Founder mutations and rare disease in the Arab world von Marafi, Dana

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WIPI proteins: Biological functions and related syndromes von Almannai, Mohammed, Marafi, Dana, El-Hattab, Ayman W.

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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants von Aburezq, Maryam, Alahmad, Ahmad, Alsafi, Rasha, Al-Tawari, Asma, Ramadan, Dina, Shafik, Magdy, Abdelaty, Omar, Makhseed, Nawal, Elshafie, Reem, Ayed, Mariam, Hayat, Abrar, Dashti, Fatima, Marafi, Dana, Albash, Buthaina, Bastaki, Laila, Alsharhan, Hind

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies von Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., Reutter, Heiko

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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy von Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., Lupski, James R.

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity von Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B., England, Eleina, Madden, Jill A., Posey, Jennifer E., Burglen, Lydie, Rodriguez, Diana, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel, Govin, Jérôme, Faivre, Laurence, Vitobello, Antonio

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Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis von Alabdulrazzaq, Fatima, Alanzi, Talal, Al‐Balool, Haya H., Gardham, Alice, Wakeling, Emma, Leitch, Harry G., AlSayed, Moeenaldeen, Abdulrahim, Maha, Aladwani, Abdulaziz, Romito, Antonio, Kampe, Kapil, Ferdinandusse, Sacha, Aboelanine, Ashraf H., Abdullah, Amira, Alwadani, Amal, Bastaki, Laila, Vaz, Frédéric M., Bertoli‐Avella, Aida M., Marafi, Dana

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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy von Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy von Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.

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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant von Calame, Daniel G., Fatih, Jawid M., Herman, Isabella, Coban‐Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Jhangiani, Shalini N., Marafi, Dana, Gibbs, Richard A., Posey, Jennifer E., Mehta, Vidya P., Mohila, Carrie A., Abid, Farida, Lotze, Timothy E., Pehlivan, Davut, Adesina, Adekunle M., Lupski, James R.

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Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome von Marafi, Dana, Suter, Bernhard, Schultz, Rebecca, Glaze, Daniel, Pavlik, Valory N, Goldman, Alica M

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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease von Herman, Isabella, Lopez, Michael A., Marafi, Dana, Pehlivan, Davut, Calame, Daniel G., Abid, Farida, Lotze, Timothy E.

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Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, d... von Herman, Isabella, Marafi, Dana, Abdelsalam, Ghada, Mitani, Tadahiro, Calame, Daniel, Akdemir, Zeynep Coban, Pehlivan, Davut, Posey, Jennifer, Lupski, James

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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Letter to the Editor von Marafi, Dana, Fussner, Steven, Chen, Yvonne Y., Yoshor, Daniel, Van Ness, Paul, Maheshwari, Atul

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Centers for Mendelian Genomics: A decade of facilitating gene discovery von Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Lek, Monkol, Jhangiani, Shalini N., Lifton, Richard P., Matise, Tara C., Lupski, James R., Valle, David, Nickerson, Deborah A., Akay, Gulsen, Antonescu, Corina, Austin-Tse, Christina A., Bacus, Tamara J., Bahrambeigi, Vahid, Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boone, Philip M., Calame, Daniel, Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Clarke, Declan, Delano, Kayla, Doddapaneni, Harshavardhan, Du, Renqian, Fatih, Jawid, Francioli, Laurent C., Fu, Jack, Gambin, Tomasz, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Gonzaga-Jauregui, Claudia, Grochowski, Christopher M., Gu, Shen, Hansen, Adam, Harmanci, Arif O., Huang, Yongqing, Johanson, Eric, Karaca, Ender, Kumar, Sushant, Laricchia, Kristen M., Ling, Hua, Lipson, Rachel B., MacMillan, Melissa P., Marshall, Jamie L., Martin, Renan, McGee, Sean, Mekonnen, Betselote, Mullen, Thomas E., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nielsen, Patrick M., Nudelman, Natalie, O’Leary, Melanie C., Pais, Lynn S., Patterson, Karynne, Pehlivan, Davut, Penney, Samantha, Pierce-Hoffman, Emma, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Sabo, Aniko, Scott, Daryl A., Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Snow, Hana, Solomonson, Matthew, Song, Xiaofei, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Valivullah, Zaheer, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Wilson, Michael W., Wiszniewski, Wojciech, Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wu, Nan, Yi, Qian, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Yeting, Zoghbi, Huda, van den Veyver, Igna, O’Donnell-Luria, Anne

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Human ‘knockouts’ of CSF3 display severe congenital neutropenia von Khouj, Ebtissal, Marafi, Dana, Aljamal, Bayan, Hajiya, Anwar, Elshafie, Reem M., Hashem, Mais O., Abdulwahab, Firdous, Jaafar, Amal, Alshidi, Tarfa, Aboelanine, Ashraf H., Awaji, Ali, Alkuraya, Fowzan S.

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37 SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes von Abdelgalil, Amr Mohamed, Ahmad, Abeer, Albash, Buthaina, Bastaki, Laila, Marafi, Dana

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Picking up the pace von Marafi, Dana, Fussner, Steven, Chen, Yvonne Y., Yoshor, Daniel, Van Ness, Paul, Maheshwari, Atul

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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data von Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

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