Reza Maroofian

ScholarGPS® ID: 33324325559660

Affiliation

University College London, London, United Kingdom, United Kingdom

Affiliation History

Field

Medicine

Discipline

Neurology

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

1,572

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum (journal article) 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. Antioxidants, volume 13, issue 6, pages 685- (2024). 10.3390/antiox13060685 Cite \| Source
Distinct Genetic Distribution of Distal Hereditary Motor Neuropathy in Turkey: A Single Centre Experience (P2-11.009) (journal article) Cakar, Arman \| Candayan, Ayse \| Maroofian, Reza \| Durmus, Hacer \| Houlden, Henry \| Battaloglu, Esra \| Parman, Fatma Yesim Neurology, volume 102, issue 17_supplement_1 (2024). 10.1212/WNL.0000000000206111 Cite \| Source
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome (journal article) Koparir, Asuman \| Lekszas, Caroline \| Keseroglu, Kemal \| Rose, Thalia \| Rappl, Lena \| Rad, Aboulfazl \| Maroofian, Reza \| Narendran, Nakul \| Hasanzadeh, Atefeh \| Karimiani, Ehsan Ghayoor \| ... \| Liedtke, Daniel Human Genomics, volume 18, issue 1 (2024). 10.1186/s40246-024-00593-w Cite \| Source
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss (journal article) Mendia, Clara \| Peineau, Thibault \| Zamani, Mina \| Felgerolle, Chloé \| Yahiaoui, Nawal \| Christophersen, Nele \| Papal, Samantha \| Maudoux, Audrey \| Maroofian, Reza \| Patni, Pranav \| ... \| El-Amraoui, Aziz Molecular Therapy, volume 32, issue 3, pages 800-817 (2024). 10.1016/j.ymthe.2024.01.021 Cited by (1) \| Cite \| Source
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly (journal article) Uctepe, Eyyup \| Vona, Barbara \| Esen, Fatma Nisa \| Sonmez, F. Mujgan \| Smol, Thomas \| Tümer, Sait \| Mancılar, Hanifenur \| Geylan Durgun, Dilan Ece \| Boute, Odile \| Moghbeli, Meysam \| ... \| Yesilyurt, Ahmet European Journal of Human Genetics, volume 32, issue 1, pages 52-60 (2024). 10.1038/s41431-023-01461-2 Cited by (3) \| Cite \| Source
Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies (journal article) Cakar, Arman \| Maroofian, Reza \| Parman, Yesim \| Reilly, Mary M \| Houlden, Henry Brain Communications, volume 6, issue 1 (2023). 10.1093/braincomms/fcae003 Cite \| Source
Recessive variants in SLC9A1 cause a syndrome of cerebellar ataxia, amelogenesis imperfecta and variable sensorineural hearing loss (journal article) Ceravolo, Giorgia \| Pellerin, David \| Maroofian, Reza \| Houlden, Henry Journal of the Neurological Sciences, volume 455 (2023). 10.1016/j.jns.2023.121930 Cite \| Source
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 (journal article) Smith, Thomas B. \| Rea, Alessandro \| Thomas, Huw B. \| Thompson, Kyle \| Oláhová, Monika \| Maroofian, Reza \| Zamani, Mina \| He, Langping \| Sadeghian, Saeid \| Galehdari, Hamid \| ... \| O’Keefe, Raymond T. European Journal of Human Genetics, volume 31, issue 10, pages 1190-1194 (2023). 10.1038/s41431-023-01437-2 Cited by (3) \| Cite \| Source
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn (journal article) Efthymiou, Stephanie \| Novis, Luiz E. \| Koutsis, Georgios \| Koniari, Chrysoula \| Maroofian, Reza \| Turchetti, Valentina \| Velonakis, Georgios \| Vasconcellos, Luiz F. \| Raskin, Salmo \| Srinivasan, Varunvenkat M. \| ... \| Houlden, Henry Annals of Clinical and Translational Neurology, volume 10, issue 10, pages 1910-1916 (2023). 10.1002/acn3.51874 Cited by (1) \| Cite \| Source
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder (journal article) Maroofian, Reza \| Efthymiou, Stephanie \| Suri, Mohnish \| Rahman, Fatima \| Zaki, Maha S \| Maqbool, Shazia \| Anwa, Najwa \| Ruiz-Pérez, Victor L \| Yanovsky-Dagan, Shira \| Elpeleg, Orly \| ... \| Houlden, Henry Journal of Medical Genetics, volume 60, issue 8, pages 791-796 (2023). 10.1136/jmg-2022-108566 Cited by (1) \| Cite \| Source
Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review (journal article) 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 Movement Disorders Clinical Practice, volume 10, issue 1, pages 101-108 (2023). 10.1002/mdc3.13529 Cited by (2) \| Cite \| Source
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease (journal article) Nagy, Sara \| Lau, Tracy \| Alavi, Shahryar \| Karimiani, Ehsan Ghayoor \| Vallian, Jalal \| Ng, Bobby G. \| Noroozi Asl, Samaneh \| Akhondian, Javad \| Bahreini, Amir \| Yaghini, Omid \| ... \| Maroofian, Reza Clinical Genetics, volume 102, issue 6, pages 530-536 (2022). 10.1111/cge.14208 Cited by (1) \| Cite \| Source
Variable skeletal phenotypes associated with biallelic variants in PRKG2 (journal article) Pagnamenta, Alistair T \| Diaz-Gonzalez, Francisca \| Banos-Pinero, Benito \| Ferla, Matteo P \| Toosi, Mehran B \| Calder, Alistair D \| Karimiani, Ehsan G \| Doosti, Mohammad \| Wainwright, Andrew \| Wordsworth, Paul \| ... \| Taylor, Jenny C Journal of Medical Genetics, volume 59, issue 10, pages 947-950 (2022). 10.1136/jmedgenet-2021-108027 Cited by (6) \| Cite \| Source
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy (journal article) 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 \| ... \| Maroofian, Reza Annals of Clinical and Translational Neurology, volume 9, issue 9, pages 1345-1358 (2022). 10.1002/acn3.51634 Cited by (12) \| Cite \| Source
Bi-allelic LETM1 variants perturb mitochondrial cation homeostasis leading to a multisystemic mitochondrial disorder (journal article) Mohammed, Sami E.M. \| Kaiyrzhanov, Rauan \| Maroofian, Reza \| Spinazzola, Antonella \| Houlden, Henry \| Nowikovsky, Karin Biochimica et Biophysica Acta (BBA) - Bioenergetics, volume 1863 (2022). 10.1016/j.bbabio.2022.148859 Cite \| Source
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment (journal article) Bahena, Paulina \| Daftarian, Narsis \| Maroofian, Reza \| Linares, Paola \| Villalobos, Daniel \| Mirrahimi, Mehraban \| Rad, Aboulfazl \| Doll, Julia \| Hofrichter, Michaela A. H. \| Koparir, Asuman \| ... \| Haaf, Thomas Human Genetics, volume 141, issue 3-4, pages 785-803 (2022). 10.1007/s00439-021-02303-1 Cited by (6) \| Cite \| Source
Heterozygous EIF2AK2 Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to DBS (journal article) Magrinelli, Francesca \| Moualek, Dalila \| Tazir, Meriem \| Pacha, Lamia Ali \| Verghese, Alice \| Bhatia, Kailash P. \| Maroofian, Reza \| Houlden, Henry Movement Disorders Clinical Practice, volume 9, issue 2, pages 268-271 (2022). 10.1002/mdc3.13371 Cited by (9) \| Cite \| Source
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal (journal article) Torraco, Alessandra \| Maroofian, Reza \| Rötig, Agnès \| Bertini, Enrico \| Ghezzi, Daniele \| Carrozzo, Rosalba \| Diodato, Daria Human Mutation, volume 43, issue 1, pages 99-100 (2022). 10.1002/humu.24303 Cite \| Source
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (journal article) Pottie, Lore \| Adamo, Christin S. \| Beyens, Aude \| Lütke, Steffen \| Tapaneeyaphan, Piyanoot \| De Clercq, Adelbert \| Salmon, Phil L. \| De Rycke, Riet \| Gezdirici, Alper \| Gulec, Elif Yilmaz \| ... \| Callewaert, Bert The American Journal of Human Genetics, volume 108, issue 12, pages 2386-2388 (2021). 10.1016/j.ajhg.2021.11.009 Cited by (5) \| Cite \| Source
A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities (journal article) Kaiyrzhanov, Rauan \| Zaki, Maha S. \| Maroofian, Reza \| Dominik, Natalia \| Rad, Aboulfazl \| Vona, Barbara \| Houlden, Henry Movement Disorders Clinical Practice, volume 8, issue 7, pages 1140-1143 (2021). 10.1002/mdc3.13310 Cited by (3) \| Cite \| Source