Works by Jamra, Rami Abou

Results: 47

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1795, doi. 10.1002/humu.24451
By:
- Lieberwirth, Johann Kaspar;
- Büttner, Benjamin;
- Klöckner, Chiara;
- Platzer, Konrad;
- Popp, Bernt;
- Abou Jamra, Rami
Publication type:
Article
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 270, doi. 10.1002/humu.22737
By:
- Riecken, Lars Björn;
- Tawamie, Hasan;
- Dornblut, Carsten;
- Buchert, Rebecca;
- Ismayel, Amina;
- Schulz, Alexander;
- Schumacher, Johannes;
- Sticht, Heinrich;
- Pohl, Katja J.;
- Cui, Yan;
- Reis, André;
- Morrison, Helen;
- Abou Jamra, Rami
Publication type:
Article
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.
Published in:
Human Genetics, 2024, v. 143, n. 12, p. 1459, doi. 10.1007/s00439-024-02711-z
By:
- Jauss, Robin-Tobias;
- Popp, Bernt;
- Bachmann, Joachim;
- Abou Jamra, Rami;
- Platzer, Konrad
Publication type:
Article
Genetische Diagnostik im klinischen Alltag der Kinder- und Jugendpsychiatrie – Indikationen, Rahmenbedingungen, Hürden und Lösungsvorschläge.
Published in:
Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2024, v. 52, n. 1, p. 43, doi. 10.1024/1422-4917/a000941
By:
- Degenhardt, Franziska;
- Wohlleber, Eva;
- Jamra, Rami Abou;
- Hebebrand, Johannes
Publication type:
Article
No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.
Published in:
Human Genetics, 2003, v. 114, n. 1, p. 115, doi. 10.1007/s00439-003-1022-5
By:
- Schumacher, Johannes;
- Otte, Andreas C. J.;
- Becker, Tim;
- Sun, Yuli;
- Wienker, Thomas F.;
- Wirth, Brunhilde;
- Franke, Petra;
- Abou Jamra, Rami;
- Propping, Peter;
- xFC;rgen#Deckert, J&;
- Nöthen, Markus M.;
- Cichon, Sven
Publication type:
Article
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
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
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
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
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
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
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Published in:
Genes, 2023, v. 14, n. 1, p. 30, doi. 10.3390/genes14010030
By:
- Halfmeyer, Insa;
- Bartolomaeus, Tobias;
- Popp, Bernt;
- Radtke, Maximilian;
- Helms, Tobias;
- Hentschel, Julia;
- Popp, Denny;
- Jamra, Rami Abou
Publication type:
Article
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Published in:
Genes, 2022, v. 13, n. 12, p. 2305, doi. 10.3390/genes13122305
By:
- Jauss, Robin-Tobias;
- Schließke, Sophia;
- Abou Jamra, Rami
Publication type:
Article
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.
Published in:
European Journal of Endocrinology, 2019, v. 180, n. 1, p. K1, doi. 10.1530/EJE-18-0601
By:
- Rockstroh, Denise;
- Pfäffle, Heike;
- Le Duc, Diana;
- Rößler, Franziska;
- Schlensog-Schuster, Franziska;
- Heiker, John T.;
- Kratzsch, Jürgen;
- Kiess, Wieland;
- Lemke, Johannes R.;
- Jamra, Rami Abou;
- Pfäffle, Roland
Publication type:
Article
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
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Published in:
Annals of Neurology, 2022, v. 92, n. 6, p. 958, doi. 10.1002/ana.26485
By:
- Platzer, Konrad;
- Sticht, Heinrich;
- Bupp, Caleb;
- Ganapathi, Mythily;
- Pereira, Elaine M.;
- Le Guyader, Gwenaël;
- Bilan, Frederic;
- Henderson, Lindsay B.;
- Lemke, Johannes R.;
- Taschenberger, Holger;
- Brose, Nils;
- Abou Jamra, Rami;
- Wojcik, Sonja M.
Publication type:
Article
De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity.
Published in:
Molecular & Cellular Biology, 2024, v. 44, n. 11, p. 473, doi. 10.1080/10985549.2024.2391829
By:
- Takatsu, Hiroyuki;
- Nishimura, Narumi;
- Kosugi, Yusuke;
- Ogawa, Haruo;
- Nakayama, Kazuhisa;
- Colin, Estelle;
- Platzer, Konrad;
- Abou Jamra, Rami;
- Redler, Silke;
- Prouteau, Clément;
- Ziegler, Alban;
- Shin, Hye-Won
Publication type:
Article
A comprehensive global genotype-phenotype database for rare diseases.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 66, doi. 10.1002/mgg3.262
By:
- Trujillano, Daniel;
- Oprea, Gabriela‐Elena;
- Schmitz, Yvonne;
- Bertoli‐Avella, Aida M.;
- Abou Jamra, Rami;
- Rolfs, Arndt
Publication type:
Article
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
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
Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Published in:
Clinical Genetics, 2021, v. 99, n. 4, p. 565, doi. 10.1111/cge.13916
By:
- Wegler, Meret;
- Roth, Christian;
- Schumann, Eckehard;
- Kogan, Jillene;
- Totten, Ellen;
- Guillen Sacoto, Maria J.;
- Abou Jamra, Rami;
- Hornemann, Frauke
Publication type:
Article
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.
Published in:
Clinical Genetics, 2021, v. 99, n. 1, p. 199, doi. 10.1111/cge.13853
By:
- Föhrenbach, Melanie;
- Jamra, Rami Abou;
- Borkhardt, Arndt;
- Brozou, Triantafyllia;
- Muschke, Petra;
- Popp, Bernt;
- Rey, Linda K.;
- Schaper, Jörg;
- Surowy, Harald;
- Zenker, Martin;
- Zweier, Christiane;
- Wieczorek, Dagmar;
- Redler, Silke
Publication type:
Article
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
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
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
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Published in:
2020
By:
- Schneeberger, Pauline E;
- Kortüm, Fanny;
- Korenke, Georg Christoph;
- Alawi, Malik;
- Santer, René;
- Woidy, Mathias;
- Buhas, Daniela;
- Fox, Stephanie;
- Juusola, Jane;
- Alfadhel, Majid;
- Webb, Bryn D;
- Coci, Emanuele G;
- Jamra, Rami Abou;
- Siekmeyer, Manuela;
- Biskup, Saskia;
- Heller, Corina;
- Maier, Esther M;
- Javaher-Haghighi, Poupak;
- Bedeschi, Maria F;
- Ajmone, Paola F
Publication type:
journal article
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
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy.
Published in:
PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004320
By:
- Murakami, Yoshiko;
- Tawamie, Hasan;
- Maeda, Yusuke;
- Büttner, Christian;
- Buchert, Rebecca;
- Radwan, Farah;
- Schaffer, Stefanie;
- Sticht, Heinrich;
- Aigner, Michael;
- Reis, André;
- Kinoshita, Taroh;
- Jamra, Rami Abou
Publication type:
Article
Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review.
Published in:
Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 965, doi. 10.1002/mdc3.13087
By:
- Gburek‐Augustat, Janina;
- Heinze, Anja;
- Abou Jamra, Rami;
- Merkenschlager, Andreas
Publication type:
Article
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
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
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
Published in:
Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0509-9
By:
- Buchert, Rebecca;
- Nesbitt, Addie I.;
- Tawamie, Hasan;
- Krantz, Ian D.;
- Medne, Livija;
- Helbig, Ingo;
- Matalon, Dena R.;
- Reis, André;
- Santani, Avni;
- Sticht, Heinrich;
- Abou Jamra, Rami
Publication type:
Article
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies.
Published in:
BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08125-9
By:
- Velluva, Akhil;
- Radtke, Maximillian;
- Horn, Susanne;
- Popp, Bernt;
- Platzer, Konrad;
- Gjermeni, Erind;
- Lin, Chen-Ching;
- Lemke, Johannes R.;
- Garten, Antje;
- Schöneberg, Torsten;
- Blüher, Matthias;
- Abou Jamra, Rami;
- Le Duc, Diana
Publication type:
Article
The Role of Periodontal Ligament Cells in Delayed Tooth Eruption in Patients with Cleidocranial Dysostosis*.
Published in:
Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie, 2009, v. 70, n. 6, p. 495, doi. 10.1007/s00056-009-9934-x
By:
- Lossdörfer, Stefan;
- Abou Jamra, Bassel;
- Rath-Deschner, Birgit;
- Götz, Werner;
- Abou Jamra, Rami;
- Braumann, Bert;
- Jäger, Andreas
Publication type:
Article
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
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
Genes and Schizophrenia: The G72/G30 Gene Locus in Psychiatric Disorders: A Challenge to Diagnostic Boundaries?
Published in:
Schizophrenia Bulletin, 2006, v. 32, n. 4, p. 599
By:
- Abou Jamra, Rami;
- Schmael, Christine;
- Cichon, Sven;
- Rietschel, Marcella;
- Schumacher, Johannes;
- Nöthen, Markus M.
Publication type:
Article
Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.
Published in:
BMC Psychiatry, 2004, v. 4, p. 4, doi. 10.1186/1471-244X-4-4
By:
- Jönsson, Erik G.;
- Bah, Jessica;
- Melke, Jonas;
- Jamra, Rami Abou;
- Schumacher, Johannes;
- Westberg, Lars;
- Ivo, Roland;
- Cichon, Sven;
- Propping, Peter;
- Nöthen, Markus M.;
- Eriksson, Elias;
- Sedvall, Göran C.
Publication type:
Article
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
Samtig‐weiche hyperelastische Haut bei einem jungen Patienten.
Published in:
Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 4, p. 504, doi. 10.1111/ddg.13480_g
By:
- Kratzsch, Johanna;
- Abou Jamra, Rami;
- Ziemer, Mirjana;
- Simon, Jan-Christoph;
- Treudler, Regina
Publication type:
Article
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
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
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
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Published in:
Molecular Syndromology, 2015, v. 6, n. 2, p. 58, doi. 10.1159/000371399
By:
- Hoffjan, Sabine;
- Epplen, Jörg T.;
- Reis, André;
- Abou Jamra, Rami
Publication type:
Article
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2534, doi. 10.1002/ajmg.a.38345
By:
- Horn, Denise;
- Siebert, Eberhard;
- Seidel, Ulrich;
- Rost, Imma;
- Mayer, Karin;
- Abou Jamra, Rami;
- Mitter, Diana;
- Kornak, Uwe
Publication type:
Article
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
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