A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
JAMRA, Rami Abou, PHILIPPE, Orianne, MUNNICH, Arnold, STROM, Tim M, REIS, Andre, COLLEAUX, Laurence, RAAS-ROTHSCHILD, Annick, ECK, Sebastian H, GRAF, Elisabeth, BUCHERT, Rebecca, BORCK, Guntram, EKICI, Arif, BROCKSCHMIDT, Felix F, NÖTHEN, Markus M
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B., Gleeson, Joseph G., Abou Jamra, Rami
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
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, Abou Jamra, Rami, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petäjä-Repo, Ulla E, Hintze, John, Raymond, Kimiyo M, Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G, Vitali, Cecilia, O'Brien, W Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J, Schjoldager, Katrine T, Møller, Rikke S
Published in Brain (London, England : 1878) (01.04.2020)
Published in Brain (London, England : 1878) (01.04.2020)
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Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M., Bennett, Eric P., Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, Abou Jamra, Rami
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy
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
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.
Published in Scientific reports (22.09.2017)
Published in Scientific reports (22.09.2017)
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Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Abou Jamra, Rami
Published in European journal of human genetics : EJHG (01.05.2021)
Published in European journal of human genetics : EJHG (01.05.2021)
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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
Thiel, Christian, Kessler, Kristin, Giessl, Andreas, Dimmler, Arno, Shalev, Stavit A., von der Haar, Sigrun, Zenker, Martin, Zahnleiter, Diana, Stöss, Hartmut, Beinder, Ernst, Abou Jamra, Rami, Ekici, Arif B., Schröder-Kreß, Nadja, Aigner, Thomas, Kirchner, Thomas, Reis, André, Brandstätter, Johann H., Rauch, Anita
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm, Fanny, Jamra, Rami Abou, Alawi, Malik, Berry, Susan A, Borck, Guntram, Helbig, Katherine L, Tang, Sha, Huhle, Dagmar, Korenke, Georg Christoph, Hebbar, Malavika, Shukla, Anju, Girisha, Katta M, Steinlin, Maja, Waldmeier-Wilhelm, Sandra, Montomoli, Martino, Guerrini, Renzo, Lemke, Johannes R, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
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
Published in Clinical genetics (01.04.2023)
Published in Clinical genetics (01.04.2023)
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KDM5A mutations identified in autism spectrum disorder using forward genetics
El Hayek, Lauretta, Tuncay, Islam Oguz, Nijem, Nadine, Russell, Jamie, Ludwig, Sara, Kaur, Kiran, Li, Xiaohong, Anderton, Priscilla, Tang, Miao, Gerard, Amanda, Heinze, Anja, Zacher, Pia, Alsaif, Hessa S, Rad, Aboulfazl, Hassanpour, Kazem, Abbaszadegan, Mohammad Reza, Washington, Camerun, DuPont, Barbara R, Louie, Raymond J, Couse, Madeline, Faden, Maha, Rogers, R Curtis, Abou Jamra, Rami, Elias, Ellen R, Maroofian, Reza, Houlden, Henry, Lehman, Anna, Beutler, Bruce, Chahrour, Maria H
Published in eLife (22.12.2020)
Published in eLife (22.12.2020)
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QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum
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
Published in Clinical genetics (01.01.2021)
Published in Clinical genetics (01.01.2021)
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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
Hauer, Nadine N, Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S, Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B, De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R, Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T
Published in European journal of human genetics : EJHG (01.07.2019)
Published in European journal of human genetics : EJHG (01.07.2019)
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PET/MRI Delivers Multimodal Brain Signature in Alzheimer's Disease with De Novo PSEN1 Mutation
Aghakhanyan, Gayane, Saur, Dorothee, Rullmann, Michael, Weise, Christopher M, Schroeter, Matthias L, Marek, Ken, Jamra, Rami Abou, Tiepolt, Solveig, Strauss, Maria, Scherlach, Cordula, Hoffmann, Karl-Titus, Sabri, Osama, Classen, Joseph, Barthel, Henryk
Published in Current Alzheimer research (01.01.2021)
Published in Current Alzheimer research (01.01.2021)
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