Ranad Shaheen
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View article: Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes Open
Background/Objectives: The clinical utility of reproductive carrier screening varies based on the genes tested, variant reporting policies, and the screened patient population. This study aims to evaluate the outcomes of carrier screening …
View article: Effect of Educational Program on Head Nurses' Counseling Knowledge and Skills
Effect of Educational Program on Head Nurses' Counseling Knowledge and Skills Open
View article: Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome Open
The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report…
View article: Complement C5a and Clinical Markers as Predictors of COVID-19 Disease Severity and Mortality in a Multi-Ethnic Population
Complement C5a and Clinical Markers as Predictors of COVID-19 Disease Severity and Mortality in a Multi-Ethnic Population Open
Coronavirus disease-2019 (COVID-19) was declared as a pandemic by WHO in March 2020. SARS-CoV-2 causes a wide range of illness from asymptomatic to life-threatening. There is an essential need to identify biomarkers to predict disease seve…
View article: WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium
WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium Open
The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many …
View article: Complement C5a and Clinical Markers to predict COVID-19 Disease Severity and Mortality in a Multi-ethnic Population
Complement C5a and Clinical Markers to predict COVID-19 Disease Severity and Mortality in a Multi-ethnic Population Open
Coronavirus disease-2019 (COVID-19) was declared as a pandemic by WHO in March 2020. SARS-CoV-2 causes a wide range of illness from asymptomatic to life-threatening. There is an essential need to identify biomarkers to predict disease seve…
View article: Populus ciliata conjugated of iron oxide nanoparticles and their potential antibacterial activities against human bacterial pathogens
Populus ciliata conjugated of iron oxide nanoparticles and their potential antibacterial activities against human bacterial pathogens Open
Green synthesis is gaining huge significance because of its environmentally harmonious nature and low cost. This is an important technique to synthesize metal oxide nanoparticles. In the current study, iron oxide nanoparticles (Fe2O3-NPs) …
View article: Mutations in phospholipase C eta-1 (<i>PLCH1</i>) are associated with holoprosencephaly
Mutations in phospholipase C eta-1 (<i>PLCH1</i>) are associated with holoprosencephaly Open
Background Holoprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon into two cerebral hemispheres. To date, dominant mutations in sonic hed…
View article: Correction to: Transcriptome of CD8+ tumor-infiltrating T cells: a link between diabetes and colorectal cancer
Correction to: Transcriptome of CD8+ tumor-infiltrating T cells: a link between diabetes and colorectal cancer Open
View article: Transcriptome of CD8+ tumor-infiltrating T cells: a link between diabetes and colorectal cancer
Transcriptome of CD8+ tumor-infiltrating T cells: a link between diabetes and colorectal cancer Open
View article: Corrigendum to: <i>YIF1B</i> mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
Corrigendum to: <i>YIF1B</i> mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations Open
National audience
View article: SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Open
View article: YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations Open
Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six …
View article: Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome Open
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-l…
View article: The morbid genome of ciliopathies: an update
The morbid genome of ciliopathies: an update Open
View article: ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability
ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability Open
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-…
View article: Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans Open
View article: PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly Open
View article: ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition Open
View article: Autozygome and high throughput confirmation of disease genes candidacy
Autozygome and high throughput confirmation of disease genes candidacy Open
Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing.
View article: Warsaw breakage syndrome: Further clinical and genetic delineation
Warsaw breakage syndrome: Further clinical and genetic delineation Open
Warsaw breakage syndrome (WBS) is a recently recognized DDX11 ‐related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing …
View article: Genomic and phenotypic delineation of congenital microcephaly
Genomic and phenotypic delineation of congenital microcephaly Open
View article: Expanding the phenome and variome of skeletal dysplasia
Expanding the phenome and variome of skeletal dysplasia Open
View article: Correction: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
Correction: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation Open
View article: Molecular autopsy in maternal–fetal medicine
Molecular autopsy in maternal–fetal medicine Open
View article: Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Open
View article: GWAS signals revisited using human knockouts
GWAS signals revisited using human knockouts Open
View article: Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish Open
View article: PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins Open
View article: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation Open