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  1. Vona, Barbara [Author]; Maroofian, Reza [Author]; Bellacchio, Emanuele [Author]; Najafi, Maryam [Author]; Thompson, Kyle [Author]; Alahmad, Ahmad [Author]; He, Langping [Author]; Ahangari, Najmeh [Author]; Rad, Abolfazl [Author]; Shahrokhzadeh, Sima [Author]; Bahena, Paulina [Author]; Mittag, Falk [Author]; Traub, Frank [Author]; Movaffagh, Jebrail [Author]; Amiri, Nafise [Author]; Doosti, Mohammad [Author]; Boostani, Reza [Author]; Shirzadeh, Ebrahim [Author]; Haaf, Thomas [Author]; Diodato, Daria [Author]; Schmidts, Miriam [Author]; Taylor, Robert W. [Author]; Karimiani, Ehsan Ghayoor [Author]

    Expanding the clinical phenotype of IARS2-related mitochondrial disease

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    London: Springer Nature America, Inc, 2018

    Published in: BMC medical genetics ; 19, 1 (2018), 196

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

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

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    Oxford: Wiley, 2022

    Published in: Clinical genetics ; 102, 6 (2022), 530-536

  3. Rad, Abolfazl [Author]; Altunoglu, Umut [Author]; Miller, Rebecca [Author]; Maroofian, Reza [Author]; James, Kiely N. [Author]; Çağlayan, Ahmet Okay [Author]; Najafi, Maryam [Author]; Stanley, Valentina [Author]; Boustany, Rose-Mary [Author]; Yeşil, Gözde [Author]; Sahebzamani, Afsaneh [Author]; Ercan-Sencicek, Gülhan [Author]; Saeidi, Kolsoum [Author]; Wu, Kaman [Author]; Bauer, Peter [Author]; Bakey, Zeineb [Author]; Gleeson, Joseph G. [Author]; Hauser, Natalie [Author]; Gunel, Murat [Author]; Kayserili, Hulya [Author]; Schmidts, Miriam [Author]

    MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

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    London: BMJ, 2019

    Published in: Journal of medical genetics ; 56, 5 (2019), 332-39

  4. Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...]

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

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    New York, NY [u.a.]: Wiley, 2019

    Published in: Human mutation ; 40, 3 (2019), 267-280

  5. Martin, Paige B. [Author]; Kigoshi-Tansho, Yu [Author]; Sher, Roger B. [Author]; Ravenscroft, Gianina [Author]; Stauffer, Jennifer E. [Author]; Kumar, Rajesh [Author]; Yonashiro, Ryo [Author]; Müller, Tina [Author]; Griffith, Christopher [Author]; Allen, William [Author]; Pehlivan, Davut [Author]; Haral, Tamar [Author]; Zenker, Martin [Author]; Howting, Denise [Author]; Schanze, Denny [Author]; Faqeih, Eissa A. [Author]; Almontashiri, Naif A. M. [Author]; Maroofian, Reza [Author]; Houlden, Henry [Author]; Mazaheri, Neda [Author]; Galehdari, Hamid [Author]; Douglas, Ganka [Author]; Posey, Jennifer E. [Author]; Ryan, Monique [Author]; [...]

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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    15 September 2020

    Published in: Nature Communications ; 11(2020) Artikel-Nummer 4625, 12 Seiten

  12. Himes, Ryan W.; Mojarrad, Majid; Eslahi, Atieh; Finegold, Milton J.; Maroofian, Reza; Moore, David D.

    NR1H4‐related Progressive Familial Intrahepatic Cholestasis 5 : Further Evidence for Rapidly Progressive Liver Failure : Further Evidence for Rapidly Progressive Liver Failure

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    Wiley, 2020

    Published in: Journal of Pediatric Gastroenterology and Nutrition, 70 (2020) 6

  14. Maroofian, Reza; Schuele, Isabel; Najafi, Maryam; Bakey, Zeineb; Rad, Abolfazl; Antony, Dinu; Habibi, Haleh; Schmidts, Miriam

    Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

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    Elsevier BV, 2018

    Published in: Kidney International Reports, 3 (2018) 6, Seite 1454-1463

  16. Dilaver, Nafi; Mazaheri, Neda; Maroofian, Reza; Zeighami, Jawaher; Seifi, Tahere; Zamani, Mina; Sedaghat, Alireza; Shariati, Gholam Reza; Galehdari, Hamid

    Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy

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    S. Karger AG, 2018

    Published in: Molecular Syndromology, 9 (2018) 1, Seite 25-29

  18. Bucknor, Eboni M. V.; Johnson, Errin; Efthymiou, Stephanie; Alvi, Javeria R.; Sultan, Tipu; Houlden, Henry; Maroofian, Reza; Karimiani, Ehsan G.; Finelli, Mattéa J.; Oliver, Peter L.

    Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum

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    MDPI AG, 2024

    Published in: Antioxidants, 13 (2024) 6, Seite 685

  19. Magrinelli, Francesca; Bhatia, Kailash P.; Beiraghi Toosi, Mehran; Arab, Fatemeh; Karimiani, Ehsan Ghayoor; Sedighzadeh, Sahar; Ansari, Behnaz; Neshatdoust, Maedeh; Rocca, Clarissa; Houlden, Henry; Maroofian, Reza

    Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

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    Wiley, 2023

    Published in: Movement Disorders Clinical Practice, 10 (2023) 1, Seite 101-108

  20. Scala, Marcello; Efthymiou, Stephanie; Sultan, Tipu; De Waele, Jolien; Panciroli, Marta; Salpietro, Vincenzo; Maroofian, Reza; Striano, Pasquale; Van Petegem, Filip; Houlden, Henry; Bosmans, Frank

    Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function

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    Wiley, 2021

    Published in: Epilepsia, 62 (2021) 6