Ute Hehr

8.0k citations

92 papers · 2.8k · h-index 28

Impact in

Genetics top 2%
- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
Cellular and Molecular Neuroscience top 5%
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases

Papers in

Molecular Biology 47
- Muscle Physiology and Disorders 16
- Hedgehog Signaling Pathway Studies 9
- Mitochondrial Function and Pathology 7
Genetics 32
- Cleft Lip and Palate Research 9
- Craniofacial Disorders and Treatments 8
- Genomic variations and chromosomal abnormalities 7

Co-authors: Maximilian Muenke (5 shared papers)Jürgen Winkler (16 shared papers)Erich Roessler (4 shared papers)Gabriele Gillessen‐Kaesbach (3 shared papers)Luisa Nanni (1 shared paper)Antônio Richieri‐Costa (1 shared paper)Deeann Wallis (1 shared paper)Johanna M. Rommens (1 shared paper)
Journals: Neuropediatrics (9 papers)Human Mutation (4 papers)Neurology (3 papers)Orphanet Journal of Rare Diseases (3 papers)Neurogenetics (3 papers)
Partner nations: Germany United States Türkiye

In The Last Decade

Ute Hehr

86 papers receiving 2.7k citations

Peers

Countries citing papers authored by Ute Hehr

Since Specialization

Citations

This map shows the geographic impact of Ute Hehr's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Ute Hehr with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Ute Hehr more than expected).

Fields of papers citing papers by Ute Hehr

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ute Hehr. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Ute Hehr. The network helps show where Ute Hehr may publish in the future.

Co-authors

The 25 scholars most cited alongside Ute Hehr, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Ute Hehr Line = papers co-authored together Ute Hehr links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 92 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly Nature Genetics ·Deeann Wallis, Erich Roessler, Ute Hehr, Luisa Nanni, Tim Wiltshire, Antônio Richieri‐Costa, Gabriele Gillessen‐Kaesbach, Elaine H. Zackai, Johanna M. Rommens, Maximilian Muenke	1999	346
2	Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome Nature Genetics ·Johannes G. Dauwerse, Jill Dixon, Saskia Seland, Claudia Ruivenkamp, Arie van Haeringen, Lies H. Hoefsloot, Dorien J.M. Peters, Agnes Clement-de Boers, Cornelia Daumer‐Haas, Robert Maiwald, Christiane Zweier, Bronwyn Kerr, Ana María Cobo, Joaquín Fernández Toral, A. Jeannette M. Hoogeboom, Dietmar Lohmann, Ute Hehr, Michael J. Dixon, Martijn H. Breuning, Dagmar Wieczorek	2010	264
3	WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes The American Journal of Human Genetics ·Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia M. Haase, Kerstin Spree, Ute Hehr, Mandy Hoffmann, Susanne Ledig, Saadettin Sel, Peter Wieacker, Albrecht Röpke	2009	172
4	An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene Neuromuscular Disorders ·Burcu Balcı, Gökhan Uyanık, Pervin Dinçer, Claudia Groß, Tobias Willer, Beril Talim, Göknur Haliloğlu, Gülsev Kale, Ute Hehr, Jürgen Winkler, Haluk Topaloğlu	2005	136
5	Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Brain ·Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz	2013	110
6	Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons Human Molecular Genetics ·Steven Havlicek, Zacharias Kohl, Hemant Kumar Mishra, Iryna Prots, Erik Eberhardt, N. Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C. Marchetto, Stefan Aigner, Heinrich Sticht, Teja W. Groemer, Ute Hehr, Angelika Lampert, Ursula Schlötzer‐Schrehardt, Jürgen Winkler, Fred H. Gage, Beate Winner	2013	99
7	Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones Molecular Genetics and Metabolism ·Ute Hehr, Maximilian Muenke	1999	78
8	The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis Human Mutation ·Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke	2009	72
9	Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum Molecular Syndromology ·Arif B. Ekici, D. Hilfinger, M. Jatzwauk, Christian T. Thiel, Dirk Wenzel, Ivo C. Lorenz, Eugen Boltshauser, TO Goecke, Gundula Staatz, Déborah Morris-Rosendahl, Heinrich Sticht, Ute Hehr, André Reis, Anita Rauch	2010	71
10	In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC) NeuroMolecular Medicine ·Caroline Brandl, Stephanie Zimmermann, Vladimir M. Milenkovic, Sibylle M. G. Rosendahl, Felix Graßmann, Andrea Milenkovic, Ute Hehr, Marianne Federlin, Christian H. Wetzel, Horst Helbig, Bernhard H. F. Weber	2014	67
11	ARX mutations in X-linked lissencephaly with abnormal genitalia Neurology ·G. Uyanık, Ludwig Aigner, Peter Martin, Carolina Grob, David Neumann, H. Marschner-Schäfer, Ute Hehr, Jürgen Winkler	2003	66
12	Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11) Archives of Neurology ·Beate Winner, Goekhan Uyanik, Claudia Groß, Max Lange, Wilhelm Schulte‐Mattler, Gerhard Schuierer, Joerg Marienhagen, Ute Hehr, (unknown)	2004	61
13	Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy Neurogenetics ·Tobias Geis, Klaus Marquard, Tanja Rödl, Christof Reihle, S. Schirmer, Thekla von Kalle, Antje Bornemann, Ute Hehr, Markus Blankenburg	2013	59
14	Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia Journal of Neurology Neurosurgery & Psychiatry ·Rebecca Schüle, Nina Schlipf, Matthis Synofzik, Stephan Klebe, Sven Klimpe, Ute Hehr, Beate Winner, Tobias Lindig, A Dotzer, (unknown), Jürgen Winkler, Lüdger Schöls, Peter Bauer	2009	56
15	Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction The American Journal of Human Genetics ·K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel, Joaquín Navajas Acedo, Luke L. Linscott, Kristen L. Sund, Patricia L. Bender, Rainer König, Charles Marques Lourenço, Ute Hehr, Robert J. Hopkin, Dietmar Lohmann, Paul A. Trainor, Dagmar Wieczorek, Howard M. Saal	2015	56
16	Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome Neurology ·G. Uyanık, Nursel Elçioğlu, Johannes Penzien, (unknown), Yasin Yılmaz, Akgün Ölmez, Ercan Demir, Dennis Wahl, K. Scheglmann, Beate Winner, Ulrich Bogdahn, Haluk Topaloğlu, Ute Hehr, Jürgen Winkler	2006	55
17	The full spectrum of holoprosencephaly-associated mutations within theZIC2gene in humans predicts loss-of-function as the predominant disease mechanism Human Mutation ·Erich Roessler, Felicitas Lacbawan, Christ��le Dubourg, Aimée Paulussen, J. Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia V. Ouspenskaia, Sherri J. Bale, Sylvie Odent, V��ronique David, Maximilian Muenke	2009	54
18	Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI Journal of neurosurgery ·Philipp Dammann, Karsten H. Wrede, Yuan Zhu, Toshinori Matsushige, Stefan Maderwald, Lale Umutlu, Harald H. Quick, Ute Hehr, Matthias Rath, Mark E. Ladd, Ute Felbor, Ulrich Sure	2016	48
19	Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease Neurogenetics ·Ute Hehr, Goekhan Uyanik, Claudia Groß, Maggie C. Walter, Axel Bohring, Monika Cohen, Barbara Oehl‐Jaschkowitz, Lynne M. Bird, G. Shamdeen, Ulrich Bogdahn, Gerhard Schuierer, Haluk Topaloğlu, Ludwig Aigner, Hanns Lochmüller, Jürgen Winkler	2007	46
20	The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Orphanet Journal of Rare Diseases ·Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp	2019	44

About Ute Hehr

Ute Hehr is a scholar working on Molecular Biology, Genetics, Cellular and Molecular Neuroscience, Pediatrics, Perinatology and Child Health and Genetics, having authored 92 papers that have together received 2.8k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (16 papers), Fetal and Pediatric Neurological Disorders (10 papers), Cleft Lip and Palate Research (9 papers), Hedgehog Signaling Pathway Studies (9 papers), Hereditary Neurological Disorders (8 papers), Craniofacial Disorders and Treatments (8 papers), Genomic variations and chromosomal abnormalities (7 papers) and Mitochondrial Function and Pathology (7 papers). The work is most often cited by research in Genetics (940 citations), Cellular and Molecular Neuroscience (558 citations), Genetics (259 citations), Developmental Biology (56 citations) and Molecular Biology (1.7k citations). Ute Hehr has collaborated with scholars based in Germany, United States and Türkiye. Frequent co-authors include Maximilian Muenke, Jürgen Winkler, Erich Roessler, Gabriele Gillessen‐Kaesbach, Luisa Nanni, Antônio Richieri‐Costa, Deeann Wallis, Johanna M. Rommens, Elaine H. Zackai and Tim Wiltshire. Their work appears in journals such as Neuropediatrics, Human Mutation, Neurology, Orphanet Journal of Rare Diseases and Neurogenetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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Ute Hehr

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About Ute Hehr

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