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Articles by Abou Jamra
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles - Genome Medicine
SB, JC, NV, and BY engineered and phenotyped animal and cell models. GA, FS, and CI analyzed transcriptomes profiles. NG 3D-modeled missense variants. AB, FS, LT, SS, RAJ, J-US, DD, PB-T, GRN, KNW, LD, MM, CG, LELMV, RP, RK, HY, GÅMH, CJ, MFS, KMB, MJL, CMBC, CZ, JRL, LP, LF-G, RM-T, FP, AT, HZE, LM, MK, OK, JH, MS, MI, FO, FZ, KW, AM, MKH, PP, HA, AJAK, and CC collected clinical information and genomic DNAs, sequenced and analyzed exomes and/or genomes.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity - Genome Medicine
As part of an effort to investigate the association of biallelic OGDHL variants with human disorders, we applied a genotype-first approach to screen a large set of sequencing data from different diagnostic and research genetic labs including Centogene, GeneDx, Baylor Genetics, Invitae, 3billion lab, 100,000 Genomes Project, UCL Queen Square Genomics (QSG), ClinVar, DECIPHER, DDD, Geno2MP, and many other smaller databases.
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders
This is an early access version, the complete PDF, HTML, and XML versions will be available soon. Open AccessArticle by Robin-Tobias Jauss *, Sophia Schließke and Rami Abou Jamra Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Straße 55, 04103 Leipzig, Germany * Author to whom correspondence should be addressed.
De novo variants in neurodevelopmental disorders with epilepsy
Heyne, HO; Singh, T; Stamberger, H; Abou Jamra, R; Caglayan, H; Craiu, D; De Jonghe, P; ...
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
The cDNAs used were all verified by sequencing and had the following GenBank (www.ncbi.nlm.nih.gov/genbank) accession numbers: M38060.1 (GluA1i, flip variant of GluA1), NM_017261.2 (GluA2i), NM_053351 (TARP-2), NM_001025132 (CNIH-2), AF357970.1 (CPT1c), NM_014334 (FRRS1l), and BC117752.1 (Sac1). Affinity purification from brain membranes.
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