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C

Carsten G. Bönnemann

St Jude Children's Research Hospital
H指数:76
被引数:2.1万

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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy

SRPK3/TTN双基因肌病的早期临床、影像及病理特征

Annals of Clinical and Translational Neurology
IF3.9
2026-05-010
OAAI
Orbach, Rotem; Donkervoort, Sandra; Hedberg-Oldfors, Carola; Baranello, Giovanni; Saade, Dimah; D'Souza, Precilla; Patel, Ruchee; Michael, Eva; Foley, A. Reghan; Bharucha-Goebel, Diana; Haugland, S. Jin; McAnally, Meghan; Hamid, Omer Abdul; Chao, Katherine; Macnamara, Ellen F.; Beggs, Alan H.; Sarkozy, Anna; Mueller, Juliane; Moore, Steven A.; Finkel, Richard S.; Tifft, Cynthia J.; Muntoni, Francesco; Oldfors, Anders; Bonnemann, Carsten G.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

DARS2基因的biallelic变异作为轴索型Charcot–Marie–Tooth病的全新病因

Annals of Neurology
IF7.7
2025-08-150
OAAI
Berta Estévez-Arias MSc; Siiri Sarv MSc; Nathalie Bonello-Palot PhD; Laura Carrera-García MD; Carlos Ortez MD; Jesica Expósito-Escudero MD; Delia Yubero PhD; Jordi Muchart MD; Emilien Delmont MD; Eve Õiglane-Shlik MD, PhD; Teele Meren MD; Sanna Puusepp MD, PhD; Ülle Murumets MD; Gajja S. Salomons PhD; Bjarne Udd MD, PhD; Liis Väli MD, PhD; Lara Cantarero PhD; Carsten G. Bönnemann MD; Andrés Nascimento MD, PhD; Santiago Ramón-Maiques PhD; Katrin Õunap MD, PhD; Janet Hoenicka PhD; Daniel Natera-de Benito MD, PhD; Francesc Palau MD, PhD
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
Justyne E Ross; May Flowers; Shannon McNulty; Mayher Patel; Hui Yang; Brooke Palus; Marwa Abdelmoneim Elnagheeb; Lucy Eng; Emma Owens; Alan H Beggs; Enrico Bertini; Adele D'Amico; Sandra Donkervoort; James Dowling; Fabiana Fattori; Ana Ferreiro; Casie A Genetti; Hernan Gonorazky; Monkol Lek; Amanda Lindy; Livija Medne; Francesco Muntoni; Sander Pajusalu; Katarina Pelin; John Rendu; Anna Sarkozy; Matteo Vatta; Tom Winder; Grace Yoon; Carsten G Bönnemann; Ozge Ceyhan-Birsoy
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6,500个罕见病家庭的外显子组和基因组测序数据进行系统分析，实现了线粒体DNA变异的检测，从而解决了未确诊病例。

Human Genetics and Genomics Advances
IF3.6
2025-04-150
OAAI
Sarah L. Stenton; Kristen Laricchia; Nicole J. Lake; Sushma Chaluvadi; Vijay Ganesh; Stephanie DiTroia; Ikeoluwa Osei-Owusu; Lynn Pais; Emily O’Heir; Christina Austin-Tse; Melanie O’Leary; Mayada Abu Shanap; Chelsea Barrows; Seth Berger; Carsten G. Bönnemann; Kinga M. Bujakowska; Dean R. Campagna; Alison G. Compton; Sandra Donkervoort; Mark D. Fleming; Anne O’Donnell-Luria
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-02-090
OA
Mccarty, Riley M.; Saade, Dimah; Munot, Pinki; Laverty, Chamindra G.; Pinz, Hailey; Zou, Yaqun; Mcanally, Meghan; Yun, Pomi; Tian, Cuixia; Hu, Ying; Feng, Lucy; Phadke, Rahul; Ceulemans, Sophia; Magoulas, Pilar; Skalsky, Andrew J.; Friedman, Jennifer R.; Braddock, Stephen R.; Neuhaus, Sarah B.; Malicki, Denise M.; Bainbridge, Matthew N.; Nahas, Shareef; Dimmock, David P.; Kingsmore, Stephen F.; Lotze, Timothy E.; Foley, A. Reghan; Muntoni, Francesco; Straub, Volker; Donkervoort, Sandra; Bonnemann, Carsten G.
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
FEBS JOURNAL
IF4.2
2025-01-160
OA
Gunasekaran, Mekala; Littel, Hannah R.; Wells, Natalya M.; Turner, Johnnie; Campos, Gloriana; Venigalla, Sree; Estrella, Elicia A.; Ghosh, Partha S.; Daugherty, Audrey L.; Stafki, Seth A.; Kunkel, Louis M.; Foley, A. Reghan; Donkervoort, Sandra; Bonnemann, Carsten G.; de Laguna, Laura Toledo-Bravo; Nascimento, Andres; Natera-de Benito, Daniel; Draper, Isabelle; Bruels, Christine C.; Pacak, Christina A.; Kang, Peter B.
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

在基因组、外显子组和基因 panel 测序数据集中诊断脊髓性肌萎缩症漏诊病例

GENETICS IN MEDICINE
IF6.2
2024-12-011
PRE
Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

针对50型遗传性痉挛性截瘫的AAV基因治疗：单例患者I期临床试验

NATURE MEDICINE
IF50
2024-06-283
OA
Dowling, James J.; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M.; Chen, Xin; Minassian, Berge A.; Cohn, Ronald; Bonnemann, Carsten G.; Gray, Steven J.
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
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy
NEUROLOGY-GENETICS
IF3.7
2024-06-011
OA
Foley, A. Reghan; Yun, Pomi; Leach, Meganne E.; Neuhaus, Sarah B.; Averion, Gilberto V.; Hu, Ying; Hayes, Leslie H.; Donkervoort, Sandra; Jain, Minal S.; Waite, Melissa; Parks, Rebecca; Bharucha-Goebel, Diana X.; Mayer, Oscar H.; Zou, Yaqun; Fink, Margaret; DeCoster, Jameice; Mendoza, Christopher; Arevalo, Cynthia; Hausmann, Rudolf; Petraki, Diana; Cheung, Ken; Bonnemann, Carsten G.
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
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2024-04-032
OA
Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C.
Intrathecal Gene Therapy for Giant Axonal Neuropathy
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-03-219
PRE
Bharucha-Goebel, Diana X.; Todd, Joshua J.; Saade, Dimah; Norato, Gina; Jain, Minal; Lehky, Tanya; Bailey, Rachel M.; Chichester, Jessica A.; Calcedo, Roberto; Armao, Diane; Foley, A. Reghan; Mohassel, Payam; Tesfaye, Eshetu; Carlin, Bradley P.; Seremula, Beth; Waite, Melissa; Zein, Wadih M.; Huryn, Laryssa A.; Crawford, Thomas O.; Sumner, Charlotte J.; Hoke, Ahmet; Heiss, John D.; Charnas, Lawrence; Hooper, Jody E.; Bouldin, Thomas W.; Kang, Elizabeth M.; Rybin, Denis; Gray, Steven J.; Bonnemann, Carsten G.

研究方向

暂未获取到该数据
S
Sandra Donkervoort
H 指数:46论文数:312被引数:9,118
A
A. Reghan Foley
H 指数:40论文数:173被引数:7,280
P
Payam Mohassel
H 指数:27论文数:105被引数:2,554
L
Līvija Medne
H 指数:43论文数:130被引数:6,696
胡莹 封面图
胡莹
H 指数:24论文数:107被引数:3,013
D
Diana Bharucha‐Goebel
H 指数:24论文数:136被引数:2,430
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
V
Véronique Bolduc
H 指数:18论文数:62被引数:1,977
J
Jahannaz Dastgir
H 指数:22论文数:96被引数:1,735
D
Dimah Saade
H 指数:22论文数:76被引数:1,763