Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
- M. Reuter, Hasan Tawamie, R. Abou Jamra
- Medicine, PsychologyJAMA psychiatry
- 1 March 2017
Using exome sequencing as a first-line diagnostic approach in consanguineous families with neurodevelopmental disorders is recommended because of the high diagnostic yield of 36.8% and the possibility of identifying treatable diseases or the coexistence of several disease-causing variants.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
- R. Buchert, Hasan Tawamie, R. Abou Jamra
- Biology, MedicineAmerican Journal of Human Genetics
- 6 November 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
- L. Hansen, Hasan Tawamie, R. Abou Jamra
- BiologyAmerican Journal of Human Genetics
- 4 April 2013
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
- Y. Murakami, Hasan Tawamie, R. Jamra
- Biology, MedicinePLoS Genetics
- 1 May 2014
The results indicate that GPI-APs were expressed with abnormal GPI structure due to a null mutation in the remodeling gene PGAP1, and indicate that not only the cell surface expression levels but also the fine structure of G PI-anchors is important for the normal neurological development.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
- S. Volpi, M. Cicalese, T. Kuijpers
- MedicineJournal of Allergy and Clinical Immunology
- 1 June 2019
Recurrent null mutation in SPG20 leads to Troyer syndrome.
- Hasan Tawamie, E. Wohlleber, S. Uebe, C. Schmäl, M. Nöthen, R. Abou Jamra
- MedicineMolecular and Cellular Probes
- 1 October 2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
- L. Stephen, Hasan Tawamie, H. Bolz
- BiologyeLife
- 15 September 2015
It is proposed that JBTS and other ciliopathies may in part result from cell polarity defects, and loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites.
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
- R. Buchert, S. Uebe, R. Abou Jamra
- MedicineEuropean Journal of Medical Genetics
- 1 November 2013
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
- Hasan Tawamie, I. Martianov, R. Abou Jamra
- BiologyAmerican Journal of Human Genetics
- 2 March 2017
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
- Z. Iqbal, Hasan Tawamie, R. Abou Jamra
- BiologyGenetics in Medicine
- 4 January 2019
SVBP is not only involved in angiogenesis, but also has vital functions in the central nervous system and is associated with biallelic loss-of-function variants in SVBP that lead to intellectual disability.
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