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

Emma Bedoukian

Children's Hospital of Philadelphia

ORCID: 0000-0003-3064-2488

Also affiliated with Children's Hospital of Eastern Ontario

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 9 papers. Top paper: “Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome”.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124
N/A
0.644DataRank · unranked
72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.010
N/A
0.430DataRank · unranked
9 citations

Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura A. Devlin, Jill R. Murrell +35 more

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

Brain(2023)10.1093/brain/awad039
N/A
0.385DataRank · unranked
12 citations

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

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

Investigative Ophthalmology & Visual Science(2024)10.1167/iovs.65.14.30
N/A
0.292DataRank · unranked
6 citations

Alejandro J. Román, Katherine E. Uyhazi, Yu Jiang, Emma Bedoukian, Alexander Sumaroka +19 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5
N/A
0.104DataRank · unranked
1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

British Journal of Ophthalmology(2024)10.1136/bjo-2023-323747
N/A
0DataRank · unranked
7 citations

Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Elise Héon +52 more

NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61550
N/A
0DataRank · unranked
8 citations

Petra Werner, Brande Latney, Bryon L. Krock, Avni Santani, Emma Bedoukian +4 more

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

Molecular Syndromology(2023)10.1159/000530197
N/A
0DataRank · unranked
5 citations

Rebecca Ganetzky, Gerald Wertheim, Cara Skraban, Emma Bedoukian, Alisha Wilkens +7 more

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

Brain(2020)10.1093/brain/awaa176
N/A
0DataRank · unranked
49 citations

Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian +15 more