Works matching AU Rad, Aboulfazl

Results: 15
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    2

    Biallelic loss of EMC10 leads to mild to severe intellectual disability.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602
    By:
    • Kaiyrzhanov, Rauan;
    • Rocca, Clarissa;
    • Suri, Mohnish;
    • Gulieva, Sughra;
    • Zaki, Maha S.;
    • Henig, Noa Z.;
    • Siquier, Karine;
    • Guliyeva, Ulviyya;
    • Mounir, Samir M.;
    • Marom, Daphna;
    • Allahverdiyeva, Aynur;
    • Megahed, Hisham;
    • van Bokhoven, Hans;
    • Cantagrel, Vincent;
    • Rad, Aboulfazl;
    • Pourkeramti, Alemeh;
    • Dehghani, Boshra;
    • Shao, Diane D.;
    • Markus‐Bustani, Keren;
    • Sofrin‐Drucker, Efrat
    Publication type:
    Article
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    4

    Unraveling haplotype errors in the DFNA33 locus.

    Published in:
    Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1214736
    By:
    • Vona, Barbara;
    • Regele, Sabrina;
    • Rad, Aboulfazl;
    • Strenzke, Nicola;
    • Pater, Justin A.;
    • Neumann, Katrin;
    • Sturm, Marc;
    • Haack, Tobias B.;
    • Zehnhoff-Dinnesen, Antoinette G. Am
    Publication type:
    Article
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    Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
    By:
    • Kaiyrzhanov, Rauan;
    • Rad, Aboulfazl;
    • Lin, Sheng-Jia;
    • Bertoli-Avella, Aida;
    • Kallemeijn, Wouter W;
    • Godwin, Annie;
    • Zaki, Maha S;
    • Huang, Kevin;
    • Lau, Tracy;
    • Petree, Cassidy;
    • Efthymiou, Stephanie;
    • Karimiani, Ehsan Ghayoor;
    • Hempel, Maja;
    • Normand, Elizabeth A;
    • Rudnik-Schöneborn, Sabine;
    • Schatz, Ulrich A;
    • Baggelaar, Marc P;
    • Ilyas, Muhammad;
    • Sultan, Tipu;
    • Alvi, Javeria Raza
    Publication type:
    Article
    9

    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00593-w
    By:
    • Koparir, Asuman;
    • Lekszas, Caroline;
    • Keseroglu, Kemal;
    • Rose, Thalia;
    • Rappl, Lena;
    • Rad, Aboulfazl;
    • Maroofian, Reza;
    • Narendran, Nakul;
    • Hasanzadeh, Atefeh;
    • Karimiani, Ehsan Ghayoor;
    • Boschann, Felix;
    • Kornak, Uwe;
    • Klopocki, Eva;
    • Özbudak, Ertuğrul M.;
    • Vona, Barbara;
    • Haaf, Thomas;
    • Liedtke, Daniel
    Publication type:
    Article
    10

    Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 311, doi. 10.3390/ijms21010311
    By:
    • Doll, Julia;
    • Kolb, Susanne;
    • Schnapp, Linda;
    • Rad, Aboulfazl;
    • Rüschendorf, Franz;
    • Khan, Imran;
    • Adli, Abolfazl;
    • Hasanzadeh, Atefeh;
    • Liedtke, Daniel;
    • Knaup, Sabine;
    • Hofrichter, Michaela AH;
    • Müller, Tobias;
    • Dittrich, Marcus;
    • Kong, Il-Keun;
    • Kim, Hyung-Goo;
    • Haaf, Thomas;
    • Vona, Barbara
    Publication type:
    Article
    11
    12

    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
    13

    Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 785, doi. 10.1007/s00439-021-02303-1
    By:
    • Bahena, Paulina;
    • Daftarian, Narsis;
    • Maroofian, Reza;
    • Linares, Paola;
    • Villalobos, Daniel;
    • Mirrahimi, Mehraban;
    • Rad, Aboulfazl;
    • Doll, Julia;
    • Hofrichter, Michaela A. H.;
    • Koparir, Asuman;
    • Röder, Tabea;
    • Han, Seungbin;
    • Sabbaghi, Hamideh;
    • Ahmadieh, Hamid;
    • Behboudi, Hassan;
    • Villanueva-Mendoza, Cristina;
    • Cortés-Gonzalez, Vianney;
    • Zamora-Ortiz, Rocio;
    • Kohl, Susanne;
    • Kuehlewein, Laura
    Publication type:
    Article
    14

    A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
    By:
    • Vona, Barbara;
    • Mazaheri, Neda;
    • Lin, Sheng-Jia;
    • Dunbar, Lucy A.;
    • Maroofian, Reza;
    • Azaiez, Hela;
    • Booth, Kevin T.;
    • Vitry, Sandrine;
    • Rad, Aboulfazl;
    • Rüschendorf, Franz;
    • Varshney, Pratishtha;
    • Fowler, Ben;
    • Beetz, Christian;
    • Alagramam, Kumar N.;
    • Murphy, David;
    • Shariati, Gholamreza;
    • Sedaghat, Alireza;
    • Houlden, Henry;
    • Petree, Cassidy;
    • VijayKumar, Shruthi
    Publication type:
    Article
    15

    KDM5A mutations identified in autism spectrum disorder using forward genetics.

    Published in:
    eLife, 2020, p. 1, doi. 10.7554/eLife.56883
    By:
    • Hayek, Lauretta El;
    • Tuncay, Islam Oguz;
    • Nijem, Nadine;
    • Russell, Jamie;
    • Ludwig, Sara;
    • Kaur, Kiran;
    • Xiaohong Li;
    • Anderton, Priscilla;
    • Tang, Miao;
    • Gerard, Amanda;
    • Heinze, Anja;
    • Zacher, Pia;
    • Alsaif, Hessa S.;
    • Rad, Aboulfazl;
    • Abbaszadegan, Kazem Hassanpour Mohammad Reza;
    • Washington, Camerun;
    • DuPont, Barbara R.;
    • Louie, Raymond J.;
    • Couse, Madeline;
    • Faden, Maha
    Publication type:
    Article