Scientific Publications

A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy

We examined a child from a consanguineous family who had amongst others short stature and narrow thorax. This is the first report of a human disease associated with IFT52. Read more!

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 polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. This is the first report of a human disease associated with IFT52.

Dysmorphology WES

Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, MD, Kadavigere, Rajagopal, MD

11 Feb, 2016

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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. Read more!

Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.

Dysmorphology Osteology WES

Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, MD, Kadavigere, Rajagopal, MD

31 Jan, 2016

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Broadening the Phenotypic Spectrum of Pathogenic LARP7 Variants: Two Cases with Intellectual Disability, Variable Growth Retardation and Distinct Facial Features

To further delineate the phenotype associated with LARP7 mutations, we report two additional cases originating from the Netherlands and Saudi Arabia. Read more!

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 the syndrome and contribute to the delineation of the phenotypic spectrum of LARP7 mutations.

Dysmorphology WES

Author(s): Rolfs, Prof. Arndt, MD, Hollink, Iris, PhD, Alfadhel, Majid, MD, Al-Wakeel, Anwar, MD, Ababneh, Farough, Pfundt, Rolph, PhD, de Man, Stella A., MD, Jamra, Rami Abou, MD, Bertoli-Avella, Aida M., MD, van de Laar, Ingrid, MD

25 Nov, 2015

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A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing

In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing. Read more!

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 linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing.

Dermatology WES

Author(s): Bastaki, Fatma, MD, Mohamed, Madiha, MD, Nair, Pratibha, Saif, Fatima, MD, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, PhD, Brandau, Oliver, MD, Hamzeh, Abdul Rezzak, PhD

25 Nov, 2015

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Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing

Genomics has the potential to transform the quality of life worldwide, allowing the widespread implementation of more tailored medical care. Read more!

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 significantly.

NGS WES

Author(s): Rolfs, Prof. Arndt, MD, Jamra, Rami Abou, MD, Trujillano, Daniel, PhD

03 Oct, 2015

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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.

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 homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms.

Metabolic Disorders Neurology WES

Author(s): Stephen, LA

14 Sep, 2015

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Scientific Publications

Curious About the Latest Scientific Discoveries?

A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy

A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy

Broadening the Phenotypic Spectrum of Pathogenic LARP7 Variants: Two Cases with Intellectual Disability, Variable Growth Retardation and Distinct Facial Features

A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing

Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing

TALPID3 Controls Centrosome

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