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S

Samuel F. Berkovic

austin research institute
H指数:145
被引数:7.9万

个人简介

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荣誉奖项

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SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

<i>SLC7A6OS</i>始祖突变：一种可追溯至1100年前的进行性肌阵挛癫痫的罕见病因

Movement Disorders
IF7.6
2026-09-180
OAAI
Bronwyn E. Grinton BSc; Colin A. Ellis MD; Mered Parnes MD; Laina Lusk Stripe MMSc; Jacob E. Munro MIT; Laure Mazzola MD PhD; Pamela P. McDonnell MD; Betül Baykan MD; Volkan Taşdemir MD; Mariam Hull MD; Krystal Sully MD; Sara Cabet MD PhD; Anna-Elina Lehesjoki MD PhD; Nerses Bebek MD PhD; Melanie Bahlo PhD; Samuel F. Berkovic MD FRS; Gaetan Lesca MD PhD; Karen L. Oliver PhD
Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

遗传性全身性癫痫患者中多基因风险评分与临床表型的相关性

Epilepsia
IF6.6
2026-09-100
OAAI
Sophie von Brauchitsch; Nils Hartung; Robin A. Karge; Bobby Koeleman; Samuel F. Berkovic; Danielle M. Andrade; Francesca Bisulli; Antonio Gambardella; Renzo Guerrini; Ingrid E. Scheffer; Ingo Helbig; Wolfram S. Kunz; Holger Lerche; Hiltrud Muhle; Christian Boßelmann; Savvas S. Papacostas; Mark I. Rees; Sanjay M. Sisodiya; Pasquale Striano; Lynnette Sadleir; Yvonne Weber; Dennis Lal; Costin Leu; Philipp S. Reif; Stefan Wolking; Felix Rosenow; Karl Martin Klein; for the Epi25 Collaborative
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
Epilepsia
IF0
2026-01-280
OAAI
Sebastian Ortiz; Leonardo Affronte; Chiara Bagliani; Serene El-Kamand; Anthony Sze Hon Kan; Isabel T. Kristoffersen; Rebekka S. Dahl; Anne F. Højte; Stéphane Auvin; Arjan Bouman; Shimriet Zeidler; Gerhard Kluger; Gaetan Lesca; Nicolas Chatron; Zeynep Goke-Samar; Maria T. Papadopoulou; Matthildi Athina Papathanasiou Terzi; Elise Schaefer; Anne de Saint Martin; Sarah Baer; Mohammed Al Owain; Saud Takroni; Hesham Al-Dhalaan; Paolo Bonanni; Alessandra Rossi; Nicoletta Zanotta; Marina Trivisano; Nicola Specchio; Angela de Dominicis; Pasquale Striano; Alessandro Orsini; Maria Margherita Mancardi; Sebastian Neuens; Melanie Jennesson-Lyver; Ira Benkel-Herrenbrueck; David Genevieve; Richard Sidlow; Kamer Tezcan; Ilona Krey; Johannes R. Lemke; Konrad Platzer; Damien Lederer; Inga Talvik; Ulvi Vaher; Kees P. J. Braun; Anne-Marie Guerrot; Rebecca More; Matthias De Wachter; Sarah Weckhuysen; Evelina Carapancea; Maria Roberta Cilio; Julia Jacobs; Katalin Sterbova; Simona Balestrini; Renzo Guerrini; Giulio Peroni; Inger-Lise Mero; Walaa ElNaggar; Nour Elkhateeb; Ariane Schmetz; Denise L. Chan; Ghayda M. Mirzaa; Boris Chaumette; Adrien Legrand; Amy McTague; Tommy Stödberg; Rebekah V. Harris; Samuel F. Berkovic; Ingrid E. Scheffer; Mary Chebib; Elena Gardella; Philip K. Ahring; Nathan L. Absalom; Rikke S. Møller
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性还是隐性

Journal of Clinical Investigation
IF13.6
2026-01-160
PRE
Johannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K.
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation

双侧额叶室管膜下结节性异位：一种独特的皮层畸形

European Journal of Paediatric Neurology
IF2.3
2025-12-010
PRE
Hoogwijs, Ine; Mandelstam, Simone A.; Mcgillivray, George; Halliday, Benjamin J.; Yiu, Eppie M.; Macdonald-Laurs, Emma; Perry, David; Patel, Rakesh; Gabbett, Michael; Patel, Chirag; Malone, Stephen; Fahey, Michael; Gill, Deepak; Field, Mike; Delatycki, Martin B.; Mohammad, Shekeeb; Berkovic, Samuel F.; Scheffer, Ingrid E.; Lockhart, Paul J.; Jackson, Graeme D.; Jansen, Anna C.; Robertson, Stephen P.; Leventer, Richard J.
SUDEP risk is influenced by longevity genomics: a polygenic risk score study

SUDEP风险受长寿基因组学的影响：一项多基因风险评分研究

eBioMedicine
IF10.8
2025-07-280
OA
Helena Martins; James D. Mills; Susanna Pagni; Medine I. Gulcebi; Angeliki Vakrinou; Patrick B. Moloney; Lisa M. Clayton; Ravishankara Bellampalli; Hannah Stamberger; Sarah Weckhuysen; Pasquale Striano; Federico Zara; Richard D. Bagnall; Rebekah V. Harris; Kate M. Lawrence; Lynette G. Sadleir; Douglas E. Crompton; Daniel Friedman; Juliana Laze; Ling Li; Samuel F. Berkovic; Christopher Semsarian; Ingrid E. Scheffer; Orrin Devinsky; Karoline Kuchenbaecker; Simona Balestrini; Sanjay M. Sisodiya
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants

提高家族性和散发性脑海绵状血管瘤的遗传诊断率：检测拷贝数变异和深部内含子变异

HUMAN MOLECULAR GENETICS
IF3.2
2025-05-220
OA
Sikta, Neblina; Gooley, Samuel; Green, Timothy E.; Hoeper, Olivia; Witkowski, Tom; Bennett, Caitlin; Francis, David; Reid, Joshua; Mao, Kevin; Awad, Mohammed; Roberts-Thomson, Samuel; Bulluss, Kristian; Clark, Jonathan; Scheffer, Ingrid E.; Perucca, Piero; Bennett, Mark F.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy

与进行性肌阵挛癫痫和家族性成人肌阵挛癫痫相关的MARCHF6重复扩展的新型、复杂构型

BRAIN COMMUNICATIONS
IF4.5
2025-01-010
OAAI
Bennett, Mark F.; Corbett, Mark A.; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L.; Cameron, Jillian M.; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G.; Ibanez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F.; Bahlo, Melanie

研究方向

暂未获取到该数据
I
Ingrid E. Scheffer
H 指数:141论文数:1,048被引数:8.8万
J
John C. Mulley
H 指数:81论文数:264被引数:2.4万
M
Michael S. Hildebrand
H 指数:52论文数:302被引数:9,302
M
Melanie Bahlo
H 指数:76论文数:479被引数:2.1万
G
Graeme D. Jackson
H 指数:87论文数:529被引数:2.5万
L
Leanne M. Dibbens
H 指数:0论文数:0被引数:0
S
Steven Petrou
H 指数:69论文数:361被引数:1.5万
K
Karen Oliver
H 指数:47论文数:148被引数:3.8万
L
Lynette G. Sadleir
H 指数:47论文数:143被引数:9,177
T
Terence J. O’Brien
H 指数:96论文数:1,234被引数:4.0万