🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Emanuela Argilli

University of California, San Francisco

ORCID: 0000-0002-6575-7501
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 14 papers. Top paper: “Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders”.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003
N/A
0DataRank · unranked
46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.024
N/A
0DataRank · unranked
17 citations

Shabab B. Hannan, Sarah Dyack, Sara MacKay, Ulrich A. Schatz, Martin Fleger +41 more

Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys

Molecular Autism(2021)10.1186/s13229-021-00442-w
N/A
0DataRank · unranked
14 citations

Catherine F. Talbot, Emanuela Argilli, Alyssa C. Maness, Sierra M. V. Simmons, Noreen Mohsin +6 more

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Nature Communications(2022)10.1038/s41467-022-34264-y
N/A
0DataRank · unranked
45 citations

Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel +32 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330
N/A
0DataRank · unranked
32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005
N/A
0DataRank · unranked
23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities

Pediatric Neurology(2022)10.1016/j.pediatrneurol.2022.03.005
N/A
0DataRank · unranked
0 citations

Emanuela Argilli, Elliott H. Sherr, Kenneth A. Myers, Lyna Siafa

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403
N/A
0DataRank · unranked
27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222
N/A
0DataRank · unranked
6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

Journal of Medical Genetics(2023)10.1136/jmg-2023-109293
N/A
0DataRank · unranked
3 citations

Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Le Roux, Cyril Mignot +17 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008
N/A
0DataRank · unranked
24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856
N/A
0DataRank · unranked
2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010
N/A
0DataRank · unranked
1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

medRxiv(2025)10.1101/2025.05.19.25327541
N/A
0DataRank · unranked
1 citations

Caleb Yang, Carolyn Le, Amanda M. Elashoff, Kendall C. Parks, Clare Bakker +18 more