Tobias B. Haack

Also affiliated with University Children's Hospital Tübingen, STZ eyetrial, Technical University of Munich, University of Tübingen

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 3%percentile

1.5Author DataRank

Indexed papers

4in 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 4 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.

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 41 papers — median percentile 54. Top paper: “RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses”.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

The Lancet Neurology(2024)10.1016/s1474-4422(24)00121-2

N/A

0.706DataRank · unranked

110 citations

Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu +31 more

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients

Annals of Neurology(2020)10.1002/ana.25751

N/A

0.654DataRank · unranked

77 citations

Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich +37 more

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

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.015

N/A

0.604DataRank · unranked

55 citations

Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger +41 more

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

European Journal of Human Genetics(2023)10.1038/s41431-023-01445-2

Top 34%

0.579DataRank

Top 34%20 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +50 more

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature Communications(2022)10.1038/s41467-022-30015-1

N/A

0.571DataRank · unranked

44 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin +53 more

Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2119078119

N/A

0.568DataRank · unranked

43 citations

Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E. Pohodich, Joanna Lopez +19 more

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Movement Disorders(2022)10.1002/mds.28959

N/A

0.494DataRank · unranked

26 citations

Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau +33 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

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0.385DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 more

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Nature Genetics(2026)10.1038/s41588-025-02451-4

N/A

0.370DataRank · unranked

8 citations

Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +212 more

Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes

Brain(2022)10.1093/brain/awac240

N/A

0.330DataRank · unranked

8 citations

Benjamin Bender, Tobias B. Haack, Stephan Züchner, A. Nazlı Başak, Matthis Synofzik +1 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0.312DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 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

0.292DataRank · unranked

6 citations

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

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0.269DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 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

A pathogenic variant in RAB32 causes autosomal dominant Parkinson’s disease and activates LRRK2 kinase

medRxiv(2024)10.1101/2024.01.17.24300927

N/A

0.208DataRank · unranked

3 citations

Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu +32 more

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63578

N/A

0.165DataRank · unranked

2 citations

Lisa Weingarten, Nicolas J. Abreu, Houda Zghal Elloumi, Tobias B. Haack, Clara Hildebrant +7 more

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.017

N/A

0DataRank · unranked

26 citations

Ulrich A. Schatz, Pernille Mathiesen Tørring, Mary-Alice Abbott, Matthias Baumann, Charlotte Brasch‐Andersen +11 more

GGC expansion in ZFHX3 causes SCA4 and impairs autophagy

medRxiv(2023)10.1101/2023.10.26.23297560

N/A

0DataRank · unranked

3 citations

Caspar Groß, Elena Buena Atienza, Sharan Paul, Mandi Gandelman, Tobias B. Haack +25 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 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

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12232

N/A

0DataRank · unranked

62 citations

Abdallah F. Elias, Alice Küster, Lucia Laugwitz, Austin Larson, Aaron P. Landry +16 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 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

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

medRxiv(2024)10.1101/2024.04.13.24305761

N/A

0DataRank · unranked

2 citations

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Kristina Lanko, Rachel Schot +12 more

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101513

N/A

0DataRank · unranked

1 citations

Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. van Rossum +39 more

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

medRxiv(2025)10.1101/2025.01.06.24317169

N/A

0DataRank · unranked

15 citations

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +95 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 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

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

medRxiv(2021)10.1101/2021.04.08.21254942

N/A

0DataRank · unranked

2 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin J. O’Donovan, Maura Coughlin +53 more

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

medRxiv(2025)10.64898/2025.12.11.25341975

N/A

0DataRank · unranked

0 citations

Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Virginie Vignard +43 more

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

Movement Disorders(2022)10.1002/mds.29071

N/A

0DataRank · unranked

22 citations

Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop +25 more

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Movement Disorders(2022)10.1002/mds.29147

N/A

0DataRank · unranked

11 citations

Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen +32 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology

Research Square(2022)10.21203/rs.3.rs-2401638/v1

Top 100%

0DataRank

Top 100%0 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +46 more

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.024

N/A

0DataRank · unranked

17 citations

Shabab B. Hannan, Sarah Dyack, Sara MacKay, Ulrich A. Schatz, Martin Fleger +41 more

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Brain(2023)10.1093/brain/awad434

N/A

0DataRank · unranked

8 citations

Xinfu Jiao, J. Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck‐Wödl +35 more

Tobias B. Haack

Indexed papers

Top data-sharing exemplar

Papers