Alba Sanchis-Juan

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 7 papers. Top paper: “De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy”.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

medRxiv(2022)10.1101/2022.08.15.22278795

N/A

0DataRank · unranked

2 citations

Sarah W. Curtis, Alba Sanchis-Juan, Xuefang Zhao, S. Taylor Head, Samantha Ho +18 more

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

Genetics in Medicine(2023)10.1016/j.gim.2023.100918

N/A

0DataRank · unranked

22 citations

Sarah W. Curtis, Alba Sanchis-Juan, Xuefang Zhao, S. Taylor Head, Samantha Ho +18 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Nature Genetics(2024)10.1038/s41588-024-01808-5

N/A

0DataRank · unranked

34 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung +95 more

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans

Human Molecular Genetics(2025)10.1093/hmg/ddaf163

N/A

0DataRank · unranked

0 citations

Cinderella Yang, Alba Sanchis-Juan, Katherine Singleton, Terri H. Beaty, Florian Erger +16 more