Ana Töpf

6.0k citations

85 papers · 1.1k indexed · h-index 19

Molecular Biology
Genetics top 10%
Cardiology and Cardiovascular Medicine top 10%
Epidemiology
Cell Biology top 10%

Co-authors: Hanns Lochmüller Volker Straub Bernard Keavney A. Rus Hoelzel Teresinha Evangelista John O’Sullivan Elise Glen Judith A. Goodship
Topics: Muscle Physiology and Disorders (24 papers)Neurogenetic and Muscular Disorders Research (13 papers)Cardiomyopathy and Myosin Studies (12 papers)
Cited by: Neurology Cell Biology Molecular Biology
Journals: Proceedings of the National Academy of Sciences Circulation Nature Communications
Partner nations: United Kingdom Germany United States

In The Last Decade

Ana Töpf

80 papers receiving 1.1k citations

Peers

Countries citing papers authored by Ana Töpf

Since Specialization

Citations

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

Fields of papers citing papers by Ana Töpf

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Ana Töpf

This figure shows the co-authorship network connecting the top 25 collaborators of Ana Töpf. A scholar is included among the top collaborators of Ana Töpf based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Ana Töpf. Ana Töpf is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort 2025 ·European Journal of Human Genetics ·(unknown),Mahmoud R. Fassad,(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),Barend Christiaan Vorster,Ana Töpf,Michael G. Hanna,Robert W. Taylor,Robert McFarland,(unknown),Francois H. van der Westhuizen,Izelle Smuts	0
2	Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy 2025 ·Neuromuscular Disorders ·Juliane S. Müller,(unknown),Irina Zaharieva,(unknown),Vicente A. Yépez,Anna Esteve‐Codina,D. Chambers,A M Dawson,(unknown),Brian Herron,Estelle Healy,Sandya Tirupathi,Ana Töpf,Stephanie DiTroia,Rahul Phadke,Francesco Muntoni,(unknown)	0
3	A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family 2024 ·Neurology Genetics ·Kristl G. Claeys,Marco Savarese,Per Harald Jonson,(unknown),Ana Töpf,Anna Vihola,Volker Straub,Bjarne Udd	0
4	Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement 2024 ·Journal of Medical Genetics ·Mridul Johari,Ana Töpf,(unknown),Jennifer Duff,(unknown),Pilar Martí,Thomas Robertson,Juan J. Vílchez,Anita Cairns,Elizabeth Harris,Chiara Marini‐Bettolo,Khalid Hundallah,Amal Alhashem,Mohammed Al‐Owain,(unknown),Gianina Ravenscroft,Volker Straub	0
5	Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes 2024 ·Nature Communications ·(unknown),Maria Rigau,Mattia Bosio,Emily O’Connor,Sally Spendiff,Yoshiteru Azuma,Ana Töpf,Rachel Thompson,Peter A.C. ’t Hoen,Teodora Chamova,Ivailo Tournev,Velina Guergueltcheva,Steven Laurie,Sergi Beltrán,Salvador Capella-Gutiérrez,Davide Cirillo,Hanns Lochmüller,Alfonso Valencia	12
6	Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant 2024 ·Neurology Genetics ·(unknown),Kiran Polavarapu,Veeramani Preethish‐Kumar,Seena Vengalil,Saraswati Nashi,Ana Töpf,(unknown),(unknown),Deepak Menon,(unknown),Gautham Arunachal,Bevinahalli N. Nandeesh,Hanns Lochmüller,Atchayaram Nalini	5
7	HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy 2024 ·Journal of Neuromuscular Diseases ·Andreas Roos,Martin Häusler,Laxmikanth Kollipara,Ana Töpf,Corinna Preuße,Rolf Stucka,Kay Nolte,Tim M. Strom,Riccardo Berutti,(unknown),Randi Koll,Hanns Lochmüller,(unknown),René P. Zahedi,Joachim Weis,Jan Senderek	2
8	Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects 2024 ·Neuromuscular Disorders ·Kiran Polavarapu,(unknown),Rachel Thompson,Sally Spendiff,Bevinahalli N. Nandeesh,Seena Vengalil,(unknown),(unknown),Gautham Arunachal,(unknown),(unknown),(unknown),Leslie Matalonga,Ana Töpf,Steven Laurie,(unknown),Saraswati Nashi,(unknown),Atchayaram Nalini,Hanns Lochmüller	1
9	Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis 2023 ·Neuromuscular Disorders ·(unknown),Ana Töpf,Kristl G. Claeys,(unknown),(unknown),Shahriar Nafissi,Volker Straub	4
10	A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function 2023 ·Molecular Neurobiology ·Andreas Hentschel,Nancy Meyer,Nicolai Kohlschmidt,Claudia Groß,Albert Sickmann,Ulrike Schara‐Schmidt,(unknown),Ana Töpf,J Christiansen,Rita Horváth,Matthias Vorgerd,Rachel Thompson,Kiran Polavarapu,Hanns Lochmüller,Corinna Preuße,(unknown),Anne Schänzer,Anika Grüneboom,Andrea Gangfuß,Andreas Roos	5
11	STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39 2022 ·Cell Calcium ·Beatrice Riva,Emanuela Pessolano,(unknown),(unknown),(unknown),Ana Töpf,M. Teresa Serafini,Dan Cox,Elizabeth Harris,Matteo Garibaldi,Rita Barresi,Tracey Pirali,Armando A. Genazzani	10
12	A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A 2021 ·Neuromuscular Disorders ·Sabine Specht,Jennifer Duff,Richard Charlton,Tuomo Polvikoski,Rita Barresi,Ana Töpf,Volker Straub	1
13	Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) 2020 ·European Journal of Neurology ·Farzad Fatehi,Ali Asghar Okhovat,Yalda Nilipour,Magdalena Mroczek,Volker Straub,Ana Töpf,(unknown),Stojan Perić,Vidosava Rakočević Stojanović,Hossein Najmabadi,Shahriar Nafissi	7
14	SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain 2019 ·Journal of Medical Genetics ·Richard J.L.F. Lemmers,Nienke van der Stoep,Patrick J. van der Vliet,Steven A. Moore,David San León,Katherine Johnson,Ana Töpf,Volker Straub,Teresinha Evangelista,Tahseen Mozaffar,Virginia Kimonis,Natalie D. Shaw,Rita Selvatici,Alessandra Ferlini,Nicol C. Voermans,Baziel G.M. van Engelen,Sabrina Sacconi,Rabi Tawil,Meindert H. Lamers,Silvère M. van der Maarel	23
15	Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein 2019 ·Scientific Reports ·Miroslav P. Milev,Daniela Stanga,Anne Schänzer,A. Nascimento,Djenann Saint‐Dic,C. Ortez,Daniel Natera‐de Benito,(unknown),Jaume Colomer,(unknown),Cristina Jou,P. Gallano,Lidia González‐Quereda,Ana Töpf,Katherine Johnson,Volker Straub,Andreas Hahn,Michael Sacher,C. Jimenez‐Mallebrera	9
16	A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement 2018 ·Neuromuscular Disorders ·Lidia González‐Quereda,Eduard Gallardo,Ana Töpf,Alicia Alonso‐Jiménez,Volker Straub,Maria José Rodríguez,Cinta Lleixà,Isabel Illa,P. Gallano,Jordi Díaz‐Manera	15
17	Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy 2017 ·Orphanet Journal of Rare Diseases ·Elizabeth Harris,Ana Töpf,Rita Barresi,Judith A. Hudson,(unknown),James O. Tellez,Debbie Hicks,(unknown),Marta Bértoli,Teresinha Evangelista,(unknown),Ólafur Þ. Magnússon,Monkol Lek,Daniel G. MacArthur,Kate Bushby,Hanns Lochmüller,Volker Straub	36
18	Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot 2013 ·BMC Genetics ·Julián Palomino Doza,Ana Töpf,Jamie Bentham,Shoumo Bhattacharya,Catherine Cosgrove,J. David Brook,Javier T Granados-Riveron,Frances Bu’Lock,John O’Sullivan,Graham Stuart,Jonathan Parsons,Caroline L. Relton,Judith Goodship,Deborah J. Henderson,Bernard Keavney	11
19	Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation 2012 ·Human Mutation ·(unknown),Elise Glen,Ana Töpf,Darroch Hall,John O’Sullivan,Linda Sneddon,Christopher Wren,Peter Avery,Richard J. Lewis,Peter ten Dijke,Helen M. Arthur,Judith A. Goodship,Bernard Keavney	87
20	Abstract 17706: A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot 2011 ·Circulation ·Bernard Keavney,Chrysovalanto Mamasoula,Darroch Hall,Ana Töpf,Helen Griffin,Thahira Rahman,Heather J. Cordell,Judith Goodship,(unknown)	1

About Ana Töpf

Ana Töpf is a scholar working on Genetics, Cell Biology and Genetics, having authored 85 papers that have together received 1.1k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (24 papers), Neurogenetic and Muscular Disorders Research (13 papers) and Cardiomyopathy and Myosin Studies (12 papers). The work is most often cited by research in Neurology (159 citations), Cell Biology (167 citations) and Molecular Biology (678 citations). Ana Töpf has collaborated with scholars based in United Kingdom, Germany and United States. Frequent co-authors include Hanns Lochmüller, Volker Straub, Bernard Keavney, A. Rus Hoelzel, Teresinha Evangelista, John O’Sullivan, Elise Glen, Judith A. Goodship, Darroch Hall and Elizabeth Harris. Their work appears in journals such as Proceedings of the National Academy of Sciences, Circulation and Nature Communications.

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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