Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

بواسطة Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam
الحاوية / القاعدة Orphanet J Rare Dis (2019)

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

بواسطة Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas
الحاوية / القاعدة BMC Med Genomics (2019)

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

بواسطة Najafi, Maryam, Tamandani, Dor Mohammad Kordi, Azarfar, Anoush, Bakey, Zeineb, Behjati, Farkhondeh, Antony, Dinu, Schüle, Isabel, Sadeghi-Bojd, Simin, Karimiani, Ehsan Ghayoor, Schmidts, Miriam
الحاوية / القاعدة Front Pediatr (2019)

JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma

بواسطة Ayatollahi, Hossein, Sadeghian, Mohammad Hadi, Keramati, Mohammad Reza, Karimiani, Ehsan Ghayoor, Jafarian, Amir Hossein, Shirdel, Abbas, Rahimi, Hossein, Zangane-Far, Mohammad Esmaeel, Shajiei, Arezoo, Sheikhi, Maryam
الحاوية / القاعدة Indian J Hematol Blood Transfus (2015)

Expanding the clinical phenotype of IARS2-related mitochondrial disease

بواسطة Vona, Barbara, Maroofian, Reza, Bellacchio, Emanuele, Najafi, Maryam, Thompson, Kyle, Alahmad, Ahmad, He, Langping, Ahangari, Najmeh, Rad, Abolfazl, Shahrokhzadeh, Sima, Bahena, Paulina, Mittag, Falk, Traub, Frank, Movaffagh, Jebrail, Amiri, Nafise, Doosti, Mohammad, Boostani, Reza, Shirzadeh, Ebrahim, Haaf, Thomas, Diodato, Daria, Schmidts, Miriam, Taylor, Robert W., Karimiani, Ehsan Ghayoor
الحاوية / القاعدة BMC Med Genet (2018)

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

بواسطة Oosterhof, Nynke, Chang, Irene J., Karimiani, Ehsan Ghayoor, Kuil, Laura E., Jensen, Dana M., Daza, Ray, Young, Erica, Astle, Lee, van der Linde, Herma C., Shivaram, Giridhar M., Demmers, Jeroen, Latimer, Caitlin S., Keene, C. Dirk, Loter, Emily, Maroofian, Reza, van Ham, Tjakko J., Hevner, Robert F., Bennett, James T.
الحاوية / القاعدة Am J Hum Genet (2019)

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

بواسطة Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
الحاوية / القاعدة Hum Mol Genet (2019)

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

بواسطة del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago
الحاوية / القاعدة Genet Med (2020)

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

بواسطة Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie
الحاوية / القاعدة Nat Commun (2018)

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

بواسطة Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N., Mancini, Grazia M.S., Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M. Chiara, Beiraghi Toosi, Mehran, Gleeson, Joseph G.
الحاوية / القاعدة Am J Hum Genet (2019)

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

بواسطة Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
الحاوية / القاعدة Nat Commun (2019)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

بواسطة Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa
الحاوية / القاعدة Brain (2020)

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

بواسطة Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S., Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M., Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O’Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza, Silver, David L.
الحاوية / القاعدة Eur J Hum Genet (2020)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

بواسطة Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
الحاوية / القاعدة Eur J Hum Genet (2018)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

بواسطة Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry
الحاوية / القاعدة Brain (2019)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

بواسطة Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
الحاوية / القاعدة Hum Mutat (2018)

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

بواسطة Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna
الحاوية / القاعدة Am J Hum Genet (2021)

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

بواسطة Volpi, Stefano, Cicalese, Maria Pia, Tuijnenburg, Paul, Tool, Anton T. J., Cuadrado, Eloy, Abu-Halaweh, Marwan, Ahanchian, Hamid, Alzyoud, Raed, Akdemir, Zeynep Coban, Barzaghi, Federica, Blank, Alexander, Boisson, Bertrand, Bottino, Cristina, Brigida, Immacolata, Caorsi, Roberta, Casanova, Jean-Laurent, Chiesa, Sabrina, Chinn, Ivan Kingyue, Dückers, Gregor, Enders, Anselm, Erichsen, Hans Christian, Forbes, Lisa R., Gambin, Tomasz, Gattorno, Marco, Karimiani, Ehsan Ghayoor, Giliani, Silvia, Gold, Michael S., Jacobsen, Eva-Maria, Jansen, Machiel H., King, Jovanka R., Laxer, Ronald M., Lupski, James R., Mace, Emily, Marcenaro, Stefania, Maroofian, Reza, Meijer, Alexander B., Niehues, Tim, Notarangelo, Luigi D., Orange, Jordan, Pannicke, Ulrich, Pearson, Chris, Picco, Paolo, Quinn, Patrick J., Schulz, Ansgar, Seeborg, Filiz, Stray-Pedersen, Asbjørg, Tawamie, Hasan, van Leeuwen, Ester M. M., Aiuti, Alessandro, Yeung, Rae, Schwarz, Klaus, Kuijpers, Taco W.
الحاوية / القاعدة J Allergy Clin Immunol (2019)

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

بواسطة Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E., Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, Sánchez-Soler, María José, van Slegtenhorst, Marjon, Keren, Boris, Afenjar, Alexandra, Coury, Stephanie A., Tan, Wen-Hann, Oegema, Renske, de Vries, Linda S., Fawcett, Katherine A., Nikkels, Peter G.J., Bertoli-Avella, Aida, Al Hashem, Amal, Alwabel, Abdulmalik A., Tlili-Graiess, Kalthoum, Efthymiou, Stephanie, Zafar, Faisal, Rana, Nuzhat, Bibi, Farah, Houlden, Henry, Maroofian, Reza, Person, Richard E., Crunk, Amy, Savatt, Juliann M., Turner, Lisbeth, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Saadi, Nebal Waill, Akhondian, Javad, Lequin, Maarten H., Kayserili, Hülya, van der Spek, Peter J., Jansen, Anna C., Kros, Johan M., Verdijk, Robert M., Milošević, Nataša Jovanov, Fornerod, Maarten, Mastroberardino, Pier Giorgio, Mancini, Grazia M.S.
الحاوية / القاعدة Am J Hum Genet (2019)

A form of muscular dystrophy associated with pathogenic variants in JAG2

بواسطة Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.
الحاوية / القاعدة Am J Hum Genet (2021)