Wojcik, Monica H.; Larkin, Katie; Cipicchio, Michelle; Doupnik, Austin; Zhao, Chen; Cech, Cynthia; Lopez, Douglas; Chandrasekar, Jagadeeswaran; Leadbetter, Joanne; Mannion, John; Berg, Kendall; Golkaram, Mahdi; Osentowski, Mckenna; Freer, Megan; Lehmann, Taylor; Lee, Won-Mean; Ormbrek, Emily; Prindle, Marc J.; Nabavi, Melud; Chaturvedi, Amal; Seberino, Chuck; Baker, Daniel N.; Williams, Cara; Toledo, Diana; Malolepsza, Edyta; Fleharty, Mark; Oza, Andrea; Low, Sophie; Beggs, Alan H.; Genetti, Casie A.; Strickland, Gwendolyn; Anderson, Katherine N.; Chung, Wendy K.; Rehm, Heidi L.; Hofherr, Sean; Kokoris, Mark; Lennon, Niall

A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy

一项关于患者和照护者报告的ADSS1肌病相关见解的多国研究

MUSCLE & NERVE

IF3.1

2025-09-010

PRE

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定

Journal of Neuromuscular Diseases

IF3.4

2025-06-100

PRE

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes

斑马鱼和SELENON-先天性肌病的细胞模型表现出新型的胚胎和代谢表型

SKELETAL MUSCLE

IF4.4

2025-03-150

Family genetic risk communication and reverse cascade testing in the BabySeq project

家庭遗传风险沟通与BabySeq项目中的反向瀑布式检测

GENETICS IN MEDICINE

IF6.2

2025-03-010

PRE

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-11-261

OAAI

Genotype-phenotype correlation in recessive DNAJB4 myopathy

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2024-10-281

OAAI

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

BRAIN

IF11.7

2024-06-080

OAAI

Moeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi

Genome Sequencing for Diagnosing Rare Diseases

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2024-06-0610

PRE

Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne

Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE

IF9.1

2024-05-090

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-05-017

OAAI

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

NATURE GENETICS

IF31.8

2024-03-017

OAAI

Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

EBIOMEDICINE

IF10.8

2024-01-010

OAAI

Lawlor, Michael W.; Schoser, Benedikt; Margeta, Marta; Sewry, Caroline A.; Jones, Karra A.; Shieh, Perry B.; Kuntz, Nancy L.; Smith, Barbara K.; Dowling, James J.; Mueller-Felber, Wolfgang; Boennemann, Carsten G.; Seferian, Andreea M.; Blaschek, Astrid; Neuhaus, Sarah; Foley, A. Reghan; Saade, Dimah N.; Tsuchiya, Etsuko; Qasim, Ummulwara R.; Beatka, Margaret; Prom, Mariah J.; Ott, Emily; Danielson, Susan; Krakau, Paul; Kumar, Suresh N.; Meng, Hui; Vanden Avond, Mark; Wells, Clive; Gordish-Dressman, Heather; Beggs, Alan H.; Christensen, Sarah; Conner, Edward; James, Emma S.; Lee, Jun; Sadhu, Chanchal; Miller, Weston; Sepulveda, Bryan; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador

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

Alan H. Beggs

个人简介

教育背景

工作经历

荣誉奖项

研究方向