List of works - Ghada A Otaify

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

scientific article published on 31 August 2021

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

scientific article

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

scientific article published on 28 June 2014

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

scientific article published on 20 June 2019

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

scientific article

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

scientific article published on 9 August 2017

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

scientific article published on 22 January 2018

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect

scientific article published on 23 May 2018

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

scientific article published on 21 November 2017

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

scientific article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

scientific article published on 8 April 2017

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

scientific article

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation

scientific article published in 2022

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

scientific article

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study

scientific article published on 3 July 2015

List of works by Ghada A Otaify

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study