CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 von Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan

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LC‐MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice‐acceptor site mutation in the SLC7A9 gene von Al‐Dirbashi, O. Y., Abu‐Amero, K. K., Alswaid, A. F., Hoffmann, G. F., Al‐Qahtani, K., Rashed, M. S.

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Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study von Alshamlani, Lamia K, Alsulaim, Dana S, Alabbad, Raghad S, Alhoshan, Ahad A, Alkhoder, Joud F, Alsaleh, Norah S, Almannai, Mohammed, Ababneh, Faroug, Algattan, Manal, Alsini, Lojain, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M, Al Mutairi, Fuad, Umair, Muhammad, Alfadhel, Majid

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LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene: Neonata... von AL-DIRBASHI, O. Y, ABU-AMERO, K. K, ALSWAID, A. F, HOFFMANN, G. F, AL-QAHTANI, K, RASHED, M. S

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Searching for evidence of DFNB2 von Astuto, Lisa M., Kelley, Philip M., Askew, James W., Weston, Michael D., Smith, Richard J.H., Alswaid, Abdulrahman F., Al-Rakaf, Mona, Kimberling, William J.

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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations von Wang, Zheng, Iida, Aritoshi, Miyake, Noriko, Nishiguchi, Koji M, Fujita, Kosuke, Nakazawa, Toru, Alswaid, Abdulrahman, Albalwi, Mohammed A, Kim, Ok-Hwa, Cho, Tae-Joon, Lim, Gye-Yeon, Isidor, Bertrand, David, Albert, Rustad, Cecilie F, Merckoll, Else, Westvik, Jostein, Stattin, Eva-Lena, Grigelioniene, Giedre, Kou, Ikuyo, Nakajima, Masahiro, Ohashi, Hirohumi, Smithson, Sarah, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro

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Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes von Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Hijazi, Hadia, Al-Owain, Mohammed, Alswaid, Abdulrahman, Alkuraya, Fowzan S

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism von Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans von Szenker-Ravi, Emmanuelle, Ott, Tim, Yusof, Amirah, Chopra, Maya, Khatoo, Muznah, Pak, Beatrice, Xuan Goh, Wei, Beckers, Anja, Brady, Angela F, Ewans, Lisa J, Djaziri, Nabila, Almontashiri, Naif A M, Alghamdi, Malak Ali, Alharby, Essa, Dasouki, Majed, Romo, Lindsay, Tan, Wen-Hann, Maddirevula, Sateesh, Alkuraya, Fowzan S, Giordano, Jessica L, Alkelai, Anna, Wapner, Ronald J, Stals, Karen, Alfadhel, Majid, Alswaid, Abdulrahman Faiz, Bogusch, Susanne, Schafer-Kosulya, Anna, Vogel, Sebastian, Vick, Philipp, Schweickert, Axel, Wakeling, Matthew, Moreau de Bellaing, Anne, Alshamsi, Aisha M, Sanlaville, Damien, Mbarek, Hamdi, Saad, Chadi, Ellard, Sian, Eisenhaber, Frank, Tripolszki, Kornelia, Beetz, Christian, Bauer, Peter, Gossler, Achim, Eisenhaber, Birgit, Blum, Martin, Bouvagnet, Patrice, Bertoli-Avella, Aida, Amiel, Jeanne, Gordon, Christopher T, Reversade, Bruno

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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy von Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G., Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J., Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E., Glass, Ian A., Shendure, Jay, Neuhauss, Stephan C.F., Haldeman-Englert, Chad R., Doherty, Dan, Ferland, Russell J.

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Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus von Sparrow, Duncan B., Faqeih, Eissa Ali, Sallout, Bahauddin, Alswaid, Abdulrahman, Ababneh, Faroug, Al-Sayed, Moeenaldeen, Rukban, Hadeel, Eyaid, Wafaa M., Kageyama, Ryoichiro, Ellard, Sian, Turnpenny, Peter D., Dunwoodie, Sally L.

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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy von Tuz, Karina, Bachmann-Gagescu, Ruxandra, O'Day, Diana R, Hua, Kiet, Isabella, Christine R, Phelps, Ian G, Stolarski, Allan E, O'Roak, Brian J, Dempsey, Jennifer C, Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G, Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J, Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E, Glass, Ian A, Shendure, Jay, Neuhauss, Stephan C F, Haldeman-Englert, Chad R, Doherty, Dan, Ferland, Russell J

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Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy von Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G., Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J., Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E., Glass, Ian A., Shendure, Jay, Neuhauss, Stephan C.F., Haldeman-Englert, Chad R., Doherty, Dan, Ferland, Russell J.

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Combination of Positional Cloning and New Generation Sequencing Identifies 3 Novel Genes in Spastic Paraplegia Involved in Common Metabolic Pathways (P01.205) von Stevanin, G., Tesson, C., Nawara, M., Salih, M., Zaki, M., Mundwiller, E., Al Balwi, M., Boukhris, A., Bouhouche, A., Martin, E., Elmalik, S., Alswaid, A., Mochel, F., Santorelli, F., Benomar, A., Al Rasheed, S., Mhiri, C., Gleeson, J., Darios, F., Durr, A., Brice, A.

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