Emmanuèle C. Délot

Southern California Clinical and Translational Science Institute

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 17 papers. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

nanotatoR: a tool for enhanced annotation of genomic structural variants

BMC Genomics(2021)10.1186/s12864-020-07182-w

N/A

0.505DataRank · unranked

11 citations

Hayk Barseghyan, Emmanuèle C. Délot, Éric Vilain, Surajit Bhattacharya

Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic

BMC Medical Genomics(2023)10.1186/s12920-023-01707-4

N/A

0.434DataRank · unranked

17 citations

Surajit Bhattacharya, Nickie Andescavage, Miguel Almalvez, Diedtra Henderson, Éric Vilain +3 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant

Journal of the Endocrine Society(2022)10.1210/jendso/bvac127

N/A

0.360DataRank · unranked

10 citations

Vipula Kolli, Melissa Andrew, Seth Berger, Tricia Bhatti, Alison M. Boyce +11 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Benchmarking long-read genome sequence alignment tools for human genomics applications

PeerJ(2023)10.7717/peerj.16515

N/A

0.360DataRank · unranked

10 citations

Emmanuèle C. Délot, Éric Vilain, Jonathan LoTempio

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574

N/A

0.269DataRank · unranked

5 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Identification of de novo variants from parent-proband duos via long-read sequencing

medRxiv(2025)10.1101/2025.02.24.25322424

N/A

0DataRank · unranked

0 citations

Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Primo Baybayan +12 more

nanotatoR : A tool for enhanced annotation of genomic structural variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.18.254680

N/A

0DataRank · unranked

0 citations

Hayk Barseghyan, Emmanuèle C. Délot, Éric Vilain, Surajit Bhattacharya

Using a chat-based informed consent tool in large-scale genomic research

Journal of the American Medical Informatics Association(2023)10.1093/jamia/ocad181

N/A

0DataRank · unranked

20 citations

Jonathan LoTempio, Erica D. Smith, E. Hallie Andrew, Glòria Mas Martín, Amanda Kahn-Kirby +8 more

Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development

Biology of Sex Differences(2024)10.1186/s13293-024-00599-y

N/A

0DataRank · unranked

6 citations

Emmanuèle C. Délot, Alejandra P. Reyes, Janelle Ryan, Surajit Bhattacharya, Vincent R. Harley +2 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325

N/A

0DataRank · unranked

3 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Technical considerations for placental tissue processing and the subsequent impact on genome-wide DNA methylation analysis

Clinical Epigenetics(2024)10.1186/s13148-024-01741-8

N/A

0DataRank · unranked

0 citations

Julius S. Ngwa, Kushal Kapse, Surajit Bhattacharya, Christopher Rossi, Emmanuèle C. Délot +4 more

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.002

N/A

0DataRank · unranked

42 citations

Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich +18 more

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

International Journal of Neonatal Screening(2020)10.3390/ijns6020037

N/A

0DataRank · unranked

34 citations

Reeti Chawla, Ming Chen, Alicia Diaz-Thomas, Courtney Finlayson, Meilan M. Rutter +7 more