Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis

por Greenberg, Ana B. W., Mehta, Neel H., Allington, Garrett, Jin, Sheng Chih, Moreno-De-Luca, Andrés, Kahle, Kristopher T.
Publicado 2023

Management of dynamic cervical kyphosis with dorsal epidural lipomatosis: a Hirayama disease variant? Illustrative case

por Kundishora, Adam J., Reeves, Benjamin C., Moreno-De-Luca, Andres, Hong, Christopher S., Robert, Stephanie M., Elsamadicy, Aladine A., Tuason, Dominick, DiLuna, Michael L.
Publicado 2023

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

por Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Souaid, Mirna, Sabbagh, Sandra, Najarzadeh Torbati, Paria, Khan, Suliman, Roze, Emmanuel, Moreno‐De‐Luca, Andres, Bertoli‐Avella, Aida M., Houlden, Henry, Balla, Tamas, Maroofian, Reza
Publicado 2022

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

por Nagy, Sara, Lau, Tracy, Alavi, Shahryar, Karimiani, Ehsan Ghayoor, Vallian, Jalal, Ng, Bobby G., Noroozi Asl, Samaneh, Akhondian, Javad, Bahreini, Amir, Yaghini, Omid, Uapinyoying, Prech, Bonnemann, Carsten, Freeze, Hudson H., Dissanayake, Vajira H. W., Sirisena, Nirmala D., Schmidts, Miriam, Houlden, Henry, Moreno‐De‐Luca, Andres, Maroofian, Reza
Publicado 2022

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

por MacLennan, Alastair H., Lewis, Sara, Moreno-De-Luca, Andres, Fahey, Michael, Leventer, Richard J., McIntyre, Sarah, Ben-Pazi, Hilla, Corbett, Mark, Wang, Xiaoyang, Baynam, Gareth, Fehlings, Darcy, Kurian, Manju A., Zhu, Changlian, Himmelmann, Kate, Smithers-Sheedy, Hayley, Wilson, Yana, Ocaña, Carlos Santos, van Eyk, Clare, Badawi, Nadia, Wintle, Richard F., Jacobsson, Bo, Amor, David J., Mallard, Carina, Pérez-Jurado, Luis A., Hallman, Mikko, Rosenbaum, Peter J., Kruer, Michael C., Gecz, Jozef
Publicado 2019

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

por Lin, Sheng-Jia, Vona, Barbara, Lau, Tracy, Huang, Kevin, Zaki, Maha S., Aldeen, Huda Shujaa, Karimiani, Ehsan Ghayoor, Rocca, Clarissa, Noureldeen, Mahmoud M., Saad, Ahmed K., Petree, Cassidy, Bartolomaeus, Tobias, Abou Jamra, Rami, Zifarelli, Giovanni, Gotkhindikar, Aditi, Wentzensen, Ingrid M., Liao, Mingjuan, Cork, Emalyn Elise, Varshney, Pratishtha, Hashemi, Narges, Mohammadi, Mohammad Hasan, Rad, Aboulfazl, Neira, Juanita, Toosi, Mehran Beiraghi, Knopp, Cordula, Kurth, Ingo, Challman, Thomas D., Smith, Rebecca, Abdalla, Asmahan, Haaf, Thomas, Suri, Mohnish, Joshi, Manali, Chung, Wendy K., Moreno-De-Luca, Andres, Houlden, Henry, Maroofian, Reza, Varshney, Gaurav K.
Publicado 2023

Phenotypic continuum of NFU1 ‐related disorders

por Kaiyrzhanov, Rauan, Zaki, Maha S., Lau, Tracy, Sen, Sambuddha, Azizimalamiri, Reza, Zamani, Mina, Sayin, Gözde Yeşil, Hilander, Taru, Efthymiou, Stephanie, Chelban, Viorica, Brown, Ruth, Thompson, Kyle, Scarano, Maria Irene, Ganesh, Jaya, Koneev, Kairgali, Gülaçar, Ismail Musab, Person, Richard, Sadykova, Dinara, Maidyrov, Yerdan, Seifi, Tahereh, Zadagali, Aizhan, Bernard, Geneviève, Allis, Katrina, Elloumi, Houda Zghal, Lindy, Amanda, Taghiabadi, Ehsan, Verma, Sumit, Logan, Rachel, Kirmse, Brian, Bai, Renkui, Khalaf, Shaimaa M., Abdel‐Hamid, Mohamed S., Sedaghat, Alireza, Shariati, Gholamreza, Issa, Mahmoud, Zeighami, Jawaher, Elbendary, Hasnaa M., Brown, Garry, Taylor, Robert W., Galehdari, Hamid, Gleeson, Joseph J., Carroll, Christopher J., Cowan, James A., Moreno‐De‐Luca, Andres, Houlden, Henry, Maroofian, Reza
Publicado 2022

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

por Zhao, Shujuan, Mekbib, Kedous Y., van der Ent, Martijn A., Allington, Garrett, Prendergast, Andrew, Chau, Jocelyn E., Smith, Hannah, Shohfi, John, Ocken, Jack, Duran, Daniel, Furey, Charuta G., Hao, Le Thi, Duy, Phan Q., Reeves, Benjamin C., Zhang, Junhui, Nelson-Williams, Carol, Chen, Di, Li, Boyang, Nottoli, Timothy, Bai, Suxia, Rolle, Myron, Zeng, Xue, Dong, Weilai, Fu, Po-Ying, Wang, Yung-Chun, Mane, Shrikant, Piwowarczyk, Paulina, Fehnel, Katie Pricola, See, Alfred Pokmeng, Iskandar, Bermans J., Aagaard-Kienitz, Beverly, Moyer, Quentin J., Dennis, Evan, Kiziltug, Emre, Kundishora, Adam J., DeSpenza, Tyrone, Greenberg, Ana B. W., Kidanemariam, Seblewengel M., Hale, Andrew T., Johnston, James M., Jackson, Eric M., Storm, Phillip B., Lang, Shih-Shan, Butler, William E., Carter, Bob S., Chapman, Paul, Stapleton, Christopher J., Patel, Aman B., Rodesch, Georges, Smajda, Stanislas, Berenstein, Alejandro, Barak, Tanyeri, Erson-Omay, E. Zeynep, Zhao, Hongyu, Moreno-De-Luca, Andres, Proctor, Mark R., Smith, Edward R., Orbach, Darren B., Alper, Seth L., Nicoli, Stefania, Boggon, Titus J., Lifton, Richard P., Gunel, Murat, King, Philip D., Jin, Sheng Chih, Kahle, Kristopher T.
Publicado 2023

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Publicado 2023