Jamie L. Fraser

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 13 papers. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Hodgkin lymphoma in an individual with TREX1‐mediated Aicardi Goutières syndrome

Pediatric Blood & Cancer(2021)10.1002/pbc.29322

N/A

0DataRank · unranked

3 citations

Jamie L. Fraser, Miriam Bloom, Laura Tochen, Jullie Rhee, Megan Kwan +6 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

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108453

N/A

0DataRank · unranked

25 citations

Anjana Sevagamoorthy, Omar Sherbini, Jamie L. Fraser, Joshua L. Bonkowsky, Francesco Gavazzi +18 more

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Cytotherapy(2024)10.1016/j.jcyt.2024.03.487

N/A

0DataRank · unranked

25 citations

Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas, John Bernat +27 more

Advance Care Planning for Children With Rare Diseases: A Pilot RCT

PEDIATRICS(2024)10.1542/peds.2023-064557

N/A

0DataRank · unranked

9 citations

Jamie L. Fraser, Jessica Thompkins, Heidi Clark, Nicola Brodie, Kathryn Detwiler +6 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

N/A

0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

Systemic complications of Aicardi Goutières syndrome using real-world data

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108578

N/A

0DataRank · unranked

8 citations

Amanda Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi, David Isaacs +14 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Mondo: integrating disease terminology across communities

Genetics(2025)10.1093/genetics/iyaf215

N/A

0DataRank · unranked

16 citations

Sabrina Toro, Nicolas A Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde +95 more

New Phenotypic Features in FGFR1‐Related Osteoglophonic Dysplasia

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64092

N/A

0DataRank · unranked

2 citations

Holly E. Babcock, Corey S. Gill, Jamie L. Fraser, Debra S. Regier, Rajdeep Kaur +3 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society(2025)10.1002/cns3.70025

N/A

0DataRank · unranked

0 citations

Sarah Woidill, Russell D’Aiello, Amina Khan, Jacob McCann, Mark Ramos +27 more