Works by Dehghani, Mohammadreza


Results: 36
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    Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165
    By:
    • Christensen, Maria B.;
    • Levy, Amanda M.;
    • Mohammadi, Nazanin A.;
    • Niceta, Marcello;
    • Kaiyrzhanov, Rauan;
    • Dentici, Maria Lisa;
    • Al Alam, Chadi;
    • Alesi, Viola;
    • Benoit, Valérie;
    • Bhatia, Kailash P.;
    • Bierhals, Tatjana;
    • Boßelmann, Christian M.;
    • Buratti, Julien;
    • Callewaert, Bert;
    • Ceulemans, Berten;
    • Charles, Perrine;
    • De Wachter, Matthias;
    • Dehghani, Mohammadreza;
    • D'haenens, Erika;
    • Doco‐Fenzy, Martine
    Publication type:
    Article
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    Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00473-9
    By:
    • Vincke, Lieselot;
    • Van Schil, Kristof;
    • Ahmadieh, Hamid;
    • Moghaddasi, Afrooz;
    • Sabbaghi, Hamideh;
    • Daftarian, Narsis;
    • Motevasseli, Tahmineh;
    • Javanparast Sheykhani, Leila;
    • Dehghani, Mohammadreza;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • De Zaeytijd, Julie;
    • De Bruyne, Marieke;
    • Mahieu, Quinten;
    • Al-Hajj, Ebrahim;
    • Del Pozo-Valero, Marta;
    • Rosseel, Toon;
    • Van Heetvelde, Mattias;
    • Maroofian, Reza;
    • Suri, Fatemeh;
    • Bauwens, Miriam
    Publication type:
    Article
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    Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.

    Published in:
    2021
    By:
    • Kaiyrzhanov, Rauan;
    • Wortmann, Saskia;
    • Reid, Taryn;
    • Dehghani, Mohammadreza;
    • Mehrjardi, Mohammad Yahya Vahidi;
    • Alhaddad, Bader;
    • Wagner, Matias;
    • Deschauer, Marcus;
    • Cordts, Isabell;
    • Fernandez-Murray, J Pedro;
    • Treffer, Veronika;
    • Metanat, Zahra;
    • Pitman, Alan;
    • Houlden, Henry;
    • Meitinger, Thomas;
    • Carroll, Christopher;
    • McMaster, Christopher R;
    • Maroofian, Reza;
    • Vahidi Mehrjardi, Mohammad Yahya
    Publication type:
    Letter
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    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

    Published in:
    2018
    By:
    • McMillan, Hugh J;
    • Telegrafi, Aida;
    • Singleton, Amanda;
    • Cho, Megan T;
    • Lelli, Daniel;
    • Lynn, Francis C;
    • Griffin, Julie;
    • Asamoah, Alexander;
    • Rinne, Tuula;
    • Erasmus, Corrie E;
    • Koolen, David A;
    • Haaxma, Charlotte A;
    • Keren, Boris;
    • Doummar, Diane;
    • Mignot, Cyril;
    • Thompson, Islay;
    • Velsher, Lea;
    • Dehghani, Mohammadreza;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • Maroofian, Reza
    Publication type:
    journal article
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    A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

    Published in:
    Public Health Genomics, 2017, v. 20, n. 3, p. 188, doi. 10.1159/000477560
    By:
    • Dehghani, MohammadReza;
    • Mojarad, Majid;
    • Ghayoor Karimiani, Ehsan;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • Sahebalzamani, afsaneh;
    • ashrafzadeh, Farah;
    • Beiraghi Toosi, Mehran;
    • Eslahi, atiyeh;
    • ahangari, Najmeh;
    • Yassini, Seyed Mojtaba;
    • Hassanbeigi, afsaneh;
    • Rasti, azam;
    • Kalantar, Seyed Mehdi;
    • Maroofian, Reza
    Publication type:
    Article
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    A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

    Published in:
    Public Health Genomics, 2017, v. 20, n. 2, p. 188, doi. 10.1159/000477560
    By:
    • Dehghani, MohammadReza;
    • Mojarad, Majid;
    • Karimiani, Ehsan Ghayoor;
    • Mehrjardi, Mohammad Yahya Vahidi;
    • Sahebalzamani, Afsaneh;
    • Ashrafzadeh, Farah;
    • Toosi, Mehran Beiraghi;
    • Eslahi, Atiyeh;
    • Ahangari, Najmeh;
    • Yassini, Seyed Mojtaba;
    • Hassanbeigi, Afsaneh;
    • Rasti, Azam;
    • Kalantar, Seyed Mehdi;
    • Maroofian, Reza
    Publication type:
    Article
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