Scientific Publications
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Guidelines for Diagnostic Next-Generation Sequencing
The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients’ representatives, and other stakeholders in the field […]
Novel GNB1 Missense Mutation in a Patient with Generalized Dystonia, Hypotonia, and Intellectual Disability
Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 […]
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)
Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live […]
A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial […]
A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.
Broadening the Phenotypic Spectrum of Pathogenic LARP7 Variants: Two Cases with Intellectual Disability, Variable Growth Retardation and Distinct Facial Features
In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. Our cases broaden the associated clinical features of […]
A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are […]
Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing
During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed […]
TALPID3 Controls Centrosome
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By […]