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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
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E, Landgraf K, Stein R, Hanschkow M, Hilbert A, Abou Jamra R, Boczki P, Herberth G, Kühnapfel A, Tseng YH, Stäubert C, Schöneberg T, Kühnen P, Rayner NW, Zeggini E, Kiess W, Blüher M, Körner A. Kempf E, et al. Among authors: abou jamra r. Nat Metab. 2022 Dec;4(12):1697-1712. doi: 10.1038/s42255-022-00703-9. Epub 2022 Dec 19. Nat Metab. 2022. PMID: 36536132 Free PMC article.
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Among authors: abou jamra r. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.
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.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hansen L, et al. Among authors: abou jamra r. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Am J Hum Genet. 2013. PMID: 23561846 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.
Recurrent null mutation in SPG20 leads to Troyer syndrome.
Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R. Tawamie H, et al. Among authors: abou jamra r. Mol Cell Probes. 2015 Oct;29(5):315-8. doi: 10.1016/j.mcp.2015.05.006. Epub 2015 May 20. Mol Cell Probes. 2015. PMID: 26003402
117 results