List of works - Ranad Shaheen

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

scientific article

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

scientific article

Novel CENPJ mutation causes Seckel syndrome

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

scientific article published on October 2012

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

scientific article (publication date: 12 August 2011)

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Genomic analysis of primordial dwarfism reveals novel disease genes

scientific article published on 03 January 2014

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

scientific article published on 5 May 2011

Emended descriptions of Clostridium acetobutylicum and Clostridium beijerinckii, and descriptions of Clostridium saccharoperbutylacetonicum sp. nov. and Clostridium saccharobutylicum sp. nov

scientific article published on November 1, 2001

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome

scientific article published on September 2009

Characterizing the morbid genome of ciliopathies.

scientific article

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

scientific article

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

scientific article

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

scientific article

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

scientific journal article

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

scientific article

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

scientific article published on 21 November 2012

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

scientific article published on 10 September 2015

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

scientific article

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

scientific article

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

scientific article published on August 2010

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

scientific article

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

scientific article published on 24 May 2013

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

scientific article

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

scientific article published on 20 April 2013

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

scientific article published on 6 October 2016

The genetic landscape of familial congenital hydrocephalus

scientific article published on 26 May 2017

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

scientific article

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

scientific journal article

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

scientific article published on 01 February 2009

Identification of a novel MKS locus defined by TMEM107 mutation

scientific article published on 29 June 2015

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

scientific article

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

scientific article published on 6 April 2017

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

scientific article published on 3 December 2015

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

scientific article published on 22 August 2013

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

scientific article

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

scientific article published on 11 September 2017

Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator

scientific article published on 28 September 2016

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

scientific article published on 14 June 2017

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

scientific article published on 8 August 2016

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

scientific article

Mutations in TMEM231 cause Meckel-Gruber syndrome

scientific article published on 24 January 2013

Molecular autopsy in maternal-fetal medicine

scientific article published on 27 July 2017

On the phenotypic spectrum of serine biosynthesis defects

scientific article published on 10 March 2016

Genomic and phenotypic delineation of congenital microcephaly

scientific article published on 14 September 2018

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy

scientific journal article

List of works by Ranad Shaheen

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

Novel CENPJ mutation causes Seckel syndrome

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Genomic analysis of primordial dwarfism reveals novel disease genes

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Emended descriptions of Clostridium acetobutylicum and Clostridium beijerinckii, and descriptions of Clostridium saccharoperbutylacetonicum sp. nov. and Clostridium saccharobutylicum sp. nov

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome

Characterizing the morbid genome of ciliopathies.

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

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

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

The genetic landscape of familial congenital hydrocephalus

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

Identification of a novel MKS locus defined by TMEM107 mutation

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

Mutations in TMEM231 cause Meckel-Gruber syndrome

Molecular autopsy in maternal-fetal medicine

On the phenotypic spectrum of serine biosynthesis defects

Genomic and phenotypic delineation of congenital microcephaly

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy