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

Alysia Kern Lovgren

Broad Institute

ORCID: 0000-0002-7377-6913

Also affiliated with Broad Center

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 8 papers. Top paper: “Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly”.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron(2020)10.1016/j.neuron.2020.10.035
N/A
0DataRank · unranked
59 citations

A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss +32 more

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

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation(2022)10.1002/humu.24366
N/A
0DataRank · unranked
112 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 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

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

medRxiv(2023)10.1101/2023.08.22.23294267
N/A
0DataRank · unranked
1 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 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

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013
N/A
0DataRank · unranked
25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

iScience(2024)10.1016/j.isci.2024.109984
N/A
0DataRank · unranked
4 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more