Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar von Faiyaz-Ul-Haque, M, Zaidi, SHE, Al-Mureikhi, MS, Peltekova, I, Tsui, L-C, Teebi, AS

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Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families von Faiyaz-Ul-Haque, M, Zaidi, SHE, Wahab, AA, Eltohami, A, Al-Mureikhi, MS, Al-Thani, G, Peltekova, VD, Tsui, L-C, Teebi, AS

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Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome von Elsaid, M.F., Chalhoub, N., Ben‐Omran, T., Kamel, H., AL Mureikhi, M., Ibrahim, K., Elizabeth Ross, M., Abdel Aleem, A.K.

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A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type von Faiyaz-Ul-Haque, Muhammad, Zaidi, Syed Hassan Ejaz, Al-Ali, Mariam, Al-Mureikhi, Mariam S., Kennedy, Shelley, Al-Thani, Ghalia, Tsui, Lap-Chee, Teebi, Ahmad Said

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Autozygome and high throughput confirmation of disease genes candidacy von Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S.

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome von Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A, Alhashem, Amal M, Ben-Omran, Tawfeg, Mahmoud, Iman G, Al Menabawy, Nihal M, Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P, Bjornsson, Hans T, Harris, Jacqueline, Dyment, David A, Graham, Gail E, Nezarati, Marjan M, Aul, Ritu B, Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernandez-Jaen, Alberto, Alvarez, Sara, Garcia-Prieto, Irene Diez, Alkuraya, Fowzan S, Alsaif, Hessa S, Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C, Shashi, Vandana, Sanchez-Lara, Pedro A, Graham, John M, Roberts, Amy, Chorin, Odelia, Evrony, Gilad D, Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A, Rodriguez, Nicolas, Sanchez-Martinez, Rosario, Tenorio-Castano, Jair, Nevado, Julian, Lapunzina, Pablo, Tirado, Pilar, Rodrigues, Maria-Teresa Carminho Amaro, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D, Au, P.Y. Billie, Weksberg, Rosanna

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P, Bjornsson, Hans T, Harris, Jacqueline, Dyment, David A, Graham, Gail E, Nezarati, Marjan M, Aul, Ritu B, Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S, Alsaif, Hessa S, Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C, Shashi, Vandana, Sanchez-Lara, Pedro A, Graham, John M, Roberts, Amy, Chorin, Odelia, Evrony, Gilad D, Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A, Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A Micheil, Kline, Antonie D, Au, PY Billie, Weksberg, Rosanna

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