Abou Jamra, Rami
Abou Jamra, Rami
Institute of Human Genetics, Leipzig
Verified email at - Homepage
Cited by
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A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
AE Baum, N Akula, M Cabanero, I Cardona, W Corona, B Klemens, ...
Molecular psychiatry 13 (2), 197-207, 2008
Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression
J Schumacher, R Abou Jamra, T Becker, S Ohlraun, N Klopp, EB Binder, ...
Biological psychiatry 58 (4), 307-314, 2005
Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder
J Schumacher, R Abon Jamra, J Freudenberg, T Becker, S Ohlraun, ...
Molecular psychiatry 9 (2), 203-207, 2004
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ...
European Journal of Human Genetics 25 (2), 176-182, 2017
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q
MB McQueen, B Devlin, SV Faraone, VL Nimgaonkar, P Sklar, ...
The American Journal of Human Genetics 77 (4), 582-595, 2005
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia
AM Hillmer, S Hanneken, S Ritzmann, T Becker, J Freudenberg, ...
The American Journal of Human Genetics 77 (1), 140-148, 2005
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
R Abou Jamra, O Philippe, A Raas-Rothschild, SH Eck, E Graf, R Buchert, ...
Am J Hum Genet 88, 788-795, 2011
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8
KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ...
The American Journal of Human Genetics 97 (6), 886-893, 2015
Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders
MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ...
JAMA psychiatry 74 (3), 293-299, 2017
NEK1 mutations cause short-rib polydactyly syndrome type majewski
C Thiel, K Kessler, A Giessl, A Dimmler, SA Shalev, S von der Haar, ...
The American Journal of Human Genetics 88 (1), 106-114, 2011
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification …
TG Schulze, S Ohlraun, PM Czerski, J Schumacher, L Kassem, ...
American Journal of Psychiatry 162 (11), 2101-2108, 2005
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder
S Cichon, I Winge, M Mattheisen, A Georgi, A Karpushova, J Freudenberg, ...
Human molecular genetics 17 (1), 87-97, 2008
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
NN Hauer, B Popp, E Schoeller, S Schuhmann, KE Heath, A Hisado-Oliva, ...
Genetics in Medicine 20 (6), 630-638, 2018
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
R Abou Jamra, S Wohlfart, M Zweier, S Uebe, L Priebe, A Ekici, ...
European Journal of Human Genetics 19 (11), 1161-1166, 2011
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency
R Buchert, H Tawamie, C Smith, S Uebe, AM Innes, B Al Hallak, AB Ekici, ...
The American Journal of Human Genetics 95 (5), 602-610, 2014
Loss of function of GALNT2 lowers high-density lipoproteins in humans, nonhuman primates, and rodents
SA Khetarpal, KT Schjoldager, C Christoffersen, A Raghavan, ...
Cell metabolism 24 (2), 234-245, 2016
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ...
The American Journal of Human Genetics 92 (4), 575-583, 2013
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