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Journal Article
Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Karimiani, Ehsan Ghayoor, Hashemi, Narges, Souaid, Mirna ORCID: 0000-0001-8950-3170, Sabbagh, Sandra, Torbati, Paria Najarzadeh, Khan, Suliman
ORCID: 0000-0002-0745-7834, Roze, Emmanuel, Moreno-De-Luca, Andres, Bertoli-Avella, Aida M., Houlden, Henry, Balla, Tamas and Maroofian, Reza
(2022).
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Ann. Clin. Transl. Neurol., 9 (9).
S. 1345 - 1359.
HOBOKEN:
WILEY.
ISSN 2328-9503
Iqbal, Maria, Maroofian, Reza, Cavdarli, Busranur, Riccardi, Florence ORCID: 0000-0002-7223-2172, Field, Michael, Banka, Siddharth
ORCID: 0000-0002-8527-2210, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie
ORCID: 0000-0003-4900-9877, Abdullah, Uzma
ORCID: 0000-0002-7168-8266, Makhdoom, Ehtisham Ul Haq, Ali, Zafar
ORCID: 0000-0002-2389-3337, de Almeida, Tobias Scherf, Molinari, Florence
ORCID: 0000-0001-5111-7215, Mignon-Ravix, Cecile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara
ORCID: 0000-0002-6719-3447, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz
ORCID: 0000-0003-3207-4074, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit
ORCID: 0000-0001-9385-4168, Altmueller, Janine, Motameny, Susanne, Hoehne, Wolfgang, Houlden, Henry, Nuernberg, Peter, Wollnik, Bernd
ORCID: 0000-0003-2589-0364, Villard, Laurent
ORCID: 0000-0001-6657-5008, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid
ORCID: 0000-0002-1353-8809 and Yigit, Gokhan
ORCID: 0000-0003-2777-0198
(2021).
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet. Med., 23 (11).
S. 2138 - 2150.
LONDON:
SPRINGERNATURE.
ISSN 1530-0366
Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd
ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde
ORCID: 0000-0003-4051-5191
(2018).
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum. Mutat., 39 (9).
S. 1284 - 1299.
HOBOKEN:
WILEY.
ISSN 1098-1004
Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger
ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert
(2020).
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromusc. Disord., 30 (7).
S. 583 - 590.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert
(2021).
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum. Mutat., 42 (4).
S. 460 - 473.
HOBOKEN:
WILEY.
ISSN 1098-1004
Wong, Keit Men ORCID: 0000-0002-5449-6318, Jepsen, Wayne M., Efthymiou, Stephanie
ORCID: 0000-0003-4900-9877, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine
ORCID: 0000-0003-4372-1521, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza and Huppke, Peter
(2022).
Mutations in TAF8 cause a neurodegenerative disorder.
Brain, 145 (9).
S. 3022 - 3035.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156