Carol Van Ryzin

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 11 papers. Top paper: “Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia”.

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12636

N/A

1.1DataRank · unranked

42 citations

Abigael Gebremariam, Samantha McCoy, Alexandra Pass, Jack Gagné, Camryn Hall +11 more

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

Genetics in Medicine(2021)10.1038/s41436-021-01173-2

N/A

0.846DataRank · unranked

23 citations

Irini Manoli, Paul Juneau, Jennifer L. Sloan, Susan Ferry, Jennifer Myles +15 more

1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

Genetics in Medicine(2021)10.1038/s41436-021-01143-8

N/A

0.688DataRank · unranked

16 citations

Alexandra Pass, Elizabeth A. Harrington, Jennifer L. Sloan, Jack Gagné, Samantha McCoy +16 more

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109005

N/A

0.165DataRank · unranked

2 citations

Huw Davies, Robert P. Mohney, Ace J. Hatch, Owen Birch, Susan Ferry +9 more

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology

Molecular Psychiatry(2024)10.1038/s41380-023-02385-5

N/A

0DataRank · unranked

12 citations

Cristan Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli +7 more

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

International Journal of Environmental Research and Public Health(2024)10.3390/ijerph21050615

N/A

0DataRank · unranked

2 citations

Konstantinia Almpani, Rashmi Mishra, Carol W. Bassim, Carol Van Ryzin, Bryn D. Webb +6 more

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

Human Gene Therapy(2020)10.1089/hum.2020.259

N/A

0DataRank · unranked

33 citations

Elizabeth A. Ottinger, Deanna Portero, Richa Madan Lomash, Asaf Alimardanov, Pramod Terse +35 more

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103437

N/A

0DataRank · unranked

1 citations

Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin +37 more

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Human Genetics(2021)10.1007/s00439-021-02379-9

N/A

0DataRank · unranked

28 citations

Brenda J. Barry, Caroline D. Robson, Flavia M. Facio, Carol Van Ryzin, Wai‐Man Chan +31 more

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62627

N/A

0DataRank · unranked

8 citations

David Watkins, David J. Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu +15 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0DataRank · unranked

37 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more