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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2014 1
2015 5
2016 7
2017 2
2018 4
2019 7
2020 5
2021 8
2022 5
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32 results
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Page 1
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, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2015 Nov 25 [updated 2020 Dec 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 26610319 Free Books & Documents. Review.
Multicentric Osteolysis Nodulosis and Arthropathy.
Bhavani GS, Shah H, Shukla A, Girisha KM. Bhavani GS, et al. 2016 Jul 14 [updated 2021 Sep 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2016 Jul 14 [updated 2021 Sep 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 27413800 Free Books & Documents. Review.
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
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B. Verheyen S, et al. Among authors: bhavani gs. J Med Genet. 2021 Dec 16:jmedgenet-2021-108061. doi: 10.1136/jmedgenet-2021-108061. Online ahead of print. J Med Genet. 2021. PMID: 34916232 Free article.
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.
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Guo L, et al. Among authors: bhavani gs. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 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 Free PMC article.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. Kausthubham N, et al. Among authors: bhavani gs. Hum Mutat. 2021 Apr;42(4):e15-e61. doi: 10.1002/humu.24172. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33502066
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
Jacob P, Bhavani GSL, Shah H, Galada C, Nampoothiri S, Kamath N, Phadke SR, Muranjan M, Datar CA, Shukla A, Girisha KM. Jacob P, et al. Among authors: bhavani gsl. Am J Med Genet A. 2022 Mar;188(3):751-759. doi: 10.1002/ajmg.a.62566. Epub 2021 Nov 9. Am J Med Genet A. 2022. PMID: 34750995
32 results