F Lucy Raymond (Usha Kini, Lucy Raymond)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 10

Top Topics

Preterm Infants

Muscular Dystrophy

Intellectual Disability

Top Venues

Intensive care medicine

Human molecular genetics

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Nicholas A Donnelly, Adam C Cunningham, Sergio Marco Salas, Matthew Bracher-Smith, Samuel J R A Chawner, Jan Stochl, Tamsin Jane Ford, F Lucy Raymond, Valentina Escott-Price, Marianne B M van den Bree
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular autism 14 (1) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Kimberley M Reid, Robert V V Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen, Hiromi Hirata, Diba Sheipouri, Hind Benkerroum, Kathleen M Gorman, Apostolos Papandreou, Michael A Simpson, Yoshinobu Hirano, Irene Farabella, Andriy Kryshtafovych, Detelina Grozeva, Keren Jacqueline Carss, Martin Smith, Hardev Pall, Peter Lunt, Susanna De Gressi, Erik-Jan Kamsteeg, Tobias B Haack, Lucinda J Carr, Rita Guerreiro, Jose Bras, Eamonn R Maher, Richard H Scott, Robert J Vandenberg, F Lucy Raymond, Wui K Chong, Sniya Valsa Sudhakar, Kshitij Mankad, Maarten E A Reith, Philippe M Campeau, Robert J Harvey, Manju A Kurian
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement disorders : official journal of the Movement Disorder Society 37 (10) (2022)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Wen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, Emanuele Bellacchio, Courtney E French, Benjamin Munro, Toni S Pearson, Julie Vogt, Daria Diodato, Tue Diemer, Anja Ernst, Rita Horvath, Manali Chitre, Jakob Ek, Flemming Wibrand, Dorothy K Grange, F Lucy Raymond, Xiao-Long Zhou, Robert W Taylor, Elsebet Østergaard
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Human molecular genetics (2021)
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco, Helen Firth, null null, null null, David H Rowitch, F Lucy Raymond
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive care medicine 45 (5) (2019)
Hemant Bengani, Mark Handley, Mohsan Alvi, Christoffer Nellåker, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, Ann Nordgren, M Kvarnung, Sarju Mehta, Sarju G Mehta, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, null null, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Alejandro Sifrim, Matthew E Hurles, Helen V Firth, F Lucy Raymond, F Lucy Raymond, Christoffer Nellåker, null Ddd Study, David R FitzPatrick
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)