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Year Number of Results
1993 2
2014 1
2015 5
2016 7
2017 2
2018 4
2019 7
2020 5
2021 3
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26 results
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Page 1
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ. Chang HR, et al. Among authors: bhavani gs. Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773278 Free PMC article.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M. Lin YC, et al. Among authors: bhavani gsl. Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11. Am J Hum Genet. 2021. PMID: 33308444
Bosley-Salih-Alorainy syndrome in patients from India.
Patil SJ, Karthik GA, Bhavani GS, Bhat V, Matalia J, Shah J, Shukla A, Girisha KM. Patil SJ, et al. Among authors: bhavani gs. Am J Med Genet A. 2020 Nov;182(11):2699-2703. doi: 10.1002/ajmg.a.61809. Epub 2020 Aug 31. Am J Med Genet A. 2020. PMID: 32864817
Progressive Pseudorheumatoid Dysplasia.
Bhavani GS, Shah H, Shukla A, Dalal A, Girisha KM. Bhavani GS, et al. 2015 Nov 25 [updated 2020 Dec 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2015 Nov 25 [updated 2020 Dec 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 26610319 Free Books & Documents. Review.
The promise of discovering population-specific disease-associated genes in South Asia.
Nakatsuka N, Moorjani P, Rai N, Sarkar B, Tandon A, Patterson N, Bhavani GS, Girisha KM, Mustak MS, Srinivasan S, Kaushik A, Vahab SA, Jagadeesh SM, Satyamoorthy K, Singh L, Reich D, Thangaraj K. Nakatsuka N, et al. Among authors: bhavani gs. Nat Genet. 2017 Sep;49(9):1403-1407. doi: 10.1038/ng.3917. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714977 Free PMC article.
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