Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations by 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

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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans by Courtland, Jamie L, Bradshaw, Tyler Wa, Waitt, Greg, Soderblom, Erik J, Ho, Tricia, Rajab, Anna, Vancini, Ricardo, Kim, Il Hwan, Soderling, Scott H

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DALIA- a comprehensive resource of Disease Alleles in Arab population by 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

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A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes by Schwarzer, Wibke, Witte, Florian, Rajab, Anna, Mundlos, Stefan, Stricker, Sigmar

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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus by 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

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Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement by Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan, McKusick, Victor A.

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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1 by Ott, Claus-Eric, Fischer, Björn, Schröter, Phillipe, Richter, Reyk, Gupta, Neerja, Verma, Nishant, Kabra, Madhulika, Mundlos, Stefan, Rajab, Anna, Neitzel, Heidemarie, Kornak, Uwe

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome by 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

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Developmental and degenerative features in a complicated spastic paraplegia by 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.

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Synaptic, transcriptional and chromatin genes disrupted in autism by De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma’ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Jeremy Willsey, A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.

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Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman by Rajab, Anna, Kornak, U., Budde, B. S., Hoffmann, K., Jaeken, J., Nürnberg, P., Mundlos, S.

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Repository of mutations from Oman: The entry point to a national mutation database [version 1; peer review: 3 approved] by 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

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders by 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

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Dosage effect of zero to three functional LBR-genes in vivo and in vitro by 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

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Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP by ROPERS, Fabienne, DERIVERY, Emmanuel, VARON, Raymonda, RAJAB, Anna, HAO HU, GARSHASBI, Masoud, KARBASIYAN, Mohsen, HEROLD, Martin, NÜRNBERG, Gudrun, ULLMANN, Reinhard, GAUTREAU, Alexis, SPERLING, Karl

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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment by Zollo, Massimo, Ahmed, Mustafa, Ferrucci, Veronica, Salpietro, Vincenzo, Asadzadeh, Fatemeh, Carotenuto, Marianeve, Maroofian, Reza, Al-Amri, Ahmed, Singh, Royana, Scognamiglio, Iolanda, Mojarrad, Majid, Musella, Luca, Duilio, Angela, Di Somma, Angela, Karaca, Ender, Rajab, Anna, Al-Khayat, Aisha, Mohan Mohapatra, Tribhuvan, Eslahi, Atieh, Ashrafzadeh, Farah, Rawlins, Lettie E, Prasad, Rajniti, Gupta, Rashmi, Kumari, Preeti, Srivastava, Mona, Cozzolino, Flora, Kumar Rai, Sunil, Monti, Maria, Harlalka, Gaurav V, Simpson, Michael A, Rich, Philip, Al-Salmi, Fatema, Patton, Michael A, Chioza, Barry A, Efthymiou, Stephanie, Granata, Francesca, Di Rosa, Gabriella, Wiethoff, Sarah, Borgione, Eugenia, Scuderi, Carmela, Mankad, Kshitij, Hanna, Michael G, Pucci, Piero, Houlden, Henry, Lupski, James R, Crosby, Andrew H, Baple, Emma L

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Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination by Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.

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Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman by Al-Alawi, Intisar, Goud, Tadakal Mallana, Al-Harasi, Salma, Rajab, Anna

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Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome by Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features by Ouyang, Qing, Nakayama, Tojo, Baytas, Ozan, Davidson, Shawn M., Yang, Chendong, Schmidt, Michael, Lizarraga, Sofia B., Mishra, Sasmita, EI-Quessny, Malak, Niaz, Saima, Butt, Mirrat Gul, Murtaza, Syed Imran, Javed, Afzal, Chaudhry, Haroon Rashid, Vaughan, Dylan J., Hill, R. Sean, Partlow, Jennifer N., Yoo, Seung-Yun, Lam, Anh-Thu N., Nasir, Ramzi, Al-Saffar, Muna, Barkovich, A. James, Schwede, Matthew, Nagpal, Shailender, Rajab, Anna, DeBerardinis, Ralph J., Housman, David E., Mochida, Ganeshwaran H., Morrow, Eric M.

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