Gianina Ravenscroft (Gina Ravenscroft, G Ravenscroft)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 35

Top Topics

Muscular Dystrophy

Top Venues

Neurology. Genetics

Brain : a journal of neurology

Journal of medical genetics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. Journal of medical genetics (2024)
Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stéphane D Vincent, Orly Elpeleg, Làszlò Tora
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain : a journal of neurology (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan J Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement. medRxiv : the preprint server for health sciences (2024)
Jevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, Kishore Raj Kumar, Audrey Rick, Marion Stoll, Pak Leng Cheong, Gianina Ravenscroft
Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report. Neurology. Genetics 10 (3) (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan J Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement. medRxiv : the preprint server for health sciences (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian, Gianina Ravenscroft, Volker Straub
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. Journal of medical genetics (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of neurology, neurosurgery, and psychiatry (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stephane D Vincent, Orly Elpeleg, Làszlò Tora
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain : a journal of neurology 147 (8) (2024)
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of neurology, neurosurgery, and psychiatry (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, Iñigo Rojas-Marcos, Chiara Folland, Gavin Monahan, Gerardo Gutiérrez-Gutiérrez, Eloy Rivas, Aurelio Hernández-Lain, Amador Valladares, Gloria Cantero, Jose M Morales, Nigel G Laing, Carmen Paradas, Gianina Ravenscroft, Macarena Cabrera-Serrano
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy. Brain : a journal of neurology (2023)
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona A Mclean, Andrew J Kornberg, Anne H O'Donnell-Luria, Heidi L Rehm, Igor Stevanovski, Sanjog R Chintalaphani, Paul Kennedy, Ira W Deveson, Gianina Ravenscroft
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurology. Genetics 9 (2) (2023)
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil İbrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O'Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain : a journal of neurology 145 (11) (2022)
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon
FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum. Journal of medical genetics 59 (11) (2022)
Lein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, Eloy Rivas, Fathimath Faiz, Patricia Sullivan, Emily Oates, Joshua Clayton, Rhonda L Taylor, Mark R Davis, Traude Beilharz, Nigel G Laing, Macarena Cabrera-Serrano, Gianina Ravenscroft
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism. Human molecular genetics (2022)
Stefan Hofbauer, Marcello Pignataro, Marco Borsari, Carlo Augusto Bortolotti, Giulia Di Rocco, Gianina Ravenscroft, Paul Georg Furtműller, Christian Obinger, Marco Sola, Gianantonio Battistuzzi
Pseudoperoxidase activity, conformational stability, and aggregation propensity of the His98Tyr myoglobin variant: implications for the onset of myoglobinopathy. The FEBS journal (2021)
Gianina Ravenscroft, Macarena Cabrera-Serrano
Another step towards defining the genetic landscape of rhabdomyolysis. Brain : a journal of neurology 144 (9) (2021)
Sarah J Beecroft, Phillipa J Lamont, Samantha Edwards, Hayley Goullée, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders. Molecular diagnosis & therapy 24 (6) (2020)
Gianina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Rob Cincotta, Phillip Moon, Ben Kamien, Matthew Edwards, Martin Delatycki, Phillipa J Lamont, Sophelia Hs Chan, Alison Colley, Alan Ma, Felicity Collins, Lucinda Hennington, Teresa Zhao, George McGillivray, Sondhya Ghedia, Katherine Chao, Anne O'Donnell-Luria, Nigel G Laing, Mark R Davis
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Journal of medical genetics 58 (9) (2020)
Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, Hayley Goullee, Erik Andersen, Catriona McLean, Mark Davis, Ryosuke Ishimura, Zornitza Stark, Jean-Michel Vallat, Masaaki Komatsu, Andrew Kornberg, Monique Ryan, Nigel G Laing, Gianina Ravenscroft
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. Journal of medical genetics 57 (12) (2020)
Gianina Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 30 (9) (2018)
Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah A Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS genetics 14 (12) (2018)