John C. Ambrose

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