Gianina Ravenscroft

5.7k citations

94 papers · 1.5k indexed · h-index 25

Genetics top 2%
- Neurogenetic and Muscular Disorders Research 28
- Genomics and Rare Diseases 13
- Genetics and Neurodevelopmental Disorders 9
Cardiology and Cardiovascular Medicine top 5%
- Cardiomyopathy and Myosin Studies 42
Cellular and Molecular Neuroscience top 5%
- Genetic Neurodegenerative Diseases 18
Molecular Biology top 10%
- Muscle Physiology and Disorders 43
- RNA modifications and cancer 11
Cell Biology top 5%
- Cellular transport and secretion 10

Co-authors: Nigel G. Laing Kristen L. Nowak Mark R. Davis Sarah J. Beecroft Elyshia McNamara Phillipa J. Lamont Carsten G. Bönnemann Steven B. Marston
Cited by: Genetics Cardiology and Cardiovascular Medicine Cellular and Molecular Neuroscience
Journals: Journal of Clinical Investigation (1 paper)PLoS ONE (2 papers)Brain (7 papers)
Partner nations: Australia United Kingdom United States

In The Last Decade

Gianina Ravenscroft

85 papers receiving 1.5k citations

Peers

Countries citing papers authored by Gianina Ravenscroft

Since Specialization

Citations

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

Fields of papers citing papers by Gianina Ravenscroft

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca ²⁺ ‐ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy Neuropathology and Applied Neurobiology ·Laura Llansó,Gianina Ravenscroft,Cristina Aceituno,Antonio Gutiérrez,J. Parmar,P. Gallano,Marta Caballero‐Ávila,Álvaro Carbayo,Ana Vesperinas,Roger Collet,Rosa Blanco,Nigel G. Laing,Leif Hove‐Madsen,Eduard Gallardo,Montse Olivé	2025	0
2	The evolving genetic landscape of neuromuscular fetal akinesias Journal of Neuromuscular Diseases ·Göknur Haliloğlu,Gianina Ravenscroft	2025	0
3	Long-read sequencing for diagnosis of genetic myopathies BMJ Neurology Open ·Dennis Yeow,Laura Ivete Rudaks,Ryan L. Davis,Karl Ng,Roula Ghaoui,Pak Leng Cheong,Gianina Ravenscroft,Marina Kennerson,Ira W. Deveson,Kishore R. Kumar	2025	1
4	An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene Human Mutation ·Joshua S. Clayton,Mridul Johari,Rhonda L. Taylor,Lein Dofash,G. S. Allan,Gavin Monahan,Peter J. Houweling,Gianina Ravenscroft,Nigel G. Laing	2024	4
5	Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis Neurology Genetics ·J. Parmar,Elyshia McNamara,Phillipa J. Lamont,Kishore R. Kumar,Audrey Rick,Marion Stoll,Pak Leng Cheong,Gianina Ravenscroft	2024	3
6	Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards Journal of Neurology Neurosurgery & Psychiatry ·J. Parmar,Nigel G. Laing,Marina Kennerson,Gianina Ravenscroft	2024	6
7	Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement Journal of Medical Genetics ·Mridul Johari,Ana Töpf,Chiara Folland,Jennifer Duff,Lein Dofash,Pilar Martí,Thomas Robertson,Juan J. Vílchez,Anita Cairns,Elizabeth Harris,Chiara Marini‐Bettolo,Khalid Hundallah,Amal Alhashem,Mohammed Al‐Owain,Reza Maroofian,Gianina Ravenscroft,Volker Straub	2024	0
8	A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing Journal of the Peripheral Nervous System ·Bianca R. Grosz,J. Parmar,Melina Ellis,Samantha J. Bryen,Cas Simons,Andre L. M. Reis,Igor Stevanovski,Ira W. Deveson,Garth A. Nicholson,Nigel G. Laing,Mathew Wallis,Gianina Ravenscroft,Kishore R. Kumar,Steve Vucic,Marina Kennerson	2024	1
9	Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy Brain ·Fabiola Mavillard,Emilia Servián‐Morilla,Lein Dofash,I. Rojas-Marcos,Chiara Folland,Gavin Monahan,Gerardo Gutiérrez‐Gutiérrez,Eloy Rivas,Aurelio Hernández‐Laín,Amador Valladares,Gloria Cantero,José Manuel Morales,Nigel G. Laing,Carmen Paradas,Gianina Ravenscroft,Macarena Cabrera‐Serrano	2023	4
10	Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy Neuropathology and Applied Neurobiology ·Chiara Folland,R. Johnsen,Adriana Botero Gomez,Daniel Trajanoski,Mark R. Davis,U. Moore,Volker Straub,Rita Barresi,Michela Guglieri,Hannah Hayhurst,Andrew M. Schaefer,Nigel G. Laing,Philipa J. Lamont,Gianina Ravenscroft	2022	8
11	Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy Human Mutation ·Daniel E. Lysko,Ana M. Meireles,Chiara Folland,Elyshia McNamara,Nigel G. Laing,Phillipa J. Lamont,Gianina Ravenscroft,William S. Talbot	2022	5
12	FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum Journal of Medical Genetics ·Magdalena Mroczek,Cheryl Longman,Maria Elena Farrugia,S. Kapetanovic García,Didem Ardıçlı,Haluk Topaloğlu,Aurelio Hernández‐Laín,Dıclehan Orhan,Mehmet Alikaşifoğlu,Jennifer Duff,Sabine Specht,Kristen L. Nowak,Gianina Ravenscroft,Katherine R. Chao,Zaheer M. Valivullah,Sandra Donkervoort,Dimah Saade,C. Bönnemann,Volker Straub,Grace Yoon	2022	3
13	A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism Human Molecular Genetics ·Lein Dofash,Gavin Monahan,Emilia Servián‐Morilla,Eloy Rivas,Fathimath Faiz,Patricia A. Sullivan,Emily C. Oates,Joshua S. Clayton,Rhonda L. Taylor,Mark R. Davis,Traude H. Beilharz,Nigel G. Laing,Macarena Cabrera‐Serrano,Gianina Ravenscroft	2022	7
14	A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease Neuropathology and Applied Neurobiology ·Edoardo Malfatti,Tara Catchpool,Sonia Nouioua,Sihem Hellal,Emmanuel Fournier,Robert Carlier,Nastasia Cardone,Mark R. Davis,Nigel G. Laing,Damien Sternberg,Gianina Ravenscroft	2021	6
15	Pseudoperoxidase activity, conformational stability, and aggregation propensity of the His98Tyr myoglobin variant: implications for the onset of myoglobinopathy FEBS Journal ·Stefan Hofbauer,Marcello Pignataro,Marco Borsari,Carlo Augusto Bortolotti,Giulia Di Rocco,Gianina Ravenscroft,Paul G. Furtmüller,Christian Obinger,Marcó Sola,Gianantonio Battistuzzi	2021	2
16	Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene Stem Cell Research ·Joshua S. Clayton,Carolin K. Scriba,Norma B. Romero,Edoardo Malfatti,Safaa Saker,Thierry Larmonier,Kristen L. Nowak,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor	2021	6
17	The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders Molecular Diagnosis & Therapy ·Sarah J. Beecroft,Phillipa J. Lamont,Samantha Edwards,Hayley Goullée,Mark R. Davis,Nigel G. Laing,Gianina Ravenscroft	2020	7
18	A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy Journal of Medical Genetics ·Macarena Cabrera‐Serrano,David Coote,Dimitar N. Azmanov,Hayley Goullée,Erik Andersen,Catriona McLean,Mark R. Davis,Ryosuke Ishimura,Zornitza Stark,Jean‐Michel Vallat,Masaaki Komatsu,Andrew J. Kornberg,Monique M. Ryan,Nigel G. Laing,Gianina Ravenscroft	2020	19
19	Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb Acta Neuropathologica Communications ·Jenni Laitila,Elyshia McNamara,Catherine Wingate,Hayley Goullée,Jacob A. Ross,Rhonda L. Taylor,Robbert van der Pijl,Lisa M. Griffiths,Rachel Harries,Gianina Ravenscroft,Joshua S. Clayton,Caroline A. Sewry,Michael W. Lawlor,Coen A. C. Ottenheijm,Anthony J. Bakker,Julien Ochala,Nigel G. Laing,Carina Wallgren‐Pettersson,Katarina Pelin,Kristen L. Nowak	2020	8
20	Bi-allelic mutations in MYL1 cause a severe congenital myopathy Human Molecular Genetics ·Gianina Ravenscroft,Irina Zaharieva,Carlo Augusto Bortolotti,Matteo Lambrughi,Marcello Pignataro,Marco Borsari,Caroline A. Sewry,Rahul Phadke,Göknur Haliloğlu,Royston Ong,Hayley Goullée,Tamieka Whyte,Adnan Manzur,Beril Talim,Ülkühan Kaya,Daniel P. S. Osborn,Alistair R. R. Forrest,Nigel G. Laing,Francesco Muntoni	2018	29

About Gianina Ravenscroft

Gianina Ravenscroft is a scholar working on Genetics, Cardiology and Cardiovascular Medicine and Cellular and Molecular Neuroscience, having authored 94 papers that have together received 1.5k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (43 papers), Cardiomyopathy and Myosin Studies (42 papers), Neurogenetic and Muscular Disorders Research (28 papers), Genetic Neurodegenerative Diseases (18 papers), Genomics and Rare Diseases (13 papers), RNA modifications and cancer (11 papers), Cellular transport and secretion (10 papers) and Genetics and Neurodevelopmental Disorders (9 papers). The work is most often cited by research in Genetics (367 citations), Cardiology and Cardiovascular Medicine (628 citations) and Cellular and Molecular Neuroscience (313 citations). Gianina Ravenscroft has collaborated with scholars based in Australia, United Kingdom and United States. Frequent co-authors include Nigel G. Laing, Kristen L. Nowak, Mark R. Davis, Sarah J. Beecroft, Elyshia McNamara, Phillipa J. Lamont, Carsten G. Bönnemann, Steven B. Marston, Connie Jackaman and Anthony J. Bakker. Their work appears in journals such as Journal of Clinical Investigation, PLoS ONE and Brain.

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