List of works - Ranad Shaheen

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

scientific article

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

scientific article

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome

scientific article published on 23 July 2013

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

scientific article published on 23 February 2015

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

scientific article published on 09 February 2012

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

scientific article published on 11 December 2014

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

scientific article published on 10 April 2017

Autozygome and high throughput confirmation of disease genes candidacy

scientific article published on 21 September 2018

ADAT3-related intellectual disability: Further delineation of the phenotype

scientific article published on 3 February 2016

Warsaw breakage syndrome: Further clinical and genetic delineation

scientific article published on 14 September 2018

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

scientific article

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

scientific article published on 18 February 2019

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

scientific article published on 27 September 2018

Expanding the phenome and variome of skeletal dysplasia.

scientific article published on 5 April 2018

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

scientific article published on 22 May 2015

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

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

scientific article

GWAS signals revisited using human knockouts

scientific article published on 22 June 2017

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

scientific article published on 4 July 2015

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

scientific article

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

scientific article published on 18 December 2018

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

scientific article published on 29 July 2019

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

scientific article published on 08 October 2019

Variable phenotypic expression of COG6 mutations

scientific article published on March 25, 2014

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

scientific article published on 26 March 2019

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

scientific article published on 4 January 2018

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

scientific article published on 20 June 2017

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

scientific article published on 30 May 2016

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

scientific article published on 21 March 2019

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

scientific article published on 10 October 2017

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

scientific article published on 07 December 2020

The morbid genome of ciliopathies: an update

scientific article published on 14 February 2020

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

scientific article published on 26 May 2020

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

scientific article published on 17 January 2012

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

scientific article published in May 2011

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

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

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

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome

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

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

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

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

Autozygome and high throughput confirmation of disease genes candidacy

ADAT3-related intellectual disability: Further delineation of the phenotype

Warsaw breakage syndrome: Further clinical and genetic delineation

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

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

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Expanding the phenome and variome of skeletal dysplasia.

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

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

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

GWAS signals revisited using human knockouts

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

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

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

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

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

Variable phenotypic expression of COG6 mutations

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

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

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

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

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

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

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

The morbid genome of ciliopathies: an update

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

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

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

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