Fernando Santos‐Simarro

Also affiliated with Hospital La Paz Institute for Health Research

Biochemistry, Genetics and Molecular Biology

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: “PIGNencephalopathy: Characterizing the epileptology”.

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62445

N/A

0DataRank · unranked

27 citations

Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal +29 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genetics in Medicine(2022)10.1016/j.gim.2022.04.010

N/A

0DataRank · unranked

21 citations

Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg +50 more

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272

N/A

0DataRank · unranked

8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 more

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

The American Journal of Human Genetics(2026)10.1016/j.ajhg.2025.12.007

N/A

0DataRank · unranked

0 citations

Andrew Thom, Andreas Rump, Johannes N. Greve, Juan Cadiñanos, Rocco Salvatore Calabrò +46 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more