Camilo Toro

National Human Genome Research Institute

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 8 papers. Top paper: “Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST”.

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Movement Disorders(2022)10.1002/mds.29225

N/A

0.464DataRank · unranked

21 citations

Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava +13 more

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Human Molecular Genetics(2022)10.1093/hmg/ddac173

N/A

0DataRank · unranked

13 citations

Matt C. Danzi, André B. P. Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender +13 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

UNC Libraries(2024)10.17615/yhhx-wm40

N/A

0DataRank · unranked

0 citations

Mathew B. Harms, Yuk Yee Leung, Camilo Toro, David R. Adams, Erin L. Heinzen +4 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

Movement Disorders(2025)10.1002/mds.70058

N/A

0DataRank · unranked

4 citations

Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaïd Lagha‐Boukbiza, Zhidong Cen +15 more

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103437

N/A

0DataRank · unranked

1 citations

Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin +37 more