Routine Diagnostics Confirm Novel Neurodevelopmental Disorders

por Jauss, Robin-Tobias, Schließke, Sophia, Abou Jamra, Rami
Publicado 2022

P1377: TRANSCRIPTOME-WIDE ANALYSIS OF T CELLS DURING EX VIVO EXPANSION AS PER CURRENT CAR T CELL MANUFACTURING PROTOCOL REVEALS SPECIFIC CHANGES IN T CELL SIGNALING AND HOMING

por Sudarsanam, Harish, Radtke, Maximilian, Buhmann, Raymund, Vučinić, Vladan, Abou-Jamra, Rami, Henschler, Reinhard
Publicado 2023

A comprehensive global genotype–phenotype database for rare diseases

por Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt
Publicado 2016

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

por Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R., Beblo, Skadi, Popp, Bernt
Publicado 2021

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

por Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Abou Jamra, Rami
Publicado 2021

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

por 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
Publicado 2016

Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers

por Jönsson, Erik G, Bah, Jessica, Melke, Jonas, Abou Jamra, Rami, Schumacher, Johannes, Westberg, Lars, Ivo, Roland, Cichon, Sven, Propping, Peter, Nöthen, Markus M, Eriksson, Elias, Sedvall, Göran C
Publicado 2004

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

por Le Duc, Diana, Hentschel, Julia, Neuser, Sonja, Stiller, Mathias, Meier, Carolin, Jäger, Elisabeth, Abou Jamra, Rami, Platzer, Konrad, Monecke, Astrid, Ziemer, Mirjana, Markovic, Aleksander, Bläker, Hendrik, Lemke, Johannes R.
Publicado 2020

Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies

por 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
Publicado 2021

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo(D) co-CRISPR selection with sgRNA target site masking

por Götze, Katharina J, Mrestani, Achmed, Beckmann, Paula, Krohn, Knut, Le Duc, Diana, Velluva, Akhil, Böhme, Mathias A, Heckmann, Manfred, Abou Jamra, Rami, Lemke, Johannes R, Bläker, Hendrik, Scholz, Nicole, Ljaschenko, Dmitrij, Langenhan, Tobias
Publicado 2022

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

por Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt
Publicado 2021

Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity

por Kempf, Elena, Landgraf, Kathrin, Stein, Robert, Hanschkow, Martha, Hilbert, Anja, Abou Jamra, Rami, Boczki, Paula, Herberth, Gunda, Kühnapfel, Andreas, Tseng, Yu-Hua, Stäubert, Claudia, Schöneberg, Torsten, Kühnen, Peter, Rayner, N. William, Zeggini, Eleftheria, Kiess, Wieland, Blüher, Matthias, Körner, Antje
Publicado 2022

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

por Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Goldenberg, Alice, Gorman, Kathleen M., Molloy, Ben, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana, Kuismin, Outi, Marcelis, Carlo, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Julia, Sophie, Lemke, Johannes R., Abou Jamra, Rami, Platzer, Konrad
Publicado 2022

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

por 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
Publicado 2022

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

por 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
Publicado 2017

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

por Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Publicado 2019

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

por Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T
Publicado 2018

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

por 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., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.
Publicado 2020

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

por Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F
Publicado 2017