Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R.; Beckmann, Jacques S.; Bronicki, Lucas; Cooper, Sandra T.; Ganesh, Vijay S.; Kang, Peter B.; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J.; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C.

Inferring disease course from differential exon usage in the wide titinopathy spectrum

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2024-08-281

Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-08-280

OAAI

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

NATURE COMMUNICATIONS

IF15.7

2024-07-272

OAAI

Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele

Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-07-180

PRE

Current advance on distal myopathy genetics

CURRENT OPINION IN NEUROLOGY

IF4.4

2024-07-160

PRE

Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

COMMUNICATIONS BIOLOGY

IF5.1

2024-04-101

OAAI

Titin copy number variations associated with dominant inherited phenotypes

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-11-070

Perrin, Aurelien; Metay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Sole, Guilhem; Pereon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Francoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Marechal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A.; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisele; Cossee, Mireille

Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-10-260

PRE

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2023-09-081

OAAI

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

HUMAN MOLECULAR GENETICS