Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations von Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel

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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes von Shamseldin, Hanan E, Alshammari, Muneera, Al-Sheddi, Tarfa, Salih, Mustafa A, Alkhalidi, Hisham, Kentab, Amal, Repetto, Gabriela M, Hashem, Mais, Alkuraya, Fowzan S

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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States von Reddy, Hemakumar M, Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D, Mitsuhashi, Satomi, Darras, Basil T, Amato, Anthony A, Lidov, Hart Gw, Brownstein, Catherine A, Margulies, David M, Yu, Timothy W, Salih, Mustafa A, Kunkel, Louis M, MacArthur, Daniel G, Kang, Peter B

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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan von Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco

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Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy von Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline A., Shamseldin, Hanan E., Haack, Tobias B., Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A., Srinivasan, Satish, Gorza, Matteo, Kremer, Laura S., Wieland, Thomas, Strom, Tim M., Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Robinson, Alan J., Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa A., Al-Jishi, Emtethal, Raab, Christopher P., Bean, Charles, Furlan, Francesca, Parini, Rossella, Lamperti, Costanza, Mayr, Johannes A., Konstantopoulou, Vassiliki, Huemer, Martina, Pierce, Eric A., Meitinger, Thomas, Freisinger, Peter, Sperl, Wolfgang, Prokisch, Holger, Alkuraya, Fowzan S., Falk, Marni J., Zeviani, Massimo

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Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis von Awad, Salma, Al-Dosari, Mohammed S, Al-Yacoub, Nadya, Colak, Dilek, Salih, Mustafa A, Alkuraya, Fowzan S, Poizat, Coralie

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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease von Elsayed, Liena Elbaghir Omer, Drouet, Valérie, Usenko, Tatiana, Mohammed, Inaam N., Hamed, Ahlam AbdAlrahman Ahmed, Elseed, Maha Abdelmoneim, Salih, Mustafa A.M., Koko, Mahmoud Eltayeb, Mohamed, Ashraf Yahia Osman, Siddig, Rayan Abubaker, Elbashir, Mustafa Idris, Ibrahim, Muntaser Eltayeb, Durr, Alexandra, Stevanin, Giovanni, Lesage, Suzanne, Ahmed, Ammar Eltahir, Brice, Alexis

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Environmental pollutants particulate matter (PM2.5, PM10), Carbon Monoxide (CO), Nitrogen dioxide (NO2), Sulfur dioxide (SO2), and Ozone (O3) impact on lung functions von Meo, Sultan Ayoub, Salih, Mustafa A, Alkhalifah, Joud Mohammed, Alsomali, Abdulaziz Hassan, Almushawah, Abdullah Abdulrahman

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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy von Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle

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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations von Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham M S, Katona, Istvan, Kabiraj, Mohammad M, Chrast, Roman, Kentab, Amal Y, Alzaidan, Hamad, Rodenburg, Richard J, Bosley, Thomas M, Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

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The natural history of infantile neuroaxonal dystrophy von Altuame, Fadie D., Foskett, Gretchen, Atwal, Paldeep S., Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A., Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S.

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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy von Carmignac, Virginie, Salih, Mustafa A. M., Quijano-Roy, Susana, Marchand, Sylvie, Al Rayess, Molham M., Mukhtar, Maowia M., Urtizberea, Jon A., Labeit, Siegfried, Guicheney, Pascale, Leturcq, France, Gautel, Mathias, Fardeau, Michel, Campbell, Kevin P., Richard, Isabelle, Estournet, Brigitte, Ferreiro, Ana

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CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis von Manzini, M. Chiara, Xiong, Lan, Shaheen, Ranad, Tambunan, Dimira E., Di Costanzo, Stefania, Mitisalis, Vanessa, Tischfield, David J., Cinquino, Antonella, Ghaziuddin, Mohammed, Christian, Mehtab, Jiang, Qin, Laurent, Sandra, Nanjiani, Zohair A., Rasheed, Saima, Hill, R. Sean, Lizarraga, Sofia B., Gleason, Danielle, Sabbagh, Diya, Salih, Mustafa A., Alkuraya, Fowzan S., Walsh, Christopher A.

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The Meryon Lecture at the 24th annual meeting of the Meryon Society, St. Anne's College, Oxford, UK, 15th July 2022: Neuromuscular diseases in the Arab population von Salih, Mustafa A

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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy von Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.

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Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort von Shaheen, Ranad, Patel, Nisha, Shamseldin, Hanan, Alzahrani, Fatema, Al-Yamany, Ruah, Al Moisheer, Agaadir, Ewida, Nour, Anazi, Shamsa, Alnemer, Maha, Elsheikh, Mohamed, Alfaleh, Khaled, Alshammari, Muneera, Alhashem, Amal, Alangari, Abdullah A., Salih, Mustafa A., Kircher, Martin, Daza, Riza M., Ibrahim, Niema, Wakil, Salma M., Alaqeel, Ahmed, Altowaijri, Ikhlas, Shendure, Jay, Al-Habib, Amro, Faqieh, Eissa, Alkuraya, Fowzan S.

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A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report von Yahia, Ashraf, Chen, Zhefan Stephen, Ahmed, Ammar E., Emad, Sara, Adil, Rawaa, Abubaker, Rayan, Taha, Shaimaa Omer M. A., Salih, Mustafa A., Elsayed, Liena, Chan, Ho Yin Edwin, Stevanin, Giovanni

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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family von Elsayed, Liena E O, Mohammed, Inaam N, Hamed, Ahlam A A, Elseed, Maha A, Salih, Mustafa A M, Yahia, Ashraf, Siddig, Rayan A, Amin, Mutaz, Koko, Mahmoud, Elbashir, Mustafa I, Ibrahim, Muntaser E, Brice, Alexis, Ahmed, Ammar E, Stevanin, Giovanni

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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) von Seidahmed, Mohammed Z., Hamad, Muddathir H., AlBakheet, Albandary, Elmalik, Salah A., AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M., Colak, Dilek, Salih, Mustafa A., Kaya, Namik

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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy von Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Christina Elhosary, P., Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.

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