Works by Jamra, Rami Abou

Results: 48
    1

    Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
    By:
    • Ruault, Valentin;
    • Burger, Pauline;
    • Gradels‐Hauguel, Johanna;
    • Ruiz, Nathalie;
    • Jamra, Rami Abou;
    • Afenjar, Alexandra;
    • Alembik, Yves;
    • Alessandri, Jean‐Luc;
    • Arpin, Stéphanie;
    • Barcia, Giulia;
    • Bendová, Šárka;
    • Bruel, Ange‐Line;
    • Charles, Perrine;
    • Chatron, Nicolas;
    • Chopra, Maya;
    • Conrad, Solène;
    • Daire, Valérie Cormier;
    • Cospain, Auriane;
    • Coubes, Christine;
    • Coursimault, Juliette
    Publication type:
    Article
    2

    Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1388
    By:
    • Markus, Fenja;
    • Angelini, Chloé;
    • Trimouille, Aurelien;
    • Rudolf, Gabrielle;
    • Lesca, Gaetan;
    • Goizet, Cyril;
    • Lasseaux, Eulalie;
    • Arveiler, Benoit;
    • Slegtenhorst, Marjon;
    • Brooks, Alice S.;
    • Abou Jamra, Rami;
    • Korenke, Georg‐Christoph;
    • Neidhardt, John;
    • Owczarek‐Lipska, Marta
    Publication type:
    Article
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    Brief Report: No Association Between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin.

    Published in:
    Journal of Autism & Developmental Disorders, 2008, v. 38, n. 10, p. 1977, doi. 10.1007/s10803-008-0582-6
    By:
    • Schirmbeck, Frederike;
    • Georgi, Alexander;
    • Strohmaier, Jana;
    • Schmael, Christine;
    • Boesshenz, Katja V.;
    • Mühleisen, Thomas W.;
    • Herms, Stefan;
    • Hoffmann, Per;
    • Jamra, Rami Abou;
    • Schumacher, Johannes;
    • Maier, Wolfgang;
    • Propping, Peter;
    • Nöthen, Markus M.;
    • Cichon, Sven;
    • Rietschel, Marcella;
    • Schulze, Thomas G.
    Publication type:
    Article
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    Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo<sup>D</sup> co-CRISPR selection with sgRNA target site masking.

    Published in:
    Biology Methods & Protocols, 2022, v. 7, n. 1, p. 1, doi. 10.1093/biomethods/bpac003
    By:
    • Götze, Katharina J;
    • Mrestani, Achmed;
    • Beckmann, Paula;
    • Krohn, Knut;
    • Duc, Diana Le;
    • Velluva, Akhil;
    • Böhme, Mathias A;
    • Heckmann, Manfred;
    • Jamra, Rami Abou;
    • Lemke, Johannes R;
    • Bläker, Hendrik;
    • Scholz, Nicole;
    • Ljaschenko, Dmitrij;
    • Langenhan, Tobias
    Publication type:
    Article
    11

    Mood-incongruent psychosis in bipolar disorder: conditional linkage analysis shows genome-wide suggestive linkage at 1q32.3, 7p13 and 20q13.31.

    Published in:
    Bipolar Disorders, 2009, v. 11, n. 6, p. 610, doi. 10.1111/j.1399-5618.2009.00736.x
    By:
    • Hamshere, Marian L;
    • Schulze, Thomas G;
    • Schumacher, Johannes;
    • Corvin, Aiden;
    • Owen, Michael J;
    • Jamra, Rami Abou;
    • Propping, Peter;
    • Maier, Wolfgang;
    • Orozco y Diaz, Guillermo;
    • Mayoral, Fermin;
    • Rivas, Fabio;
    • Jones, Ian;
    • Jones, Lisa;
    • Kirov, George;
    • Gill, Michael;
    • Holmans, Peter A;
    • Nöthen, Markus M;
    • Cichon, Sven;
    • Rietschel, Marcella;
    • Craddock, Nick
    Publication type:
    Article
    12

    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699
    By:
    • Matricardi, Sara;
    • De Liso, Paola;
    • Freri, Elena;
    • Costa, Paola;
    • Castellotti, Barbara;
    • Magri, Stefania;
    • Gellera, Cinzia;
    • Granata, Tiziana;
    • Musante, Luciana;
    • Lesca, Gaetan;
    • Oertel, Julie;
    • Craiu, Dana;
    • Hammer, Trine B.;
    • Møller, Rikke S.;
    • Barisic, Nina;
    • Abou Jamra, Rami;
    • Polster, Tilman;
    • Vigevano, Federico;
    • Marini, Carla
    Publication type:
    Article
    13
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    RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56876-w
    By:
    • Dharmadhikari, Avinash V.;
    • Abad, Maria Alba;
    • Khan, Sheraz;
    • Maroofian, Reza;
    • Sands, Tristan T.;
    • Ullah, Farid;
    • Samejima, Itaru;
    • Shen, Yanwen;
    • Wear, Martin A.;
    • Moore, Kiara E.;
    • Kondakova, Elena;
    • Mitina, Natalia;
    • Schaub, Theres;
    • Lee, Grace K.;
    • Umandap, Christine H.;
    • Berger, Sara M.;
    • Iglesias, Alejandro D.;
    • Popp, Bernt;
    • Abou Jamra, Rami;
    • Gabriel, Heinz
    Publication type:
    Article
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    Smooth velvety hyperextensible skin in a young patient.

    Published in:
    Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 4, p. 504, doi. 10.1111/ddg.13480
    By:
    • Kratzsch, Johanna;
    • Abou Jamra, Rami;
    • Ziemer, Mirjana;
    • Simon, Jan‐Christoph;
    • Treudler, Regina
    Publication type:
    Article
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    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
    By:
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Isikay, Sedat;
    • Hertecant, Jozef;
    • Almannai, Mohammed;
    • Manickam, Kandamurugu;
    • Abou Jamra, Rami;
    • El‐Hattab, Ayman W.;
    • Rajah, Jaishen;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Karaca, Ender;
    • Bayram, Yavuz;
    • Punetha, Jaya;
    • Rosenfeld, Jill A.;
    • Jhangiani, Shalini N.;
    • Boerwinkle, Eric;
    • Akdemir, Zeynep C.;
    • Erdin, Serkan;
    • Hunter, Jill V.
    Publication type:
    Article
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    AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

    Published in:
    Nature Communications, 2017, v. 8, n. 7, p. 15910, doi. 10.1038/ncomms15910
    By:
    • Brechet, Aline;
    • Buchert, Rebecca;
    • Schwenk, Jochen;
    • Boudkkazi, Sami;
    • Zolles, Gerd;
    • Siquier-Pernet, Karine;
    • Schaber, Irene;
    • Bildl, Wolfgang;
    • Saadi, Abdelkrim;
    • Bole-Feysot, Christine;
    • Nitschke, Patrick;
    • Reis, Andre;
    • Sticht, Heinrich;
    • Al-Sanna'a, Nouriya;
    • Rolfs, Arndt;
    • Kulik, Akos;
    • Schulte, Uwe;
    • Colleaux, Laurence;
    • Abou Jamra, Rami;
    • Fakler, Bernd
    Publication type:
    Article
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    Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290
    By:
    • Averdunk, Luisa;
    • Al‐Thihli, Khalid;
    • Surowy, Harald;
    • Lüdecke, Hermann‐Josef;
    • Drechsler, Matthias;
    • Yigit, Gökhan;
    • Smorag, Lukasz;
    • Al Hallak, Bassam;
    • Li, Yun;
    • Altmüller, Janine;
    • Guthoff, Tanja;
    • Wallot, Michael;
    • Nürnberg, Peter;
    • Wollnik, Bernd;
    • Jamra, Rami Abou;
    • Al‐Maawali, Almundher;
    • Wieczorek, Dagmar
    Publication type:
    Article
    29

    The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
    By:
    • Popp, Bernt;
    • Brugger, Melanie;
    • Poschmann, Sibylle;
    • Bartolomaeus, Tobias;
    • Radtke, Maximilian;
    • Hentschel, Julia;
    • Di Donato, Nataliya;
    • Rump, Andreas;
    • Gburek‐Augustat, Janina;
    • Graf, Elisabeth;
    • Wagner, Matias;
    • Sorge, Ina;
    • Lemke, Johannes R;
    • Meitinger, Thomas;
    • Abou Jamra, Rami;
    • Strehlow, Vincent;
    • Brunet, Theresa
    Publication type:
    Article
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    Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 621, doi. 10.1111/cge.13720
    By:
    • Froukh, Tawfiq;
    • Nafie, Omar;
    • Al Hait, Sana' A. S.;
    • Laugwitz, Lucia;
    • Sommerfeld, Julia;
    • Sturm, Marc;
    • Baraghiti, Aya;
    • Issa, Tala;
    • Al‐Nazer, Anis;
    • Koch, Philipp A.;
    • Hanselmann, Johannes;
    • Kootz, Beate;
    • Bauer, Peter;
    • Al‐Ameri, Wael;
    • Abou Jamra, Rami;
    • Alfrook, Ayman J.;
    • Hamadallah, Moath;
    • Sofan, Linda;
    • Riess, Angelika;
    • Haack, Tobias B.
    Publication type:
    Article
    33

    The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 14, p. 2719, doi. 10.1093/hmg/ddp204
    By:
    • Schumacher, Johannes;
    • Laje, Gonzalo;
    • Jamra, Rami Abou;
    • Becker, Tim;
    • Mühleisen, Thomas W.;
    • Vasilescu, Catalina;
    • Mattheisen, Manuel;
    • Herms, Stefan;
    • Hoffmann, Per;
    • Hillmer, Axel M.;
    • Georgi, Alexander;
    • Herold, Christine;
    • Schulze, Thomas G.;
    • Propping, Peter;
    • Rietschel, Marcella;
    • McMahon, Francis J.;
    • Nöthen, Markus M.;
    • Cichon, Sven
    Publication type:
    Article
    34

    Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 1, p. 87
    By:
    • Cichon, Sven;
    • Winge, Ingeborg;
    • Mattheisen, Manuel;
    • Georgi, Alexander;
    • Karpushova, Anna;
    • Freudenberg, Jan;
    • Freudenberg-Hua, Yun;
    • Babadjanova, Gulia;
    • Van Den Bogaert, Ann;
    • Abramova, Lilia I.;
    • Kapiletti, Sofia;
    • Knappskog, Per M.;
    • McKinney, Jeffrey;
    • Maier, Wolfgang;
    • Abou Jamra, Rami;
    • Schulze, Thomas G.;
    • Schumacher, Johannes;
    • Propping, Peter;
    • Rietschel, Marcella;
    • Haavik, Jan
    Publication type:
    Article
    35

    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
    By:
    • Bassani, Sissy;
    • Chrast, Jacqueline;
    • Ambrosini, Giovanna;
    • Voisin, Norine;
    • Schütz, Frédéric;
    • Brusco, Alfredo;
    • Sirchia, Fabio;
    • Turban, Lydia;
    • Schubert, Susanna;
    • Abou Jamra, Rami;
    • Schlump, Jan-Ulrich;
    • DeMille, Desiree;
    • Bayrak-Toydemir, Pinar;
    • Nelson, Gary Rex;
    • Wong, Kristen Nicole;
    • Duncan, Laura;
    • Mosera, Mackenzie;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • Pfundt, Rolph
    Publication type:
    Article
    36

    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
    By:
    • Lin, Sheng-Jia;
    • Vona, Barbara;
    • Lau, Tracy;
    • Huang, Kevin;
    • Zaki, Maha S.;
    • Aldeen, Huda Shujaa;
    • Karimiani, Ehsan Ghayoor;
    • Rocca, Clarissa;
    • Noureldeen, Mahmoud M.;
    • Saad, Ahmed K.;
    • Petree, Cassidy;
    • Bartolomaeus, Tobias;
    • Abou Jamra, Rami;
    • Zifarelli, Giovanni;
    • Gotkhindikar, Aditi;
    • Wentzensen, Ingrid M.;
    • Liao, Mingjuan;
    • Cork, Emalyn Elise;
    • Varshney, Pratishtha;
    • Hashemi, Narges
    Publication type:
    Article
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    Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Radtke, Maximilian;
    • Lin, Chen-Ching;
    • Zacher, Pia;
    • Bartolomaeus, Tobias;
    • Kirstein, Anna S.;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Platzer, Konrad;
    • Teichmann, Anne-Christin;
    • Hentschel, Julia;
    • Langenhan, Tobias;
    • Lemke, Johannes R.;
    • Garten, Antje;
    • Abou Jamra, Rami;
    • Le Duc, Diana
    Publication type:
    Article
    39

    Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Radtke, Maximilian;
    • Lin, Chen-Ching;
    • Zacher, Pia;
    • Bartolomaeus, Tobias;
    • Kirstein, Anna S.;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Platzer, Konrad;
    • Teichmann, Anne-Christin;
    • Hentschel, Julia;
    • Langenhan, Tobias;
    • Lemke, Johannes R.;
    • Garten, Antje;
    • Abou Jamra, Rami;
    • Le Duc, Diana
    Publication type:
    Article
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    NDST1 missense mutations in autosomal recessive intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723
    By:
    • Reuter, Miriam S.;
    • Musante, Luciana;
    • Hu, Hao;
    • Diederich, Stefan;
    • Sticht, Heinrich;
    • Ekici, Arif B.;
    • Uebe, Steffen;
    • Wienker, Thomas F.;
    • Bartsch, Oliver;
    • Zechner, Ulrich;
    • Oppitz, Cornelia;
    • Keleman, Krystyna;
    • Jamra, Rami Abou;
    • Najmabadi, Hossein;
    • Schweiger, Susann;
    • Reis, André;
    • Kahrizi, Kimia
    Publication type:
    Article
    42

    Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3562, doi. 10.1093/brain/awae085
    By:
    • Bergner, Caroline G;
    • Breur, Marjolein;
    • Soto-Bernardini, M Clara;
    • Schäfer, Lisa;
    • Lier, Julia;
    • Duc, Diana Le;
    • Bundalian, Linnaeus;
    • Schubert, Susanna;
    • Brenner, David;
    • Kreuz, Friedmar R;
    • Schulte, Björn;
    • Waisfisz, Quinten;
    • Bugiani, Marianna;
    • Köhler, Wolfgang;
    • Sticht, Heinrich;
    • Jamra, Rami Abou;
    • Knaap, Marjo S van der
    Publication type:
    Article
    43

    Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

    Published in:
    2022
    By:
    • Bainbridge, Matthew N;
    • Mazumder, Aloran;
    • Ogasawara, Daisuke;
    • Jamra, Rami Abou;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Burglen, Lydie;
    • Cope, Heidi;
    • Crawford, Ali;
    • Derksen, Alexa;
    • Dure, Leon;
    • Gantz, Emily;
    • Koch-Hogrebe, Margarete;
    • Hurst, Anna C E;
    • Mahida, Sonal;
    • Marshall, Paige;
    • Micalizzi, Alessia;
    • Novelli, Antonio;
    • Peng, Hongfan;
    • Medicine, Rady Children's Institute for Genomic
    Publication type:
    journal article
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    Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

    Published in:
    2020
    By:
    • Zilmer, Monica;
    • Edmondson, Andrew C;
    • Khetarpal, Sumeet A;
    • Alesi, Viola;
    • Zaki, Maha S;
    • Rostasy, Kevin;
    • Madsen, Camilla G;
    • Lepri, Francesca R;
    • Sinibaldi, Lorenzo;
    • Cusmai, Raffaella;
    • Novelli, Antonio;
    • Issa, Mahmoud Y;
    • Fenger, Christina D;
    • Jamra, Rami Abou;
    • Reutter, Heiko;
    • Briuglia, Silvana;
    • Agolini, Emanuele;
    • Hansen, Lars;
    • Petäjä-Repo, Ulla E;
    • Hintze, John
    Publication type:
    journal article
    46

    Drosophila WDFY3/Bchs overexpression impairs neural function.

    Published in:
    Journal of Neurogenetics, 2025, v. 39, n. 1, p. 23, doi. 10.1080/01677063.2025.2465536
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Krohn, Knut;
    • Schön, Kathleen;
    • Schumann, Isabell;
    • Kromp, Jessica;
    • Thum, Andreas S.;
    • Garten, Antje;
    • Hentschel, Julia;
    • Abou Jamra, Rami;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Langenhan, Tobias;
    • Le Duc, Diana
    Publication type:
    Article
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