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