Bhavani Gs

Bhavani Gs

Manipal University - Karnataka / India
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 544327
मणिपाल यूनिवर्सिटी
person_outline Bhavani Gs's MOST POPULAR ARTICLES
1-) The promise of discovering population-specific disease-associated genes in South AsiaN Nakatsuka, P Moorjani, N Rai, B Sarkar, A Tandon, N Patterson, ...Nature genetics 49 (9), 1403-1407, 20171242017
2-) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathyKM Girisha, A Shukla, D Trujillano, GS Bhavani, M Hebbar, R Kadavigere, ...Clinical genetics 90 (6), 536-539, 2016682016
3-) The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed …KM Girisha, L von Elsner, K Neethukrishna, M Muranjan, A Shukla, ...Human mutation 40 (3), 299-309, 2019422019
4-) SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ...The American Journal of Human Genetics 108 (1), 115-133, 2021532021
5-) Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiencyS Verheyen, J Blatterer, MR Speicher, GSL Bhavani, GJ Boons, MB Ilse, ...Journal of medical genetics 59 (10), 957-964, 2022482022