Annette Bley

Also affiliated with University Medical Center Hamburg-Eppendorf

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 9 papers. Top paper: “Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management”.

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

European Journal of Paediatric Neurology(2024)10.1016/j.ejpn.2024.03.003

N/A

0.510DataRank · unranked

29 citations

Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard +23 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

0.489DataRank · unranked

25 citations

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

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108436

N/A

0.345DataRank · unranked

9 citations

Annette Bley, Heather A. Brown, Charlotte Chanson, Heather J. Church, Michael H. Gelb +10 more

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 more

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human Mutation(2020)10.1002/humu.23975

N/A

0DataRank · unranked

113 citations

Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck +58 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

EBioMedicine(2023)10.1016/j.ebiom.2023.104781

N/A

0DataRank · unranked

33 citations

Paulus Rommer, Andreas Gleiß, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer‐Söllner +21 more

Urine N -Acetylaspartate Distinguishes Phenotypes in Canavan Disease

Human Gene Therapy(2024)10.1089/hum.2024.168

N/A

0DataRank · unranked

3 citations

Florian Eichler, Annette Bley, Jan Bredow, Alexander Fay, Elise L. Townsend +6 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004

N/A

0DataRank · unranked

1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 more