Giovanni Zifarelli

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 18 papers. Top paper: “Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications”.

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0.568DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0.477DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0.385DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

A transposase-derived gene required for human brain development

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.28.538770

N/A

0DataRank · unranked

7 citations

Sara A. Lewis, Rodrigo Lopez Gutierrez, Makiko Yamada, Elias Rodríguez-Fos, Mercè Planas-Fèlix +36 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.002

N/A

0DataRank · unranked

2 citations

Sheng‐Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille +30 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway

Brain(2025)10.1093/brain/awaf202

N/A

0DataRank · unranked

3 citations

Yuri Miyazaki, Daisuke Ishikawa, Hiroki Inahashi, Zuhair N. Al‐Hassnan, Giovanni Zifarelli +20 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4322

N/A

0DataRank · unranked

53 citations

Anna Floriane Hennig, Nina Stelzer, Shroddha Bose, Johannes Kopp, Kent Søe +13 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Brain(2023)10.1093/brain/awad427

N/A

0DataRank · unranked

23 citations

Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian +18 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more