Andrés Moreno-De-Luca

Biochemistry, 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 15 papers. Top paper: “Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population”.

Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population

Genetics in Medicine(2022)10.1016/j.gim.2022.05.006

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0DataRank · unranked

33 citations

Hermela Shimelis, Andrés Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter +4 more

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51634

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0DataRank · unranked

24 citations

Joshua G. Pemberton, Elizabeth Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi +13 more

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome

Genetics in Medicine(2022)10.1016/j.gim.2022.09.011

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10 citations

Brenda Finucane, Andrés Moreno-De-Luca, Lauren K. Walsh, Christa Lese Martin, David H. Ledbetter +1 more

Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population

medRxiv(2022)10.1101/2022.01.31.22269926

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0DataRank · unranked

0 citations

Hermela Shimelis, Andrés Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter +4 more

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Nature Medicine(2023)10.1038/s41591-023-02238-2

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0DataRank · unranked

20 citations

Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir G. Gainullin, Andrew T. Timberlake +31 more

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Nature Communications(2023)10.1038/s41467-023-43062-z

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0DataRank · unranked

27 citations

Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau +61 more

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Brain(2023)10.1093/brain/awad405

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0DataRank · unranked

18 citations

Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma +25 more

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

JAMA Network Open(2023)10.1001/jamanetworkopen.2023.43384

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0DataRank · unranked

13 citations

Neel H. Mehta, Garrett Allington, Sheng Chih Jin, Andrés Moreno-De-Luca, Kristopher T. Kahle +1 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

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0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

It's time to offer genetic testing to all individuals diagnosed with cerebral palsy

Parkinsonism & Related Disorders(2023)10.1016/j.parkreldis.2023.105449

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0DataRank · unranked

3 citations

Andrés Moreno-De-Luca

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.18.532837

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0DataRank · unranked

3 citations

Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau +58 more

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

medRxiv(2023)10.1101/2023.03.19.23287455

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0DataRank · unranked

1 citations

Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib +24 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

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0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Brain(2024)10.1093/brain/awae175

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0DataRank · unranked

21 citations

Bettina Jux, Shujuan Zhao, Kedous Y. Mekbib, Evan Dennis, Weilai Dong +25 more

De novo variants disrupt an LDB1 -regulated transcriptional network in congenital ventriculomegaly

Brain(2024)10.1093/brain/awae395

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0DataRank · unranked

5 citations

Neel H. Mehta, Evan Dennis, Kedous Y. Mekbib, Benjamin C. Reeves, Emre Kiziltug +15 more