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Thomas Eggermann

rwth university aachen

61H指数
493论文数
1.7W被引数
收录论文 137
发表时间
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Author Correction: Diagnosis and management of Silver–Russell syndrome: second international consensus statement作者更正：Silver–Russell综合征的诊断与管理：第二份国际共识声明
errNature Reviews Endocrinology
IF40
err2026-09-30
err0
PREAI
errEmma Wakeling; Justin H. Davies; Eloïse Giabicani; Susan M. O’Connell; Madeleine D. Harbison; Amélie Perriere; Jennifer B. Salem; Matthias Begemann; Gerhard Binder; Frédéric Brioude; Dayna Morris-Carney; Jovanna Dahlgren; Bea Dickinson; Bruno Donadille; Beatrice Dubern; Katja Eggermann; Gabriella Gazdagh; Karen Grønskov; Anita C. Hokken Koelega; Youn Hee Jee; Alicia Jurians; Masayo Kagami; Satomi Koyama; Emilie Kulak; Asmahane Ladjouze; Paola Lombardi; Mohamad Maghnie; Louise McClelland; Veronica Mericq; Giuseppa Patti; Klaudia Raabe; Andrea Riccio; Silvia Russo; Helen L. Storr; I. Karen Temple; Zeynep Tümer; Thomas Eggermann; Deborah J. G. Mackay; Irene Netchine
err分享
err收藏
Diagnosis and management of Silver–Russell syndrome: second international consensus statement银- Russell 综合征的诊断与管理：第二届国际共识声明
errNature Reviews Endocrinology
IF40
err2026-09-23
err0
PREAI
errEmma Wakeling; Justin H. Davies; Eloïse Giabicani; Susan M. O’Connell; Madeleine D. Harbison; Amélie Perriere; Jennifer B. Salem; Matthias Begemann; Gerhard Binder; Frédéric Brioude; Dayna Morris-Carney; Jovanna Dahlgren; Bea Dickinson; Bruno Donadille; Beatrice Dubern; Katja Eggermann; Gabriella Gazdagh; Karen Grønskov; Anita C. Hokken Koelega; Youn Hee Jee; Alicia Jurians; Masayo Kagami; Satomi Koyama; Emilie Kulak; Asmahane Ladjouze; Paola Lombardi; Mohamad Maghnie; Louise McClelland; Veronica Mericq; Guiseppa Patti; Klaudia Raabe; Andrea Riccio; Silvia Russo; Helen L. Storr; I. Karen Temple; Zeynep Tümer; Thomas Eggermann; Deborah J. G. Mackay; Irene Netchine
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err收藏
Genetic testing and reporting: What the endocrinologists should know and can expect (Joint position paper of the ENDO-ERN)遗传检测与报告：内分泌科医生应知应会（ENDO-ERN联合立场文件）
errEuropean Journal of Endocrinology
IF5.2
err2026-09-16
err0
PREAI
errThomas Eggermann; Dorte L Lildballe; Martine Cools; Bernadette von Nesselrooij; Vassos Neocleous; Pavlos Fanis; Athanasia Stoupa; Maria Louisa Brandi; Federico Baronio; Anne Barlier; Corinna Grasemann; Marco Bonomi; Ronald de Krijger; Soara Menabò; Adrian F Daly; Sofia Asioli; Susan O´Connell; Pedro Marques; Gérald Raverot; Federico Gatto; Nienke Biermaz; Iris Pelsma; Danielle van der Kaay; Claus H Gravholt; Luca Persani; Leonidas Phylactou; Dirk Prawitt
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JS5.3 - Transversal working group on genomic testingJS5.3 - 基因组检测横向工作组
errEuropean Journal of Endocrinology
IF5.2
err2026-08-10
err0
errOAAI
errThomas Eggermann
err分享
err收藏
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)产前基因检测在贝克威思-威德曼综合征中的应用：考量、挑战与观察（一项真实世界研究）
errPrenatal Diagnosis
IF2.7
err2026-06-25
err0
errOAAI
errMelissa Connolly; Louise McClelland; Pierpaola Tannorella; Tanja Richter; Ester Mainini; Andreas Dufke; Annette Lischka; Matthias Begemann; Katja Eggermann; Thomas Eggermann; Silvia Russo
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The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients全基因组测序在药物遗传学中的潜力：一项针对罕见病患者的回顾性健康记录研究
errEuropean Journal of Human Genetics
IF4.6
err2026-02-04
err0
errOAAI
errMadeline Gorny; Katja S. Just; Tim Krüger; Matthias Begemann; Florian Kraft; Thomas Eggermann; Jeremias Krause; Miriam Elbracht
err分享
err收藏
EndoCompass Project: Research Roadmap for Growth DisordersEndoCompass项目：生长障碍研究路线图
errHORMONE RESEARCH IN PAEDIATRICS
IF2.7
err2025-12-01
err0
errOAAI
errGevers, Evelien F.; Hokken-Koelega, Anita C.; Tauber, Maithe; Binder, Gerhard; Bochukova, Elena G.; Bouret, Sebastien G.; Caixas, Assumpta; Davies, Justin H.; Dauber, Andrew; Edouard, Thomas; Eggermann, Thomas; Giabicani, Eloise; Netchine, Irene; Nilsson, Ola; Saravinovska, Kristina; van der Steen, Manouk; Tartaglia, Marco; Tatton-Brown, Katrina; Temple, I. Karen; Yart, Armelle; Zenker, Martin
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EndoCompass project: research roadmap for growth disordersEndoCompass项目：生长障碍的研究路线图
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2025-10-01
err0
PREAI
errGevers, Evelien F.; Hokken-Koelega, Anita C.; Tauber, Maithe; Binder, Gerhard; Bochukova, Elena G.; Bouret, Sebastien G.; Caixas, Assumpta; Davies, Justin H.; Dauber, Andrew; Edouard, Thomas; Eggermann, Thomas; Giabicani, Eloise; Netchine, Irene; Nilsson, Ola; Saravinovska, Kristina; van der Steen, Manouk; Tartaglia, Marco; Tatton-Brown, Katrina; Temple, I. Karen; Yart, Armelle; Zenker, Martin
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Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype母系单亲二倍体7号染色体：7号染色体编码的印记基因如何促成Silver-Russell表型
errCLINICAL EPIGENETICS
IF4.4
err2025-04-30
err0
errOAAI
errBegemann, Matthias; Lengyel, Anna; Pinti, Eva; Kovacs, Arpad Ferenc; Fekete, Gyorgy; Stratmann, Svea; Krause, Jeremias; Elbracht, Miriam; Kraft, Florian; Eggermann, Thomas
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Modulating effects of fitness and physical activity on Alzheimer's disease: Implications from a six-month randomized controlled sports intervention健身和体育锻炼对阿尔茨海默病的调节作用: 六个月随机对照运动干预的影响
errJOURNAL OF ALZHEIMERS DISEASE
IF3.1
err2025-01-15
err0
errOAAI
errDavid, Shari; Costa, Ana S.; Hohenfeld, Christian; Romanzetti, Sandro; Mirzazade, Shahram; Pahl, Jennifer; Haberl, Luisa; Schneider, Kai M.; Kilders, Axel; Eggermann, Thomas; Trautwein, Christian; Hildebrand, Frank; Schulz, Joerg B.; Reetz, Kathrin; Haeger, Alexa
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The effect of the COMT val158met polymorphism on neural correlates of semantic verbal fluency (vol 259, pg 459, 2009)
errEUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
IF3.7
err2024-09-30
err0
PREAI
errKrug, Axel; Markov, Valentin; Sheldrick, Abigail; Krach, Soeren; Jansen, Andreas; Zerres, Klaus; Eggermann, Thomas; Stoecker, Tony; Jon Shah, N.; Kircher, Tilo
err分享
err收藏
Automatized detection of uniparental disomies in a large cohort在大型队列中自动检测单亲父母
errHUMAN GENETICS
IF3.6
err2024-07-16
err2
errOAAI
errMoch, Johanna; Radtke, Maximilian; Liehr, Thomas; Eggermann, Thomas; Gilissen, Christian; Pfundt, Rolph; Astuti, Galuh; Hentschel, Julia; Schumann, Isabell
err分享
err收藏
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
errBRAIN
IF11.7
err2023-09-28
err6
errOAAI
errLischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo
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Imprinting disorders
errNATURE REVIEWS DISEASE PRIMERS
IF60.6
err2023-06-29
err22
PREAI
errEggermann, Thomas; Monk, David; de Nanclares, Guiomar Perez; Kagami, Masayo; Giabicani, Eloise; Riccio, Andrea; Tumer, Zeynep; Kalish, Jennifer M.; Tauber, Maithe; Duis, Jessica; Weksberg, Rosanna; Maher, Eamonn R.; Begemann, Matthias; Elbracht, Miriam
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
errCLINICAL EPIGENETICS
IF4.4
err2023-03-01
err5
errOAAI
errBilo, Larissa; Ochoa, Eguzkine; Lee, Sunwoo; Dey, Daniela; Kurth, Ingo; Kraft, Florian; Rodger, Fay; Docquier, France; Toribio, Ana; Bottolo, Leonardo; Binder, Gerhard; Fekete, Gyoergy; Elbracht, Miriam; Maher, Eamonn R.; Begemann, Matthias; Eggermann, Thomas
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err收藏
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI
errTRANSLATIONAL PSYCHIATRY
IF6.2
err2023-02-16
err13
errOAAI
errGaebler, Arnim J.; Fakour, Niluefer; Stoehr, Felix; Zweerings, Jana; Taebi, Arezoo; Suslova, Mariia; Dukart, Juergen; Hipp, Joerg F.; Adhikari, Bhim M.; Kochunov, Peter; Muthukumaraswamy, Suresh D.; Forsyth, Anna; Eggermann, Thomas; Kraft, Florian; Kurth, Ingo; Paulzen, Michael; Gruender, Gerhard; Schneider, Frank; Mathiak, Klaus
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Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability
errDEUTSCHES ARZTEBLATT INTERNATIONAL
IF7.1
err2022-12-27
err1
errOAAI
errKnopp, Cordula; Steiner, Robin; Lausberg, Eva; von Hoegen, Caroline; Busse, Sabine; Meyer, Robert; Eggermann, Katja; Schueler, Herdit; Begemann, Matthias; Eggermann, Thomas; Kurth, Ingo; Schulz, Joerg B.; Elbracht, Miriam; Maier, Andrea
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err收藏
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
errCLINICAL EPIGENETICS
IF4.4
err2022-11-07
err20
errOAAI
errMackay, Deborah; Bliek, Jet; Kagami, Masayo; Tenorio-Castano, Jair; Pereda, Arrate; Brioude, Frederic; Netchine, Irene; Papingi, Dzhoy; de Franco, Elisa; Lever, Margaret; Sillibourne, Julie; Lombardi, Paola; Gaston, Veronique; Tauber, Maithe; Diene, Gwenaelle; Bieth, Eric; Fernandez, Luis; Nevado, Julian; Tumer, Zeynep; Riccio, Andrea; Maher, Eamonn R.; Beygo, Jasmin; Tannorella, Pierpaola; Russo, Silvia; de Nanclares, Guiomar Perez; Temple, I. Karen; Ogata, Tsutomu; Lapunzina, Pablo; Eggermann, Thomas
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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-08-01
err19
errOAAI
errVitobello, Antonio; Mazel, Benoit; Lelianova, Vera G.; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G.; Scott, Daryl A.; Chan, Katie M.; Rosenfeld, Jill A.; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Mau-Them, Frederic Tran; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K.; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andree; Agathe, Jean-Madeleine De Sainte; Buratti, Julien; Kozlov, Serguei, V; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri
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Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-06-30
err0
PREAI
errEggermann, Thomas
err分享
err收藏

研究方向

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合作学者
合作期刊
N
Nicholas J. Wareham
H 指数: 233 · 论文数: 2.2K
M
Mark I. McCarthy
H 指数: 222 · 论文数: 1.5K
B
Brenda W.J.H. Penninx
H 指数: 210 · 论文数: 1.8K
P
Paul Elliott
H 指数: 169 · 论文数: 1.4K
M
Markus M. Nöthen
H 指数: 161 · 论文数: 2.0K
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