Chiara Folland

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 8

Top Topics

Top Venues

medRxiv : the preprint server for health sciences

Neurology. Genetics

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

Publications

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)
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)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (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)
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)