List of works - Ranad Shaheen

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature

scientific article published on 09 February 2012

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

scientific article published on 5 May 2011

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

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

scientific article published on 20 April 2013

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome

scientific article published on 23 July 2013

ADAT3-related intellectual disability: Further delineation of the phenotype

scientific article published on 3 February 2016

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

scientific article published on 27 September 2018

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

scientific article published on 3 December 2015

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

scientific article

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

scientific article published on 01 February 2009

Autozygome and high throughput confirmation of disease genes candidacy

scientific article published on 21 September 2018

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

scientific article

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

scientific article published on 6 April 2017

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

scientific article published on 21 March 2019

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

scientific article published on 08 October 2019

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia

scientific article published on 26 March 2019

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34

scientific article published on 29 July 2019

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

scientific article

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

scientific article published on 4 January 2018

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

scientific article published on 28 September 2016

Characterizing the morbid genome of ciliopathies. ⬇️

scientific article

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

scientific article

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

scientific article published on 26 May 2020

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

scientific article published on 20 June 2017

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

scientific article

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

scientific article published on 10 September 2015

Expanding the phenome and variome of skeletal dysplasia.

scientific article published on 5 April 2018

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

scientific journal article

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

scientific article published on August 2010

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

scientific article published on September 2009

GWAS signals revisited using human knockouts

scientific article published on 22 June 2017

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

scientific article published on 21 November 2012

Genomic analysis of primordial dwarfism reveals novel disease genes

scientific article published on 03 January 2014

Genomic and phenotypic delineation of congenital microcephaly

scientific article published on 14 September 2018

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

scientific article published on 30 May 2016

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures

scientific article

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.

scientific article published in May 2011

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

scientific article

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

scientific article

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

scientific article

Identification of a novel MKS locus defined by TMEM107 mutation

scientific article published on 29 June 2015

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

scientific article published on 6 October 2016

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

scientific article published on 22 May 2015

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

scientific article

Molecular autopsy in maternal-fetal medicine

scientific article published on 27 July 2017

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

scientific article

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

scientific article

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

scientific article

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

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

scientific article

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

scientific article published on 22 August 2013

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

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

scientific article

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

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

Mutations in TMEM231 cause Meckel-Gruber syndrome

scientific article published on 24 January 2013

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

scientific article published on 11 September 2017

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

scientific article

Novel CENPJ mutation causes Seckel syndrome

scientific article

On the phenotypic spectrum of serine biosynthesis defects

scientific article published on 10 March 2016

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

scientific article published on 10 April 2017

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

scientific article

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

scientific article published on 18 February 2019

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

scientific article published on 23 February 2015

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)

Reply to "an extremely severe phenotype due to WDR81 nonsense mutations"

scientific article published on 10 October 2017

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

scientific article published on 4 July 2015

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

scientific article published on 07 December 2020

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

scientific article published on October 2012

T (brachyury) is linked to a Mendelian form of neural tube defects in humans

scientific article

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

scientific article

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

scientific article published on 11 December 2014

The genetic landscape of familial congenital hydrocephalus

scientific article published on 26 May 2017

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

scientific article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

scientific article published on 18 December 2018

The morbid genome of ciliopathies: an update

scientific article published on 14 February 2020

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

scientific article published on 2 August 2016

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype

scientific article published on 17 January 2012

Variable phenotypic expression of COG6 mutations

scientific article published on 25 March 2014

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

scientific article published on 24 May 2013

Warsaw breakage syndrome: Further clinical and genetic delineation

scientific article published on 14 September 2018

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

scientific article published on 01 October 2020

List of works by Ranad Shaheen

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

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

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

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome

ADAT3-related intellectual disability: Further delineation of the phenotype

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

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

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

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

Autozygome and high throughput confirmation of disease genes candidacy

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

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

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34

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

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

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

Characterizing the morbid genome of ciliopathies. ⬇️

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

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

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

Expanding the phenome and variome of skeletal dysplasia.

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

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

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

GWAS signals revisited using human knockouts

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

Genomic analysis of primordial dwarfism reveals novel disease genes

Genomic and phenotypic delineation of congenital microcephaly

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.

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

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

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

Identification of a novel MKS locus defined by TMEM107 mutation

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

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

Molecular autopsy in maternal-fetal medicine

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

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

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

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

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

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

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

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

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

Mutations in TMEM231 cause Meckel-Gruber syndrome

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

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

Novel CENPJ mutation causes Seckel syndrome

On the phenotypic spectrum of serine biosynthesis defects

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

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

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

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

Reply to "an extremely severe phenotype due to WDR81 nonsense mutations"

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

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

T (brachyury) is linked to a Mendelian form of neural tube defects in humans

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

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

The genetic landscape of familial congenital hydrocephalus

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

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

The morbid genome of ciliopathies: an update