Reza Maroofian

5.9k citations

57 papers · 667 indexed · h-index 15

Co-authors: Ehsan Ghayoor Karimiani Henry Houlden Robert F. Hevner Laura E. Kuil Ray A. M. Daza C. Dirk Keene Giridhar M. Shivaram Herma C. van der Linde
Topics: Genomics and Rare Diseases (9 papers)RNA regulation and disease (8 papers)Neurogenetic and Muscular Disorders Research (7 papers)
Cited by: Neurology Developmental Neuroscience Immunology
Journals: SHILAP Revista de lepidopterologíaScientific Reports The American Journal of Human Genetics
Partner nations: United Kingdom Iran Germany

In The Last Decade

Reza Maroofian

51 papers receiving 664 citations

Peers

Countries citing papers authored by Reza Maroofian

Since Specialization

Citations

This map shows the geographic impact of Reza Maroofian's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Reza Maroofian with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Reza Maroofian more than expected).

Fields of papers citing papers by Reza Maroofian

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Reza Maroofian. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Reza Maroofian. The network helps show where Reza Maroofian may publish in the future.

Co-authorship network of co-authors of Reza Maroofian

This figure shows the co-authorship network connecting the top 25 collaborators of Reza Maroofian. A scholar is included among the top collaborators of Reza Maroofian based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Reza Maroofian. Reza Maroofian is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications 2025 ·Movement Disorders ·Edoardo Monfrini,Paola Rinchetti,Mathieu Anheim,Anna Klingseisen,Ouhaïd Lagha‐Boukbiza,Zhidong Cen,Dehao Yang,Xinhui Chen,Reza Maroofian,Henry Houlden,Gioia Cappelletti,Anne‐Claire Richard,Olivier Quenez,Camilo Toro,Steven J. Frucht,Francesco Lotti,Wei Luo,David Hunt,Gaël Nicolas,Giulietta Riboldi	0
2	Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism 2024 ·European Journal of Human Genetics ·Fatima Rahman,(unknown),(unknown),Abolfazl Rad,(unknown),Gabriela Oprea,Huma Arshad Cheema,Barbara Vona,Cesar Alves,Henry Houlden,Shazia Maqbool,Stéphanie Efthymiou,Thomas Smol,Reza Maroofian	0
3	Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders 2024 ·Neuropediatrics ·Haidar S. Dafsari,(unknown),Kritarth Singh,Reza Maroofian,Michael R. Duchen,Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth,(unknown)	0
4	Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish 2024 ·Brain Communications ·Mohamed S. Abdel‐Hamid,(unknown),Maha S. Zaki,(unknown),(unknown),(unknown),Rún Friðriksdóttir,Patrick Sulem,(unknown),(unknown),(unknown),Fernando Kok,(unknown),Cesar Alves,Henry Houlden,Reza Maroofian,Shunmoogum A. Patten	0
5	Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss 2024 ·Molecular Therapy ·(unknown),(unknown),Mina Zamani,(unknown),(unknown),(unknown),(unknown),Audrey Maudoux,Reza Maroofian,(unknown),Sylvie Nouaille,Michael R. Bowl,Sedigheh Delmaghani,Hamid Galehdari,Barbara Vona,Didier Dulon,Sandrine Vitry,A. Amraoui	10
6	Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn 2023 ·Annals of Clinical and Translational Neurology ·Stéphanie Efthymiou,(unknown),Georgios Koutsis,(unknown),Reza Maroofian,(unknown),Georgios Velonakis,Luiz Felipe Vasconcellos,Salmo Raskin,Varunvenkat M. Srinivasan,Alistair T. Pagnamenta,(unknown),(unknown),(unknown),Hélio Afonso Ghizoni Teive,Henry Houlden	2
7	Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies 2023 ·Brain Communications ·Arman Çakar,Reza Maroofian,Yeşim Parman,Mary M. Reilly,Henry Houlden	0
8	Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 2023 ·European Journal of Human Genetics ·Thomas B. Smith,(unknown),Huw B. Thomas,Kyle Thompson,Monika Oláhová,Reza Maroofian,Mina Zamani,Langping He,Saeid Sadeghian,(unknown),(unknown),Tal Gilboa,Kristin Herman,Thomas J. McCorvie,Wyatt W. Yue,Henry Houlden,Robert W. Taylor,William G. Newman,Raymond T. O’Keefe	3
9	Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly 2023 ·European Journal of Human Genetics ·(unknown),Barbara Vona,(unknown),F.M. Sonmez,Thomas Smol,(unknown),(unknown),(unknown),Odile Boute,Meysam Moghbeli,Ehsan Ghayoor Karimiani,(unknown),(unknown),(unknown),Reza Maroofian,Ahmet Yeşilyurt	4
10	Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review 2022 ·Movement Disorders Clinical Practice ·Francesca Magrinelli,Kailash P. Bhatia,Mehran Beiraghi Toosi,(unknown),Ehsan Ghayoor Karimiani,(unknown),Behnaz Ansari,(unknown),Clarissa Rocca,Henry Houlden,Reza Maroofian	2
11	Heterozygous EIF2AK2 Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to DBS 2021 ·Movement Disorders Clinical Practice ·Francesca Magrinelli,(unknown),Mériem Tazir,(unknown),(unknown),Kailash P. Bhatia,Reza Maroofian,Henry Houlden	8
12	PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations 2020 ·Clinical Genetics ·(unknown),Rauan Kaiyrzhanov,Reza Maroofian,Thi Tuyet Mai Nguyen,Kamran Salayev,(unknown),Wendy K. Chung,Jill A. Madden,Chanika Phornphutkul,Pankaj B. Agrawal,Henry Houlden,Philippe M. Campeau	6
13	Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 2020 ·European Journal of Human Genetics ·(unknown),Matias Wagner,Julia Hoefele,Anja Heinze,Timo Roser,Margarete Koch‐Hogrebe,Stefan D. Roosendaal,Mohammadreza Dehghani,Mohammad Yahya Vahidi Mehrjardi,Erin Torti,Henry Houlden,Reza Maroofian,(unknown),Heinrich Sticht,Frank Baas,Dagmar Wieczorek,Rami Abou Jamra	17
14	Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 2020 ·Genetics in Medicine ·Daniel P. S. Osborn,(unknown),Joshua S. Clayton,Mehrnoush Toufan,(unknown),Reza Maroofian,(unknown),(unknown),Hamid Galehdari,(unknown),Gholamreza Shariati,Neda Mazaheri,Alireza Sedaghat,Hayley Goullée,Nigel G. Laing,Yalda Jamshidi,Homa Tajsharghi	16
15	Further supporting evidence for REEP1 phenotypic and allelic heterogeneity 2019 ·Neurology Genetics ·Reza Maroofian,Mahdiyeh Behnam,Rauan Kaiyrzhanov,Vincenzo Salpietro,(unknown),Henry Houlden	3
16	Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia 2019 ·The American Journal of Human Genetics ·Nynke Oosterhof,Irene J. Chang,Ehsan Ghayoor Karimiani,Laura E. Kuil,Dana M. Jensen,Ray A. M. Daza,Erica P. Young,(unknown),Herma C. van der Linde,Giridhar M. Shivaram,Jeroen Demmers,Caitlin S. Latimer,C. Dirk Keene,(unknown),Reza Maroofian,Tjakko J. van Ham,Robert F. Hevner,James T. Bennett	176
17	Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia 2019 ·The American Journal of Human Genetics ·Ariana Kariminejad,Emmanuelle Szenker‐Ravi,(unknown),Homa Tajsharghi,Ali‐Reza Moslemi,Thomas Naert,Hong Thi Tran,(unknown),Minoo Rajaei,(unknown),Thomas Haaf,(unknown),Andrea Superti‐Furga,Reza Maroofian,Siavash Ghaderi‐Sohi,Hossein Najmabadi,Mohammad Reza Abbaszadegan,Kris Vleminckx,Pooneh Nikuei,Bruno Reversade	16
18	Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity 2018 ·European Journal of Medical Genetics ·(unknown),Mohammad Yahya Vahidi Mehrjardi,Nafi Dilaver,(unknown),(unknown),(unknown),Mahsa M. Amoli,I. Sadaf Farooqi,Reza Maroofian	14
19	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 2018 ·Kidney International Reports ·Reza Maroofian,(unknown),Maryam Najafi,Zeineb Bakey,Abolfazl Rad,Dinu Antony,(unknown),Miriam Schmidts	9
20	Novel EYA1 variants causing Branchio-oto-renal syndrome 2017 ·International Journal of Pediatric Otorhinolaryngology ·(unknown),(unknown),Selçuk Arslan,(unknown),Hakan Gürkan,Selma Demır,Reza Maroofian,(unknown),(unknown),(unknown),Nursel Elçioğlu,Ibis Menéndez,Mahdiyeh Behnam,Joseph Foster,Shengru Guo,(unknown),Filiz Başak Cengiz,Duygu Duman,Güney Bademci,Mustafa Tekin	15

About Reza Maroofian

Reza Maroofian is a scholar working on Neurology, Genetics and Genetics, having authored 57 papers that have together received 667 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (9 papers), RNA regulation and disease (8 papers) and Neurogenetic and Muscular Disorders Research (7 papers). The work is most often cited by research in Neurology (165 citations), Developmental Neuroscience (39 citations) and Immunology (109 citations). Reza Maroofian has collaborated with scholars based in United Kingdom, Iran and Germany. Frequent co-authors include Ehsan Ghayoor Karimiani, Henry Houlden, Robert F. Hevner, Laura E. Kuil, Ray A. M. Daza, C. Dirk Keene, Giridhar M. Shivaram, Herma C. van der Linde, Irene J. Chang and Dana M. Jensen. Their work appears in journals such as SHILAP Revista de lepidopterología, Scientific Reports and The American Journal of Human Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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