🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Theresa Brunet

TUM Klinikum

ORCID: 0000-0002-5183-780X

Also affiliated with Institute of Human Genetics, Technical University of Munich

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 4%percentile
0.875Author DataRank

Indexed papers

2in 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 2 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 →

Top data-sharing exemplar

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

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

medRxiv(2023)10.1101/2023.06.06.23290887
Top 32%
0.614DataRank
Top 32%25 citations

Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro +95 more

Papers

Driven by 19 papers — median percentile 54. Top paper: “GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases”.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

medRxiv(2023)10.1101/2023.06.06.23290887
Top 32%
0.614DataRank
Top 32%25 citations

Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro +95 more

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Research Square(2024)10.21203/rs.3.rs-4438861/v1
Top 59%
0.261DataRank
Top 59%4 citations

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Elaine Marchi, Maria del Pilar Caro Martin +95 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066
N/A
0DataRank · unranked
33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342
N/A
0DataRank · unranked
3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects

Brain(2022)10.1093/brain/awac364
N/A
0DataRank · unranked
39 citations

Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani +23 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005
N/A
0DataRank · unranked
23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006
N/A
0DataRank · unranked
13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189
N/A
0DataRank · unranked
36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034
N/A
0DataRank · unranked
8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature Genetics(2024)10.1038/s41588-024-01836-1
N/A
0DataRank · unranked
49 citations

Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh +95 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077
N/A
0DataRank · unranked
10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x
N/A
0DataRank · unranked
9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5
N/A
0DataRank · unranked
10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.012
N/A
0DataRank · unranked
6 citations

Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler +91 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369
N/A
0DataRank · unranked
4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

Brain(2025)10.1093/brain/awaf273
N/A
0DataRank · unranked
1 citations

Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Chung Ting Tsoi +36 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109
N/A
0DataRank · unranked
0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

UNC Libraries(2025)10.17615/dy6f-xt03
N/A
0DataRank · unranked
0 citations

Benjamin Cogné, Rachel Rabin, E Kessler, Céline Chappé, Melanie Brügger +92 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
0DataRank · unranked
42 citations

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