Saadet Mercimek‐Andrews

Also affiliated with University of Alberta, Women and Children’s Health Research Institute, Alberta Health

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 10 papers. Top paper: “Functional divergence of the two Elongator subcomplexes during neurodevelopment”.

Functional divergence of the two Elongator subcomplexes during neurodevelopment

EMBO Molecular Medicine(2022)10.15252/emmm.202115608

N/A

0.688DataRank · unranked

20 citations

Marija Kojic, Megan R Stegeman, Tülay Öncü Öner, Anna Kościelniak, Alun Jones +24 more

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 more

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

Therapeutic Advances in Rare Disease(2023)10.1177/26330040221150269

N/A

0DataRank · unranked

11 citations

Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz +5 more

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108362

N/A

0DataRank · unranked

10 citations

Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez +9 more

Coagulation abnormalities and vascular complications are common in PGM1-CDG

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108530

N/A

0DataRank · unranked

5 citations

Sofie Bleukx, Nicole Engelhardt, Erik A. Eklund, Saadet Mercimek‐Andrews, Andrew C. Edmondson +2 more

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports(2024)10.1002/jmd2.12442

N/A

0DataRank · unranked

1 citations

R. Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah Goo +11 more

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272

N/A

0DataRank · unranked

8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

American Journal on Intellectual and Developmental Disabilities(2020)10.1352/1944-7558-125.6.475

N/A

0DataRank · unranked

64 citations

Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett +25 more

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03900-3

N/A

0DataRank · unranked

1 citations

Emily Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham +25 more