List of works - Arif O. Khan

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

scientific article published on 28 July 2017

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

scientific article

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

scientific article published on 3 November 2012

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

scientific article published in October 2010

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

scientific article

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

scientific article

Characterization of CTNS mutations in Arab patients with cystinosis

scientific article published in December 2009

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation

scientific article published on 14 June 2013

Clinical Characterization of LRPAP1-Related Pediatric High Myopia

scientific article

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

scientific article published on 19 January 2012

Clinical characterisation of the CABP4-related retinal phenotype

scientific article published on 25 October 2012

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

scientific article published on 14 June 2013

Congenital glaucoma with acquired peripheral circumferential iris degeneration

scientific article published on 28 January 2013

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

scientific article

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

scientific article published in December 2015

Corneal decompensation in recessive cornea plana

scientific article published in September 2009

Elevation deficiency in children with recessive RDH12-related retinopathy

scientific article

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

scientific article published on 10 September 2015

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

scientific article

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

scientific article published on 24 July 2009

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

scientific article published on May 2017

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

scientific article published on 30 August 2012

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

scientific article published in March 2010

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

scientific article

In search of triallelism in Bardet–Biedl syndrome ⬇️

scientific article published on February 22, 2012

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis

scientific article

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

scientific article published in March 2010

Molecular characterization of Joubert syndrome in Saudi Arabia

scientific article published on 11 July 2012

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype

scientific article published on 9 February 2011

Molecular characterization of retinitis pigmentosa in Saudi Arabia

scientific article

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

scientific article

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome

scientific article (publication date: May 2014)

No evidence for locus heterogeneity in Knobloch syndrome

scientific article published on 10 May 2013

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

scientific article published on 22 November 2016

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

scientific article

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

scientific article published on 9 January 2012

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

scientific article

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

scientific article

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

scientific article

The RPGRIP1-related retinal phenotype in children

scientific article published on 16 March 2013

The distinct ophthalmic phenotype of Knobloch syndrome in children

scientific article published on 7 March 2012

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18

scientific article

List of works by Arif O. Khan

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

Characterization of CTNS mutations in Arab patients with cystinosis

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation

Clinical Characterization of LRPAP1-Related Pediatric High Myopia

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

Clinical characterisation of the CABP4-related retinal phenotype

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

Congenital glaucoma with acquired peripheral circumferential iris degeneration

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Corneal decompensation in recessive cornea plana

Elevation deficiency in children with recessive RDH12-related retinopathy

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

In search of triallelism in Bardet–Biedl syndrome ⬇️

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

Molecular characterization of Joubert syndrome in Saudi Arabia

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype

Molecular characterization of retinitis pigmentosa in Saudi Arabia

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome

No evidence for locus heterogeneity in Knobloch syndrome

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

The RPGRIP1-related retinal phenotype in children

The distinct ophthalmic phenotype of Knobloch syndrome in children

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18