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Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R. Froukh T, et al. Among authors: abou jamra r. Clin Genet. 2020 Apr;97(4):621-627. doi: 10.1111/cge.13720. Epub 2020 Mar 1. Clin Genet. 2020. PMID: 32056211
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A. Abou Jamra R, et al. Eur J Hum Genet. 2011 Nov;19(11):1161-6. doi: 10.1038/ejhg.2011.98. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629298 Free PMC article.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R. Buchert R, et al. Among authors: abou jamra r. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439727 Free PMC article.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. Johansen A, et al. Among authors: abou jamra r. Am J Hum Genet. 2016 Oct 6;99(4):912-916. doi: 10.1016/j.ajhg.2016.07.019. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616480 Free PMC article.
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. Among authors: abou jamra r. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R. Tawamie H, et al. Among authors: abou jamra r. Am J Hum Genet. 2017 Mar 2;100(3):555-561. doi: 10.1016/j.ajhg.2017.01.032. Am J Hum Genet. 2017. PMID: 28257693 Free PMC article.
117 results