Bonnie Sullivan

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

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: “Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation”.

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12238

N/A

0DataRank · unranked

34 citations

Isaac D Liu, Jeffrey B. Hodgin, Peter I. Benke, Jeremy Selva, Federico Torta +22 more

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

American Journal of Neuroradiology(2020)10.3174/ajnr.a6746

N/A

0DataRank · unranked

25 citations

K. Nicole Weaver, Khalid Alhasan, Evren Gümüş, Bonnie Sullivan, Martin Zenker +3 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature Communications(2021)10.1038/s41467-021-21053-2

N/A

0DataRank · unranked

65 citations

Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino +19 more

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Journal of Medical Genetics(2022)10.1136/jmg-2022-108738

N/A

0DataRank · unranked

7 citations

Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska +18 more

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856

N/A

0DataRank · unranked

2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more