpio I; Villunger A; Vincent JB, 2021. Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. &nbspTransl Psychiatry 11(1):1

Pande S; Shukla A; Girisha KM, 2020. Trichothiodystrophy type 4 in an Indian family. &nbspAm J Med Genet A 182(10):2226-2229

Girisha KM; Pande S; Dalal A; Phadke SR, 2020. Untapped opportunities for rare disease gene discovery in India. &nbspAm J Med Genet A 182(12):3056-3059

Publication list retrieved from NCBI using ImpactPubs

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