Peter Huppke

4.1k citations

52 papers · 2.8k indexed · 1 hit paper · h-index 26

Impact in

Genetics top 0.5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
Cognitive Neuroscience top 1%
- Autism Spectrum Disorder Research

Papers in

Genetics 26
- Genetics and Neurodevelopmental Disorders 25
Cognitive Neuroscience 15
- Autism Spectrum Disorder Research 15

Co-authors: Jutta Gärtner Franco Laccone John Christodoulou F. Hanefeld Nadia Bahi‐Buisson Michele Zappella Helen Leonard Daniel G. Glaze
Journals: Neuropediatrics (4 papers)Human Mutation (4 papers)Neurology (3 papers)The American Journal of Human Genetics (2 papers)Journal of Child Neurology (2 papers)
Partner nations: Germany Israel Austria

In The Last Decade

Peter Huppke

51 papers receiving 2.8k citations

Hit Papers

align trajectories log scale

Rett syndrome: Revised diagnostic criteria and nomenclature 2010 · 990 citations

Peers

Countries citing papers authored by Peter Huppke

Since Specialization

Citations

This map shows the geographic impact of Peter Huppke'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 Peter Huppke with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Peter Huppke more than expected).

Fields of papers citing papers by Peter Huppke

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Peter Huppke. 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 Peter Huppke. The network helps show where Peter Huppke may publish in the future.

Co-authors

The 25 scholars most cited alongside Peter Huppke, 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 Peter Huppke Line = papers co-authored together Peter Huppke links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome International Journal of Molecular Sciences ·Keit Men Wong, Eike Wegener, Alireza Baradaran‐Heravi, Brenda Huppke, Jutta Gärtner, Peter Huppke	2023	2
2	A novel remitting leukodystrophy associated with a variant in FBP2 Brain Communications ·Agnieszka Gizak, Samneang Maneechai, Steffi Dreha‐Kulaczewski, Janusz Wiśniewski, Przemysław Duda, Andreas Ohlenbusch, Brenda Huppke, Marco Henneke, Wolfgang Höhne, Janine Altmüller, Holger Thiele, Peter Nürnberg, Dariusz Rakus, Jutta Gärtner, Peter Huppke	2021	2
3	From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1 Mitochondrion ·Matthias Kettwig, Max Schubach, Franz Zimmermann, Lars Klinge, Johannes A. Mayr, Saskia Biskup, Wolfgang Sperl, Jutta Gärtner, Peter Huppke	2015	51
4	Tectonic gene mutations in patients with Joubert syndrome European Journal of Human Genetics ·Peter Huppke, Eike Wegener, Mao-bin XIA, Hanno J. Bolz, Barbara Zoll, Jutta Gärtner, Carsten Bergmann	2014	28
5	Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses Acta Neuropathologica ·Nils Schweingruber, Henrike J. Fischer, Lisa Fischer, Jens van den Brandt, Zulkifly Osman, Verena Labi, Andreas Villunger, T. Ceva, Peter Huppke, Mikael Simons, Jan Tuckermann, Alexander Flügel, Fred Lühder, Holger M. Reichardt	2014	44
6	Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels Journal of Neurodevelopmental Disorders ·Cornelia Brendel, Gilberto Lodi, Merle Hillebrand, Jutta Gärtner, Peter Huppke	2013	5
7	T-cell homeostasis in pediatric multiple sclerosis Neurology ·Bettina Balint, Jürgen Haas, Alexander Schwarz, Sven Jarius, Carolyne Willow, Klette, 高丕英, Friedrich Ebinger, Benedikt Fritzsching, Friedemann Paul, Ulrich Seidel, S Vlaho, Peter Huppke, Jutta Gärtner, Brigitte Wildemann	2013	56
8	Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome JIMD Reports ·Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Éva Morava, Ertan Mayatepek, Jürgen Kohlhase, Michael Karenfort	2013	31
9	Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin The American Journal of Human Genetics ·Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Sara Meade, Callum Wilson, U Gruber‐Sedlmayr, Reinhard Ullmann, Stefan A. Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Bae Kyoungjin, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner	2012	68
10	Rett syndrome: Revised diagnostic criteria and nomenclature Annals of Neurology ·Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, John Christodoulou, Angus Clarke, Nadia Bahi‐Buisson, Helen Leonard, Mark E.S. Bailey, N. Carolyn Schanen, Michele Zappella, Alessandra Renieri, Peter Huppke, Alan K. Percy Hit paper breakdown →	2010	990
11	Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model Journal of Molecular Medicine ·Cornelia Brendel, Valery Belakhov, Hauke Werner, Eike Wegener, Jutta Gärtner, Igor Nudelman, Timor Baasov, Peter Huppke	2010	79
12	Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1) Journal of Neurology Neurosurgery & Psychiatry ·Birgit Zirn, Kathrin Grundmann, Peter Huppke, A. J. Ellis, Hartwig Wolburg, (unknown), Ulrich Müller	2008	55
13	Disturbances of Breathing in Rett Syndrome: Results from Patients and Animal Models Advances in experimental medicine and biology ·Georg M. Stettner, Peter Huppke, Jutta Gärtner, Diethelm W. Richter, Mathias Dutschmann	2007	34
14	Spontaneous central apneas occur in the C57BL/6J mouse strain Respiratory Physiology & Neurobiology ·Georg M. Stettner, Sébastien Zanella, Peter Huppke, Jutta Gärtner, Gérard Hilaire, Mathias Dutschmann	2007	47
15	Treatment of epilepsy in Rett syndrome European Journal of Paediatric Neurology ·Peter Huppke, Muhammad Allan Romeo Machfudiyanto, Knut Brockmann, Georg M. Stettner, Jutta Gärtner	2006	39
16	Very mild cases of Rett syndrome with skewed X inactivation: Figure 1 Journal of Medical Genetics ·Peter Huppke, Esther M. Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone, Jutta Gärtner	2006	44
17	Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome Neuropediatrics ·Peter Huppke, Riccardo Calzavara, F. Hanefeld, Sheril A George, Franco Laccone	2002	72
18	Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions Human Mutation ·Franco Laccone, Peter Huppke, F. Hanefeld, Moritz Meins	2001	66
19	MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin The American Journal of Human Genetics ·Ralf Ulrich Trappe, Franco Laccone, Joana Cobilanschi, Moritz Meins, Peter Huppke, F. Hanefeld, Wolfgang Engel	2001	187
20	Two brothers with Hennekam syndrome and cerebral abnormalities Clinical Dysmorphology ·Peter Huppke, Gil Ott, Bernhard Sattler, F. Hanefeld	2000	11

About Peter Huppke

Peter Huppke is a scholar working on Genetics, Cognitive Neuroscience, Clinical Biochemistry, Neurology and Molecular Biology, having authored 52 papers that have together received 2.8k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (25 papers), Autism Spectrum Disorder Research (15 papers), Epigenetics and DNA Methylation (8 papers), RNA modifications and cancer (6 papers), Metabolism and Genetic Disorders (5 papers), Mitochondrial Function and Pathology (3 papers), Reproductive System and Pregnancy (3 papers) and RNA regulation and disease (3 papers). The work is most often cited by research in Genetics (2.0k citations), Cognitive Neuroscience (1.3k citations), Endocrine and Autonomic Systems (170 citations), Clinical Psychology (443 citations) and Molecular Biology (1.2k citations). Peter Huppke has collaborated with scholars based in Germany, Israel and Austria. Frequent co-authors include Jutta Gärtner, Franco Laccone, John Christodoulou, F. Hanefeld, Nadia Bahi‐Buisson, Michele Zappella, Helen Leonard, Daniel G. Glaze, Mark E.S. Bailey and N. Carolyn Schanen. Their work appears in journals such as Neuropediatrics, Human Mutation, Neurology, The American Journal of Human Genetics and Journal of Child Neurology.

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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