Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus
Published in PLoS genetics (01.03.2010)
Published in PLoS genetics (01.03.2010)
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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans
Courtland, Jamie L, Bradshaw, Tyler Wa, Waitt, Greg, Soderblom, Erik J, Ho, Tricia, Rajab, Anna, Vancini, Ricardo, Kim, Il Hwan, Soderling, Scott H
Published in eLife (22.03.2021)
Published in eLife (22.03.2021)
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2
Rajab, Anna, van Bokhoven, Hans, Foulquier, Francois, Gruenewald, Stephanie, Lefeber, Dirk, Van Maldergem, Lionel, Morava, Eva, Reynders, Ellen, Urban, Zsolt, Wevers, Ron, Mundlos, Stefan, Annaert, Wim, Nürnberg, Peter, Kornak, Uwe, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Budde, Birgit, Brunner, Han G, Matthijs, Gert
Published in Nature genetics (01.01.2008)
Published in Nature genetics (01.01.2008)
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DALIA- a comprehensive resource of Disease Alleles in Arab population
Vatsyayan, Aastha, Sharma, Parul, Gupta, Shrey, Sandhu, Sumiti, Venu, Seetha Lakshmi, Sharma, Vandana, Badaoui, Bouabid, Azedine, Kaidi, Youssef, Serti, Rajab, Anna, Fayez, Alaaeldin, Madinur, Seema, Ranawat, Anop, Pandhare, Kavita, Ramachandran, Srinivasan, Sivasubbu, Sridhar, Scaria, Vinod
Published in PloS one (13.01.2021)
Published in PloS one (13.01.2021)
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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin
Nürnberg, Peter, Dallapiccola, Bruno, Tassabehji, May, Müller, Dietmar, Rajab, Anna, Kornak, Uwe, Budde, Birgit, Zampino, Giuseppe, Nätebus, Marc, Seifert, Wenke, Kaplan, Paige B, Egerer, Johannes, Newman, William, Barr, Francis A, Zhang, Xin, Fodale, Valentina, Hennies, Hans Christian, Mundlos, Stefan, Clayton-Smith, Jill, Wilcox, William R, Metcalfe, Kay, Brancati, Francesco, Kühnisch, Jirko, Zhang, Haikuo, Steinmann, Beat, Wieacker, Peter
Published in Nature genetics (01.12.2008)
Published in Nature genetics (01.12.2008)
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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
Ott, Claus-Eric, Fischer, Björn, Schröter, Phillipe, Richter, Reyk, Gupta, Neerja, Verma, Nishant, Kabra, Madhulika, Mundlos, Stefan, Rajab, Anna, Neitzel, Heidemarie, Kornak, Uwe
Published in Bone (New York, N.Y.) (01.08.2013)
Published in Bone (New York, N.Y.) (01.08.2013)
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Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement
Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan, McKusick, Victor A.
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.2004)
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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Huber, Céline, Delezoide, Anee-Lise, Guimiot, Fabien, Baumann, Clarisse, Malan, Valérie, Le Merrer, Martine, Da Silva, Daniela Bezerra, Bonneau, Dominique, Chatelain, Pierre, Chu, Carol, Clark, Robin, Cox, Helen, Edery, Patrick, Edouard, Thomas, Fano, Virginia, Gibson, Kate, Gillessen-Kaesbach, Gabriele, Giovannucci-Uzielli, Maria-Luisa, Graul-Neumann, Luitgard Margarete, van Hagen, Johana-Maria, van Hest, Liselot, Horovitz, Dafne, Melki, Judith, Partsch, Carl-Joachim, Plauchu, Henry, Rajab, Anna, Rossi, Massimiliano, Sillence, David, Steichen-Gersdorf, Elisabeth, Stewart, Helen, Unger, Sheila, Zenker, Martin, Munnich, Arnold, Cormier-Daire, Valérie
Published in European journal of human genetics : EJHG (01.03.2009)
Published in European journal of human genetics : EJHG (01.03.2009)
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Developmental and degenerative features in a complicated spastic paraplegia
Manzini, M. Chiara, Rajab, Anna, Maynard, Thomas M., Mochida, Ganeshwaran H., Tan, Wen-Hann, Nasir, Ramzi, Hill, R. Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N., Barry, Brenda J., Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A.
Published in Annals of neurology (01.04.2010)
Published in Annals of neurology (01.04.2010)
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Repository of mutations from Oman: The entry point to a national mutation database [version 1; peer review: 3 approved]
Rajab, Anna, Hamza, Nishath, Al Harasi, Salma, Al Lawati, Fatma, Gibbons, Una, Al Alawi, Intesar, Kobus, Karoline, Hassan, Suha, Mahir, Ghariba, Al Salmi, Qasim, Mons, Barend, Robinson, Peter
Published in F1000 research (2015)
Published in F1000 research (2015)
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Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients
Goud, Tadakal Mallana, Al Salmani, Kamla Khalfan, Al Harasi, Salma Mohammed, Al Musalhi, Muhanna, Wasifuddin, Shah Mohammed, Rajab, Anna
Published in Asian Pacific journal of cancer prevention : APJCP (2015)
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Published in Asian Pacific journal of cancer prevention : APJCP (2015)
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Dosage effect of zero to three functional LBR-genes in vivo and in vitro
Gravemann, Sophia, Schnipper, Nele, Meyer, Hannes, Vaya, Amparo, Nowaczyk, Malgorzata J.M., Rajab, Anna, Hofmann, Wolf-Karsten, Salewsky, Bastian, Tönnies, Holger, Neitzel, Heidemarie, Stassen, Hans H., Sperling, Karl, Hoffmann, Katrin
Published in Nucleus (Austin, Tex.) (01.03.2010)
Published in Nucleus (Austin, Tex.) (01.03.2010)
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, Hossein, Hu, Hao, Garshasbi, Masoud, Zemojtel, Tomasz, Abedini, Seyedeh Sedigheh, Chen, Wei, Hosseini, Masoumeh, Behjati, Farkhondeh, Haas, Stefan, Jamali, Payman, Zecha, Agnes, Mohseni, Marzieh, Püttmann, Lucia, Vahid, Leyla Nouri, Jensen, Corinna, Moheb, Lia Abbasi, Bienek, Melanie, Larti, Farzaneh, Mueller, Ines, Weissmann, Robert, Darvish, Hossein, Wrogemann, Klaus, Hadavi, Valeh, Lipkowitz, Bettina, Esmaeeli-Nieh, Sahar, Wieczorek, Dagmar, Kariminejad, Roxana, Firouzabadi, Saghar Ghasemi, Cohen, Monika, Fattahi, Zohreh, Rost, Imma, Mojahedi, Faezeh, Hertzberg, Christoph, Dehghan, Atefeh, Rajab, Anna, Banavandi, Mohammad Javad Soltani, Hoffer, Julia, Falah, Masoumeh, Musante, Luciana, Kalscheuer, Vera, Ullmann, Reinhard, Kuss, Andreas Walter, Tzschach, Andreas, Kahrizi, Kimia, Ropers, H. Hilger
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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