C. R. Boustred

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 9 papers. Top paper: “An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy”.

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

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013

N/A

0DataRank · unranked

36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

Mendelian gene identification through mouse embryo viability screening

Genome Medicine(2022)10.1186/s13073-022-01118-7

N/A

0DataRank · unranked

15 citations

Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz‐Fuentes +95 more

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Genetics in Medicine(2022)10.1016/j.gim.2021.12.014

N/A

0DataRank · unranked

13 citations

Maria Toms, Rodrigo Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks +70 more

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Brain(2023)10.1093/brain/awad240

N/A

0DataRank · unranked

72 citations

Stefania Magri, Riccardo Curró, Elena Abati, Stefano Facchini, Marinella Corbetta +95 more

The genomic landscape of familial glioma

Science Advances(2023)10.1126/sciadv.ade2675

N/A

0DataRank · unranked

50 citations

Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E. Plon, Terence C. Wong +85 more

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Brain(2023)10.1093/brain/awad050

N/A

0DataRank · unranked

28 citations

Kristina Ibáñez, Anna‐Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos +94 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

0DataRank · unranked

23 citations

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

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease

Journal of Nephrology(2025)10.1007/s40620-025-02211-x

N/A

0DataRank · unranked

0 citations

Kane E. Collins, Sophia Heneghan, Edmund Gilbert, Hana Yang, Sarah R. Senum +82 more