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Items: 18

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.

Am J Hum Genet. 2019 Feb 8. pii: S0002-9297(19)30009-6. doi: 10.1016/j.ajhg.2019.01.009. [Epub ahead of print]

PMID:
30773278
2.

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Rai MK, Pai R, Prabhu MA, Pasha SW, Kedambadi RC, Kamath P, Augustine AJ, Bhavani GS, Girisha KM.

Pacing Clin Electrophysiol. 2019 Feb;42(2):201-207. doi: 10.1111/pace.13569. Epub 2018 Dec 19.

PMID:
30516834
3.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.

Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.

PMID:
30488656
4.

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Uttarilli A, Shah H, Bhavani GS, Upadhyai P, Shukla A, Girisha KM.

Bone. 2019 Mar;120:204-211. doi: 10.1016/j.bone.2018.10.026. Epub 2018 Nov 6.

PMID:
30408610
5.

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, Kornak U, Girisha KM.

Bone. 2018 May;110:368-377. doi: 10.1016/j.bone.2018.02.029. Epub 2018 Feb 27.

PMID:
29499418
6.

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.

Nat Genet. 2017 Sep;49(9):1403-1407. doi: 10.1038/ng.3917. Epub 2017 Jul 17.

7.

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM.

Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27. Review.

PMID:
28127940
8.

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.

Soni JP, Puri RD, Jetha K, Bhavani GS, Chaudhary M, Kohli S, Verma IC.

Indian J Pediatr. 2016 Nov;83(11):1341-1345. Epub 2016 Oct 18.

PMID:
27753005
9.

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Narayanan DL, Bhavani GS, Girisha KM, Phadke SR.

Indian Pediatr. 2016 Aug 8;53(8):735-7.

10.

Multicentric Osteolysis Nodulosis and Arthropathy.

Bhavani GSL, Shah H, Shukla A, Girisha KM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Jul 14.

11.

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A.

Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24.

PMID:
27338287
12.

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A.

Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.

PMID:
26880018
13.

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K.

Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16.

14.

Progressive Pseudorheumatoid Dysplasia.

Bhavani GSL, Shah H, Shukla A, Dalal A, Girisha KM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Nov 25.

15.

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM.

Am J Med Genet A. 2016 Feb;170A(2):410-417. doi: 10.1002/ajmg.a.37447. Epub 2015 Nov 24.

PMID:
26601801
16.

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM.

Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. No abstract available.

PMID:
25988854
17.

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency.

Bartakke S, Saindane A, Udgirkar V, Shrividya S, Bhavani GS, Girisha KM.

Indian J Pediatr. 2015 Nov;82(11):1073-4. doi: 10.1007/s12098-015-1770-y. Epub 2015 May 8. No abstract available.

PMID:
25947267
18.

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K.

Am J Med Genet A. 2014 Apr;164A(4):1035-40. doi: 10.1002/ajmg.a.36381. Epub 2014 Jan 23.

PMID:
24458843

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