List of works - Gandham SriLakshmi Bhavani

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

scientific article published on 16 February 2016

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

scientific article published on 16 December 2015

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

scientific article published on 23 January 2014

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

scientific article

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

scientific article published on 27 June 2019

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

scientific article published on 22 November 2019

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

scientific article published on 18 March 2020

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

scientific article published on 24 November 2015

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

scientific article published on 06 April 2021

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

scientific article published on 08 October 2019

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

scientific article published on 14 February 2019

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

scientific article

Metatropic Dysplasia with a Novel Mutation in TRPV4.

scientific article published in August 2016

Multicentric Osteolysis Nodulosis and Arthropathy

scientific article

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

scientific article published on 08 May 2015

Novel and recurrent mutations in WISP3 and an atypical phenotype.

scientific article published on 18 May 2015

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

scientific article published on 06 November 2018

Progressive Pseudorheumatoid Dysplasia

scientific article

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

scientific article published on 19 December 2018

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

scientific article published on 24 June 2016

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

scientific article published on 21 December 2018

List of works by Gandham SriLakshmi Bhavani

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

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

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

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

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

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

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Multicentric Osteolysis Nodulosis and Arthropathy

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

Novel and recurrent mutations in WISP3 and an atypical phenotype.

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

Progressive Pseudorheumatoid Dysplasia

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

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

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