Hanns Lochmüller

Also affiliated with Children's Hospital of Eastern Ontario, Ottawa Hospital, University Medical Center Freiburg, MIND Research Institute, Centro Nacional de Análisis Genómico

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 1%percentile

12.9Author DataRank

Indexed papers

5in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 5 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Journal of General Internal Medicine(2014)10.1007/s11606-014-2908-8

Top 1%

11.5DataRank

Top 1%199 citations

Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Manaswi Gupta +18 more

Papers

Driven by 26 papers — median percentile 83. Top paper: “RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research”.

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Journal of General Internal Medicine(2014)10.1007/s11606-014-2908-8

Top 1%

11.5DataRank

Top 1%199 citations

Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Manaswi Gupta +18 more

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology(2022)10.1038/s41587-022-01357-4

N/A

2.4DataRank · unranked

111 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske +62 more

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03059-3

Top 17%

1.2DataRank

Top 17%22 citations

Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Dimitrios Athanasiou +37 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0.568DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0.564DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Brain(2022)10.1093/brain/awac055

N/A

0.553DataRank · unranked

39 citations

Leen Vendredy, Emily L. Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom +12 more

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0.489DataRank · unranked

25 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Neuromuscular Disorders(2022)10.1016/j.nmd.2022.03.003

N/A

0.425DataRank · unranked

16 citations

Demetris Koutalianos, Kristia Georgiou, Andrea C. Kakouri, Anastasis Oulas, Marios Tomazou +10 more

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome

Frontiers in Molecular Neuroscience(2020)10.3389/fnmol.2020.594220

N/A

0.416DataRank · unranked

15 citations

Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O’Connor +7 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0.385DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0.365DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease

Med(2023)10.1016/j.medj.2023.10.003

N/A

0.360DataRank · unranked

10 citations

Michael Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P Adam, Hannah Blau +21 more

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

medRxiv(2023)10.1101/2023.07.13.23292612

Top 60%

0.246DataRank

Top 60%3 citations

Michael Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P Adam, Hannah Blau +21 more

Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice

Human Molecular Genetics(2025)10.1093/hmg/ddaf140

N/A

0.208DataRank · unranked

3 citations

Ricardo Carmona-Martinez, Daniel O’Neil, Kelly Ho, Kaela O’Connor, Yoshiteru Azuma +4 more

A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)

Biomolecules(2024)10.3390/biom14101252

N/A

0DataRank · unranked

7 citations

Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff +2 more

Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Human Molecular Genetics(2024)10.1093/hmg/ddae171

N/A

0DataRank · unranked

1 citations

Jarred Lau, Emily O’Connor, Alicia DiBattista, Brittany Y Wong, Sally Spendiff +5 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03742-z

N/A

0DataRank · unranked

5 citations

Alessandro Colitta, Manuela Lavorato, Peter Van den Bergh, Janbernd Kirschner, Cornelia Kornblum +13 more

Gene-specific response to MuSK agonist antibody in the treatment of Congenital Myasthenic Syndromes

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.29.673058

N/A

0DataRank · unranked

0 citations

Ofosu Adjei-Afriyie, Ricardo Carmona-Martinez, Rohan Ray, Daniel O’Neil, Joshua Zeldin +8 more

Mortality Trends and Causes of Death in Myotonic Dystrophy Type 1 Patients From the UK Clinical Practice Research Datalink

Muscle & Nerve(2024)10.1002/mus.28308

N/A

0DataRank · unranked

9 citations

Ruth M. Pfeiffer, Emily Pearce, Mark H. Greene, Hanns Lochmüller, Shahinaz M. Gadalla +1 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.005

N/A

0DataRank · unranked

17 citations

Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier +42 more

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

European Journal of Human Genetics(2020)10.1038/s41431-019-0563-6

N/A

0DataRank · unranked

41 citations

Pietro Spitali, Irina Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch +19 more

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Journal of Neuromuscular Diseases(2020)10.3233/jnd-200510

N/A

0DataRank · unranked

19 citations

Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Lüdger Schöls, Ece Sönmezler +16 more

Molecular pathophysiology of human MICU1 deficiency

Neuropathology and Applied Neurobiology(2021)10.1111/nan.12694

N/A

0DataRank · unranked

33 citations

Miriam Elbracht, Artur Czech, Martin Häusler, Vietxuan Phan, Ana Töpf +13 more

Hanns Lochmüller

Indexed papers

Top data-sharing exemplar

Papers