Last resort: successful AngioVac of fungal tricuspid valve vegetation von Talebi, S, Tan, B E Xin, Gazali, R M, Herzog, E

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development von Simpson, M.A., Hsu, R., Keir, L.S., Hao, J., Sivapalan, G., Ernst, L.M., Zackai, E.H., Al-Gazali, L.I., Hulskamp, G., Kingston, H.M., Prescott, T.E., Ion, A., Patton, M.A., Murday, V., George, A., Crosby, A.H.

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Elevated IL-33 expression is associated with pediatric eosinophilic esophagitis, and exogenous IL-33 promotes eosinophilic esophagitis development in mice von Judd, L M, Heine, R G, Menheniott, T R, Buzzelli, J, O'Brien-Simpson, N, Pavlic, D, O'Connor, L, Al Gazali, K, Hamilton, O, Scurr, M, Collison, A M, Mattes, J, Allen, K J, Giraud, A S

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A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease von Abdelrahman, Hanadi A., Al‐Shamsi, Aisha M., Ali, Bassam R., Al‐Gazali, Lihadh

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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes von Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel

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Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive von Abdelrahman, Hanadi A., Akawi, Nadia, Al‐Shamsi, Aisha M., Ali, Amanat, Al‐Jasmi, Fatma, John, Anne, Hertecant, Jozef, Al‐Gazali, Lihadh, Ali, Bassam R.

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A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations... von Ben‐Mahmoud, A., Ben‐Salem, S., Al‐Sorkhy, M., John, A., Ali, B.R., Al‐Gazali, L.

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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome von Alders, Mariëlle, Al-Gazali, Lihadh, Cordeiro, Isabelle, Dallapiccola, Bruno, Garavelli, Livia, Tuysuz, Beyhan, Salehi, Faranak, Haagmans, Martin A., Mook, Olaf R., Majoie, Charles B., Mannens, Marcel M., Hennekam, Raoul C.

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Entwined African and Asian genetic roots of medieval peoples of the Swahili coast von Brielle, Esther S., Fleisher, Jeffrey, Wynne-Jones, Stephanie, Sirak, Kendra, Broomandkhoshbacht, Nasreen, Callan, Kim, Curtis, Elizabeth, Iliev, Lora, Lawson, Ann Marie, Oppenheimer, Jonas, Qiu, Lijun, Stewardson, Kristin, Workman, J. Noah, Zalzala, Fatma, Ayodo, George, Gidna, Agness O., Kabiru, Angela, Kwekason, Amandus, Mabulla, Audax Z. P., Manthi, Fredrick K., Ndiema, Emmanuel, Ogola, Christine, Sawchuk, Elizabeth, Al-Gazali, Lihadh, Ali, Bassam R., Ben-Salem, Salma, Letellier, Thierry, Pierron, Denis, Radimilahy, Chantal, Rakotoarisoa, Jean-Aimé, Raaum, Ryan L., Culleton, Brendan J., Mallick, Swapan, Rohland, Nadin, Patterson, Nick, Mwenje, Mohammed Ali, Ahmed, Khalfan Bini, Mohamed, Mohamed Mchulla, Williams, Sloan R., Monge, Janet, Kusimba, Sibel, Prendergast, Mary E., Reich, David, Kusimba, Chapurukha M.

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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract von Blackburn, Alexandria T. M., Bekheirnia, Nasim, Uma, Vanessa C., Corkins, Mark E., Xu, Yuxiao, Rosenfeld, Jill A., Bainbridge, Matthew N., Yang, Yaping, Liu, Pengfei, Madan-Khetarpal, Suneeta, Delgado, Mauricio R., Hudgins, Louanne, Krantz, Ian, Rodriguez-Buritica, David, Wheeler, Patricia G., Al-Gazali, Lihadh, Mohamed Saeed Mohamed Al Shamsi, Aisha, Gomez-Ospina, Natalia, Chao, Hsiao-Tuan, Mirzaa, Ghayda M., Scheuerle, Angela E., Kukolich, Mary K., Scaglia, Fernando, Eng, Christine, Willsey, Helen Rankin, Braun, Michael C., Lamb, Dolores J., Miller, Rachel K., Bekheirnia, Mir Reza

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Synaptic, transcriptional and chromatin genes disrupted in autism von De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma’ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Jeremy Willsey, A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.

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A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss von Gariballa, Nesrin, Ben‐Mahmoud, Afif, Komara, Makanko, Al‐Shamsi, Aisha M., John, Anne, Ali, Bassam R., Al‐Gazali, Lihadh

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Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities von Ben-Mahmoud, Afif, Al-Shamsi, Aisha M., Ali, Bassam R., Al-Gazali, Lihadh

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction von Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip L S M, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G

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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations von Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A, Al Shamsi, Aisha, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L, Qu, Chunjing, Ding, Yan, Muzny, Donna M, Gibbs, Richard A, Eng, Christine M, Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E, Lupski, James R, Schaaf, Christian P, Yang, Yaping

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Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux von Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.

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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features von Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.

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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome von Woods, C.G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S.M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.

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The evaluation of antioxidant action of green seaweed Boergesenia forbesii extracts von Gazali, M, Husni, A, Majid, F A A, Zuriat, Syafitri, R, Wahyuni, S, Hidayat, D

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival von Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.

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