Rauan Kaiyrzhanov

Also affiliated with Boston Children's Hospital, Texas Christian University, Children's Hospital of Philadelphia, Garvan Institute of Medical Research, Baylor College of Medicine, Scarborough General Hospital, New England Cancer Specialists, MaineHealth, Amsterdam Neuroscience, Seattle Children's Hospital, South Kazakhstan Medical Academy, Neurological Research Institute, Texas Children's Hospital, Elisabeth-TweeSteden Ziekenhuis, Murdoch Children's Research Institute, National Hospital for Neurology and Neurosurgery, Barbara Bush Children’s Hospital, University College London, University of Pennsylvania, University of Oklahoma

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 19 papers. Top paper: “Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets”.

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

JAMA Neurology(2021)10.1001/jamaneurol.2020.5257

N/A

4.5DataRank · unranked

205 citations

David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina Hertfelder Reynolds +85 more

Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Nature Communications(2021)10.1038/s41467-021-26280-1

N/A

0.808DataRank · unranked

217 citations

Demis A. Kia, Mona M. Almramhi, Sara Bandres-Ciga, Chris Finan, Alastair J. Noyce +170 more

The Global Landscape of Genetic Variation in Parkinson’s disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

medRxiv(2025)10.1101/2025.07.08.25330815

N/A

0.312DataRank · unranked

7 citations

Zih‐Hua Fang, Mary B. Makarious, Nicole Kuznetsov, Kajsa Brolin, Shannon Ballard +41 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

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0.269DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034

N/A

0DataRank · unranked

8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

Attitudes of Parents of Children with Rare Neurological Disorders Toward Clinical Genetic Testing

Research Square(2023)10.21203/rs.3.rs-3266696/v1

N/A

0DataRank · unranked

0 citations

Ulviyya Guliyeva, Sugra Guliyeva, Rauan Kaiyrzhanov, Ulviyya Aslanova, Narmin Guliyeva +3 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders(2025)10.1002/mds.30326

N/A

0DataRank · unranked

0 citations

Pilar Álvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Breeana Baker +9 more

The LRRK2 p.A419V variant associates with risk of Parkinson’s disease in the East Asian population and an evaluation on age of onset

medRxiv(2025)10.1101/2025.08.28.25333987

N/A

0DataRank · unranked

0 citations

María Teresa Periñán, Elaine Guo Yan Chew, Paul Suhwan Lee, Fulya Akçimen, Jia Lun Lim +26 more

Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan

Seizure(2025)10.1016/j.seizure.2025.09.001

N/A

0DataRank · unranked

0 citations

Nana Nino Tatishvili, Kamran Salayev, Rauan Kaiyrzhanov, Semra Hız, Kerim Münir +6 more

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

0DataRank · unranked

43 citations

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

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Clinical Genetics(2020)10.1111/cge.13877

N/A

0DataRank · unranked

11 citations

Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana Chilton +7 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010

N/A

0DataRank · unranked

39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more