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

Alanna Strong

Children's Hospital of Philadelphia

ORCID: 0000-0001-9261-244X

Also affiliated with University of Pennsylvania

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: “Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda”.

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda

Molecular Genetics and Metabolism Reports(2020)10.1016/j.ymgmr.2020.100638

N/A

0DataRank · unranked

3 citations

Kierstin Keller, Jamie Merves, Alanna Strong

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y

N/A

0DataRank · unranked

17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 more

Delayed diagnosis and racial bias in children with genetic conditions

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62626

N/A

0DataRank · unranked

29 citations

Leah Dowsett, Robin D. Clark, Jamie L. Fraser, Aya Abu‐El‐Haija, Alanna Strong +4 more

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

JAMA Network Open(2023)10.1001/jamanetworkopen.2023.12231

N/A

0DataRank · unranked

51 citations

Sophia Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick +17 more

TOPORS as a novel causal gene for Joubert syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63303

N/A

0DataRank · unranked

6 citations

Hui‐Qi Qu, Sinéad Cullina, Morgan L. McManus, Elaine H. Zackai, Joseph Glessner +3 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100226

N/A

0DataRank · unranked

3 citations

Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong +7 more

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107682

N/A

0DataRank · unranked

2 citations

Andrew C. Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard T. Berry +2 more

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

Genetics in Medicine(2024)10.1016/j.gim.2024.101222

N/A

0DataRank · unranked

8 citations

Michael March, Christopher J. Cardinale, Yichuan Liu, Mark R. Battig, Lívia Sertori Finoti +15 more

Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63940

N/A

0DataRank · unranked

3 citations

Emilie S. Zoltick, Hana Zouk, Wei He, Emma Perez, L. Clarke +8 more

Advancing precision care in pregnancy through a treatable fetal findings list

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.011

N/A

0DataRank · unranked

10 citations

Michael Duyzend, Sophia Adelson, Julie Yeo, Mark D. Fleming, Rebecca Ganetzky +12 more

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64050

N/A

0DataRank · unranked

3 citations

Jessica A. Gold, Nina B. Gold, Alanna Strong, Devi Priyanka Maripuri

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64119

N/A

0DataRank · unranked

3 citations

Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland +12 more

The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation

Journal of Crohn s and Colitis(2025)10.1093/ecco-jcc/jjaf030

N/A

0DataRank · unranked

1 citations

Yichuan Liu, Aayush Kevadia, Alanna Strong, Val J. Watts, Håkon Håkonarson +1 more