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R

Rachel Thompson

Children's Hospital of Eastern Ontario
H指数:26
被引数:3,601

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Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene

对101个神经肌肉疾病家系下一代测序数据的系统性再分析提高了诊断率，揭示了内含子变异，并鉴定出一个新的疾病基因

Journal of Neurology
IF4.6
2026-07-200
PRE
Sivasankar Malaichamy; Kiran Polavarapu; Rachel Thompson; Romane Idoux; Sally Spendiff; Veronika Karcagi; Agnes Herczegfalvi; Momen Almomen; Rosana Herminia Scola; Paulo José Lorenzoni; Edmar Zanoteli; Antonio Alberto Zambon; Clara Gontijo Camelo; Eduardo de Paula Estephan; Thenral S. Geetha; Vedam L. Ramprasad; Seena Vengalil; Saraswati Nashi; Muddassu Keerthipriya; Dipti Baskar; Veeramani Preethish-Kumar; Ananthapadmanabha Kotambail; David Muhmann; Ulrike Schara-Schmidt; Steven Laurie; Leslie Matalonga; Sergi Beltran; Andreas Roos; Ivo Barić; Atchayaram Nalini; Hanns Lochmüller
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

一种与双等位基因LEMD2变异相关的肌营养不良：扩展核包膜病的基因型

Brain Pathology
IF6.2
2026-03-030
OAAI
Marc Pauper; Heike Kölbel; Iakowos Karakesisoglou; Anne Schänzer; Johann Böhm; Rachel Thompson; Nicolai Kohlschmidt; Bernd Ringel; Gisèle Bonne; Katja Neuhoff; Andrea Gangfuß; Ozge Aksel Kilicarslan; Sergi Beltran Agullo; Andreas Hentschel; Ulrike Schara-Schmidt; Hanns Lochmüller; Kiran Polavarapu; Andreas Roos
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

显性肌溶解症与复发ATP2A2变异相关，该变异降低了肌肉中SERCA2的功能

BRAIN
IF11.7
2025-05-010
OAAI
Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
PEDIATRIC NEUROLOGY
IF2.1
2024-08-010
PRE
Natera-deBenito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Ribeiro, Joana Afonso; Fernandez-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estevez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmuller, Hanns; Selcen, Duygu
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
NATURE COMMUNICATIONS
IF15.7
2024-02-283
OAAI
Nunez-Carpintero, Iker; Rigau, Maria; Bosio, Mattia; O'Connor, Emily; Spendiff, Sally; Azuma, Yoshiteru; Topf, Ana; Thompson, Rachel; 't Hoen, Peter A. C.; Chamova, Teodora; Tournev, Ivailo; Guergueltcheva, Velina; Laurie, Steven; Beltran, Sergi; Capella-Gutierrez, Salvador; Cirillo, Davide; Lochmueller, Hanns; Valencia, Alfonso
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Euro-nmd注册表: 联邦公平基础设施，创新技术和以患者为中心的罕见神经肌肉疾病注册表的概念

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-02-147
OAAI
Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A. C.; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, Francois; Plancon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G. J.; de Visser, Marianne; Claeys, Kristl G.; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D.; Lochmuller, Hanns; Evangelista, Teresinha
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
MED
IF11.8
2023-12-013
OA
Carmody, Leigh C.; Gargano, Michael A.; Toro, Sabrina; Vasilevsky, Nicole A.; Adam, Margaret P.; Blau, Hannah; Chan, Lauren E.; Gomez-Andres, David; Horvath, Rita; Kraus, Megan L.; Ladewig, Markus S.; Lewis-Smith, David; Lochmueller, Hanns; Matentzoglu, Nicolas A.; Munoz-Torres, Monica C.; Schuetz, Catharina; Seitz, Berthold; Similuk, Morgan N.; Sparks, Teresa N.; Strauss, Timmy; Swietlik, Emilia M.; Thompson, Rachel; Zhang, Xingmin Aaron; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N.
Unique genotypic pattern in Indian DPAGT1 congenital myasthenic syndrome patients with two likely founder mutations
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Polavarapu, Kiran; Sunitha, Balaraju; Topf, Ana; Vengalil, Seena; Nashi, Saraswati; Kumar, Veeramani Preethish; Thompson, Rachel; Sanka, Sai Bhargava; Baskar, Dipti; Unnikrishnan, Gopikrishan; Huddar, Akshata; Porter, Anna; Azuma, Yoshiteru; Bardhan, Mainak; Arunachal, Gautham; Horvath, Rita; Nalini, Atchayaram; Lochmueller, Hanns
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
BRAIN
IF11.7
2023-09-182
OA
Polavarapu, Kiran; Sunitha, Balaraju; Topf, Ana; Preethish-Kumar, Veeramani; Thompson, Rachel; Vengalil, Seena; Nashi, Saraswati; Bardhan, Mainak; Sanka, Sai Bhargava; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Arunachal, Gautham; Girija, Manu Santhappan; Porter, Anna; Azuma, Yoshiteru; Lorenzoni, Paulo Jose; Baskar, Dipti; Anjanappa, Ram Murthy; Keertipriya, Madassu; Padmanabh, Hansashree; Harikrishna, Ganaraja Valakunja; Laurie, Steve; Matalonga, Leslie; Horvath, Rita; Nalini, Atchayaram; Lochmuller, Hanns
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
HUMAN MUTATION
IF3.7
2022-02-1732
OAAI
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi
A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (vol 15, 206, 2020)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-03-220
OAAI
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2020-08-1225
OAAI
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Rheinard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2020-02-0720
PREAI
Savarese, Marco; Johari, Mridul; Johnson, Katherine; Arumilli, Meharji; Torella, Annalaura; Topf, Ana; Rubegni, Anna; Kuhn, Marius; Giugliano, Teresa; Glaeser, Dieter; Fattori, Fabiana; Thompson, Rachel; Penttila, Sini; Lehtinen, Sara; Gibertini, Sara; Ruggieri, Alessandra; Mora, Marina; Maver, Ales; Peterlin, Borut; Mankodi, Ami; Lochmueller, Hanns; Santorelli, Filippo Maria; Schoser, Benedikt; Fajkusova, Lenka; Straub, Volker; Nigro, Vincenzo; Hackman, Peter; Udd, Bjarne

研究方向

暂未获取到该数据
H
Hanns Lochmüller
H 指数:100论文数:1,567被引数:3.8万
R
Rita Horváth
H 指数:79论文数:636被引数:2.1万
S
Steven Laurie
H 指数:19论文数:97被引数:1,385
S
Sergi Beltrán
H 指数:55论文数:308被引数:2.2万
L
Leslie Matalonga
H 指数:21论文数:83被引数:1,268
K
Kiran Polavarapu
H 指数:22论文数:183被引数:1,447
P
Peter N. Robinson
H 指数:90论文数:798被引数:3.4万
A
Ana Töpf
H 指数:39论文数:256被引数:5,963
S
Sally Spendiff
H 指数:16论文数:66被引数:1,001
O
Olaf Rieß
H 指数:83论文数:484被引数:3.0万