Reza Maroofian

5.9k citations

57 papers · 667 indexed · h-index 15

Neurology top 5%
- Neurological diseases and metabolism 6
Developmental Neuroscience top 10%
Immunology
Genetics
- Genomics and Rare Diseases 9
- Neurogenetic and Muscular Disorders Research 7
- Genetic Syndromes and Imprinting 4
Molecular Biology
- RNA regulation and disease 8
- Ion channel regulation and function 5
Cell Biology
- Cellular transport and secretion 7
Cardiology and Cardiovascular Medicine
- Cardiomyopathy and Myosin Studies 5

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
Cited by: Neurology Developmental Neuroscience Immunology
Journals: SHILAP Revista de lepidopterología (1 paper)Scientific Reports (1 paper)The American Journal of Human Genetics (4 papers)
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

The 25 scholars most cited alongside Reza Maroofian, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Reza Maroofian Line = papers co-authored together Reza Maroofian links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications 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	2025	0
2	Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism European Journal of Human Genetics ·Fatima Rahman,Luisa Marsili,Domizia Pasquetti,Abolfazl Rad,Muhammad Nadeem Anjum,Gabriela Oprea,Huma Arshad Cheema,Barbara Vona,Cesar Alves,Henry Houlden,Shazia Maqbool,Stéphanie Efthymiou,Thomas Smol,Reza Maroofian	2024	0
3	Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders Neuropediatrics ·Haidar S. Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian,Michael R. Duchen,Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth,(unknown)	2024	0
4	Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish Brain Communications ·Mohamed S. Abdel‐Hamid,Adeline Paimboeuf,Maha S. Zaki,Fernanda Barbosa Figueiredo,Sherif F. Abdel‐Ghafar,Sabrina Maher,Rún Friðriksdóttir,Patrick Sulem,Hákon Björn Högnason,Sigrún Hallgrímsdóttir,Catarina Falleiros Nogueira Rojas,Fernando Kok,Mohnish Suri,Cesar Alves,Henry Houlden,Reza Maroofian,Shunmoogum A. Patten	2024	0
5	Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss Molecular Therapy ·Clara Mendia,Thibault Peineau,Mina Zamani,Chloé Felgerolle,Nawal Yahiaoui,Nele Christophersen,Samantha Papal,Audrey Maudoux,Reza Maroofian,Pranav Patni,Sylvie Nouaille,Michael R. Bowl,Sedigheh Delmaghani,Hamid Galehdari,Barbara Vona,Didier Dulon,Sandrine Vitry,A. Amraoui	2024	10
6	Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn Annals of Clinical and Translational Neurology ·Stéphanie Efthymiou,Luiz Eduardo Novis,Georgios Koutsis,Chrysoula Koniari,Reza Maroofian,Valentina Turchetti,Georgios Velonakis,Luiz Felipe Vasconcellos,Salmo Raskin,Varunvenkat M. Srinivasan,Alistair T. Pagnamenta,Yaramanchanahalli B. Arun,Uddhava V. Kinhal,Vykuntaraju K. Gowda,Hélio Afonso Ghizoni Teive,Henry Houlden	2023	2
7	Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies Brain Communications ·Arman Çakar,Reza Maroofian,Yeşim Parman,Mary M. Reilly,Henry Houlden	2023	0
8	Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 European Journal of Human Genetics ·Thomas B. Smith,Alessandro Rea,Huw B. Thomas,Kyle Thompson,Monika Oláhová,Reza Maroofian,Mina Zamani,Langping He,Saeid Sadeghian,Hamid Galehdari,Nava Shaul Lotan,Tal Gilboa,Kristin Herman,Thomas J. McCorvie,Wyatt W. Yue,Henry Houlden,Robert W. Taylor,William G. Newman,Raymond T. O’Keefe	2023	3
9	Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly European Journal of Human Genetics ·Eyyüp Üçtepe,Barbara Vona,Fatma Nisa Esen,F.M. Sonmez,Thomas Smol,Sait Tümer,Hanifenur Mancılar,Dilan Ece Geylan Durgun,Odile Boute,Meysam Moghbeli,Ehsan Ghayoor Karimiani,Narges Hashemi,Behnoosh Bakhshoodeh,Hyung Goo Kim,Reza Maroofian,Ahmet Yeşilyurt	2023	4
10	Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review Movement Disorders Clinical Practice ·Francesca Magrinelli,Kailash P. Bhatia,Mehran Beiraghi Toosi,Fatemeh Arab,Ehsan Ghayoor Karimiani,Sahar Sedighzadeh,Behnaz Ansari,Maedeh Neshatdoust,Clarissa Rocca,Henry Houlden,Reza Maroofian	2022	2
11	Heterozygous EIF2AK2 Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to DBS Movement Disorders Clinical Practice ·Francesca Magrinelli,Dalila Moualek,Mériem Tazir,Lamia Ali Pacha,Alice Verghese,Kailash P. Bhatia,Reza Maroofian,Henry Houlden	2021	8
12	PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations Clinical Genetics ·Camille Tremblay‐Laganière,Rauan Kaiyrzhanov,Reza Maroofian,Thi Tuyet Mai Nguyen,Kamran Salayev,Ilana Chilton,Wendy K. Chung,Jill A. Madden,Chanika Phornphutkul,Pankaj B. Agrawal,Henry Houlden,Philippe M. Campeau	2020	6
13	Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 European Journal of Human Genetics ·Bart Appelhof,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,Farrah Rajabi,Heinrich Sticht,Frank Baas,Dagmar Wieczorek,Rami Abou Jamra	2020	17
14	Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 Genetics in Medicine ·Daniel P. S. Osborn,Leila Emrahi,Joshua S. Clayton,Mehrnoush Toufan,Alex Yui Bong Wan,Reza Maroofian,Mohammad Reza Yazdchi,Michael Leon Enrique Garcia,Hamid Galehdari,Camila Hesse,Gholamreza Shariati,Neda Mazaheri,Alireza Sedaghat,Hayley Goullée,Nigel G. Laing,Yalda Jamshidi,Homa Tajsharghi	2020	16
15	Further supporting evidence for REEP1 phenotypic and allelic heterogeneity Neurology Genetics ·Reza Maroofian,Mahdiyeh Behnam,Rauan Kaiyrzhanov,Vincenzo Salpietro,Mansour Salehi,Henry Houlden	2019	3
16	Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia 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,Lee Astle,Herma C. van der Linde,Giridhar M. Shivaram,Jeroen Demmers,Caitlin S. Latimer,C. Dirk Keene,Emily Loter,Reza Maroofian,Tjakko J. van Ham,Robert F. Hevner,James T. Bennett	2019	176
17	Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia The American Journal of Human Genetics ·Ariana Kariminejad,Emmanuelle Szenker‐Ravi,Caroline Lekszas,Homa Tajsharghi,Ali‐Reza Moslemi,Thomas Naert,Hong Thi Tran,Fatemeh Ahangari,Minoo Rajaei,Mojila Nasseri,Thomas Haaf,Afrooz Azad,Andrea Superti‐Furga,Reza Maroofian,Siavash Ghaderi‐Sohi,Hossein Najmabadi,Mohammad Reza Abbaszadegan,Kris Vleminckx,Pooneh Nikuei,Bruno Reversade	2019	16
18	Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity European Journal of Medical Genetics ·Mohammadreza Dehghani,Mohammad Yahya Vahidi Mehrjardi,Nafi Dilaver,Masoud Tajamolian,Samaneh Enayati,Pirooz Ebrahimi,Mahsa M. Amoli,I. Sadaf Farooqi,Reza Maroofian	2018	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 Kidney International Reports ·Reza Maroofian,Isabel Schuele,Maryam Najafi,Zeineb Bakey,Abolfazl Rad,Dinu Antony,Haleh Habibi,Miriam Schmidts	2018	9
20	Novel EYA1 variants causing Branchio-oto-renal syndrome International Journal of Pediatric Otorhinolaryngology ·Kyle D. Klingbeil,Christopher M. Greenland,Selçuk Arslan,Arianne Llamos Paneque,Hakan Gürkan,Selma Demır,Reza Maroofian,Andrea Carrera-Gonzalez,Stefany Montufar-Armendariz,Rosario Paredes,Nursel Elçioğlu,Ibis Menéndez,Mahdiyeh Behnam,Joseph Foster,Shengru Guo,Sebastian Escarfuller,Filiz Başak Cengiz,Duygu Duman,Güney Bademci,Mustafa Tekin	2017	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), Neurogenetic and Muscular Disorders Research (7 papers), Cellular transport and secretion (7 papers), Neurological diseases and metabolism (6 papers), Cardiomyopathy and Myosin Studies (5 papers), Ion channel regulation and function (5 papers) and Genetic Syndromes and Imprinting (4 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.

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