Salmo Raskin

Also affiliated with Genetikum, Universidade Federal do Paraná

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

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: “Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity”.

Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

UNC Libraries(2020)10.17615/mb8t-wh97

N/A

0DataRank · unranked

4 citations

Anna Schossig, John Hardy, Katharina Wimmer, Michael B. Tennison, Ian Hayes +25 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0DataRank · unranked

37 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

Revista Paulista de Pediatria(2023)10.1590/1984-0462/2023/41/2022057

N/A

0DataRank · unranked

2 citations

Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez +5 more

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather

Clinical Genetics(2025)10.1111/cge.70010

N/A

0DataRank · unranked

1 citations

Tomasz Gambin, Michał Kadlof, Michał Denkiewicz, Dariusz Plewczyński, Hyun Jeong Kim +5 more

Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic Stages

The Cerebellum(2025)10.1007/s12311-025-01918-8

N/A

0DataRank · unranked

1 citations

Andressa Aline Vieira, Walter O. Arruda, Gustavo L. Franklin, Gustavo da Cunha Ribas, João Filipe de Oliveira +6 more

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

Investigative Ophthalmology & Visual Science(2025)10.1167/iovs.66.14.28

N/A

0DataRank · unranked

0 citations

James G. Bellingham, Fabiana Louise Motta, Neringa Jurkutė, Salmo Raskin, Fabiana Ramos +5 more