Specialty Grand Challenge – Genetic Disorders

Por Al-Aama, Jumana Y.
Publicado em 2013

Effect of Ramadan fasting in Saudi Arabia on serum bone profile and immunoglobulins

Por Bahijri, Suhard M., Ajabnoor, Ghada M., Borai, Anwar, Al-Aama, Jumana Y., Chrousos, George P.
Publicado no Ther Adv Endocrinol Metab (2015)

Health Impact of Fasting in Saudi Arabia during Ramadan: Association with Disturbed Circadian Rhythm and Metabolic and Sleeping Patterns

Por Ajabnoor, Ghada M., Bahijri, Suhad, Borai, Anwar, Abdulkhaliq, Altaf A., Al-Aama, Jumana Y., Chrousos, George P.
Publicado em 2014

Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

Por Sabbagh, Heba J., Innes, Nicola P., Sallout, Bahauddin I., Alamoudi, Najlaa M., Hamdan, Mustafa A., Alhamlan, Nasir, Al-Khozami, Amaal I., Abdulhameed, Fatma D., Al-Aama, Jumana Y., Mossey, Peter A.
Publicado no Saudi Med J (2015)

Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients

Por Saadah, Omar I., Shaik, Noor Ahmad, Banaganapalli, Babajan, Salama, Mohammed A., Al-Harthi, Sameer E., Wang, Jun, Shawoosh, Harbi A., Alghamdi, Sharifa A., Bin-Taleb, Yagoub Y., Alhussaini, Bakr H., Elango, Ramu, Al-Aama, Jumana Y.
Publicado no Dis Markers (2015)

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

Por 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.
Publicado no Am J Hum Genet (2016)

How to Catch All Those Mutations—The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Por Kohonen-Corish, Maija R.J., Al-Aama, Jumana Y., Auerbach, Arleen D., Axton, Myles, Barash, Carol Isaacson, Bernstein, Inge, Béroud, Christophe, Burn, John, Cunningham, Fiona, Cutting, Garry R., den Dunnen, Johan T., Greenblatt, Marc S., Kaput, Jim, Katz, Michael, Lindblom, Annika, Macrae, Finlay, Maglott, Donna, Möslein, Gabriela, Povey, Sue, Ramesar, Raj, Richards, Sue, Seminara, Daniela, Sobrido, María-Jesús, Tavtigian, Sean, Taylor, Graham, Vihinen, Mauno, Winship, Ingrid, Cotton, Richard G.H.
Publicado em 2010

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Publicado em 2011

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Por Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.
Publicado em 2013

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Por de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F
Publicado em 2012

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Por Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, El Din Mahmoud, Iman Gamal, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
Publicado em 2014