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Makale detayı · 2019

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Dergi

The American Journal of Human Genetics

ISSN 0002-9297

ISSN kaydı başka bir dergiye işaret ediyor; ad YÖKSİS kaydından.

YÖKSİS OpenAlex Açık erişim · bronze SJR Q1 JCR Q1 Atıf 311 Üst %1 Yüzdelik 99.8% FWCI 29.29
Yıl
2019
DOI
10.1016/j.ajhg.2019.05.020
Tür
article

Veri kaynağı ayrımı

  • YÖKSİS YÖKSİS makale kaydı
  • YÖKSİS dergi adı The American Journal of Human Genetics
  • Katalog eşleşmesi (ISSN) American Journal of Human Genetics
  • OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)

OpenAlex kaydı

Özet

Özet henüz derlenmedi; DergiPark / OpenAlex kuyruğu işlenince burada görünecek.

Konular

Atıflar

OpenAlex cited_by_count. WoS veya Scopus atıf sayısı değildir; o kaynaklar için ayrı kolon yoktur.

311 atıf

OpenAlex cited_by_count (önbellek / veritabanı)

Yerel katalogda bu makaleye atıf yapan 25 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).

  1. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects 2020 Atıf 84 · OpenAlex
  2. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 2024 Atıf 62 · OpenAlex
  3. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 2024 Atıf 62 · OpenAlex
  4. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 2021 Atıf 60 · OpenAlex
  5. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 2023 Atıf 57 · OpenAlex
  6. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 2023 Atıf 57 · OpenAlex
  7. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 2023 Atıf 57 · OpenAlex
  8. Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges 2021 Atıf 28 · OpenAlex
  9. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies 2022 Atıf 22 · OpenAlex
  10. Distinct gene-set burden patterns underlie common generalized and focal epilepsies 2021 Atıf 18 · OpenAlex

Yazarlar

  1. Yen-Chen Anne Feng
  2. Daniel P Howrigan
  3. Liam E Abbott
  4. Katherine Tashman
  5. Felecia Cerrato
  6. Tarjinder Singh
  7. Henrike Heyne
  8. Andrea Byrnes
  9. Claire Churchhouse
  10. Nick Watts
  11. Matthew Solomonson
  12. Dennis Lal
  13. Erin L Heinzen
  14. Ryan S Dhindsa
  15. Kate E Stanley
  16. Gianpiero L Cavalleri
  17. Hakon Hakonarson
  18. Ingo Helbig
  19. Roland Krause
  20. Patrick May
  21. Sarah Weckhuysen
  22. Slavé Petrovski
  23. Sitharthan Kamalakaran
  24. Sanjay M Sisodiya
  25. Patrick Cossette
  26. Chris Cotsapas
  27. Jonghe Peter De
  28. Tracy Dixon-Salazar
  29. Renzo Guerrini
  30. Patrick Kwan
  31. Anthony G Marson
  32. Randy Stewart
  33. Chantal Depondt
  34. Dennis J Dlugos
  35. Ingrid E Scheffer
  36. Pasquale Striano
  37. Catharine Freyer
  38. Kevin McKenna
  39. Brigid M Regan
  40. Susannah T Bellows
  41. Costin Leu
  42. Caitlin A Bennett
  43. Esther MC Johns
  44. Alexandra Macdonald
  45. Hannah Shilling
  46. Rosemary Burgess
  47. Dorien Weckhuysen
  48. Melanie Bahlo
  49. Terence J O’Brien
  50. Marian Todaro
  51. Hannah Stamberger
  52. Danielle M Andrade
  53. Tara R Sadoway
  54. Kelly Mo
  55. Heinz Krestel
  56. Sabina Gallati
  57. Savvas S Papacostas
  58. Ioanna Kousiappa
  59. George A Tanteles
  60. Katalin Štěrbová
  61. Markéta Vlčková
  62. Lucie Sedláčková
  63. Petra Laššuthová
  64. Karl Martin Klein
  65. Felix Rosenow
  66. Philipp S Reif
  67. Susanne Knake
  68. Wolfram S Kunz
  69. Gábor Zsurka
  70. Christian E Elger
  71. Jürgen Bauer
  72. Michael Rademacher
  73. Manuela Pendziwiat
  74. Hiltrud Muhle
  75. Annika Rademacher
  76. Baalen Andreas van
  77. Spiczak Sarah von
  78. Ulrich Stephani
  79. Zaid Afawi
  80. Amos D Korczyn
  81. Moien Kanaan
  82. Christina Canavati
  83. Gerhard Kurlemann
  84. Karen Müller-Schlüter
  85. Gerhard Kluger
  86. Martin Häusler
  87. Ilan Blatt
  88. Johannes R Lemke
  89. Ilona Krey
  90. Yvonne G Weber
  91. Stefan Wolking
  92. Felicitas Becker
  93. Christian Hengsbach
  94. Sarah Rau
  95. Ana F Maisch
  96. Bernhard J Steinhoff
  97. Andreas Schulze-Bonhage
  98. Susanne Schubert-Bast
  99. Herbert Schreiber
  100. Ingo Borggräfe
  101. Christoph J Schankin
  102. Thomas Mayer
  103. Rudolf Korinthenberg
  104. Knut Brockmann
  105. Dieter Dennig
  106. Rene Madeleyn
  107. Reetta Kälviäinen
  108. Pia Auvinen
  109. Anni Saarela
  110. Tarja Linnankivi
  111. Anna-Elina Lehesjoki
  112. Mark I Rees
  113. Seo-Kyung Chung
  114. William O Pickrell
  115. Robert Powell
  116. Natascha Schneider
  117. Simona Balestrini
  118. Zagaglia Sara
  119. Braatz Vera
  120. Michael R Johnson
  121. Pauls Auce
  122. Graeme J Sills
  123. Larry W Baum
  124. Pak C Sham
  125. Stacey S Cherny
  126. Colin HT Lui
  127. Barišić Nina
  128. Norman Delanty
  129. Colin P Doherty
  130. Arif Shukralla
  131. Mark McCormack
  132. Hany El-Naggar
  133. Laura Canafoglia
  134. Silvana Franceschetti
  135. Barbara Castellotti
  136. Tiziana Granata
  137. Federico Zara
  138. Michele Iacomino
  139. Francesca Madia
  140. Maria Stella Vari
  141. Maria Margherita Mancardi
  142. Vincenzo Salpietro
  143. Francesca Bisulli
  144. Paolo Tinuper
  145. Laura Licchetta
  146. Tommaso Pippucci
  147. Carlotta Stipa
  148. Raffaella Minardi
  149. Antonio Gambardella
  150. Angelo Labate
  151. Grazia Annesi
  152. Lorella Manna
  153. Monica Gagliardi
  154. Elena Parrini
  155. Davide Mei
  156. Annalisa Vetro
  157. Claudia Bianchini
  158. Montomoli Martino
  159. Viola Doccini
  160. Carla Marini
  161. Toshimitsu Suzuki
  162. Yushi Inoue
  163. Kazuhiro Yamakawa
  164. Birute Tumiene
  165. Lynette G Sadleir
  166. Chontelle King
  167. Emily Mountier
  168. SERVER HANDE ÇAĞLAYAN
  169. MUTLUAY ARSLAN
  170. ZUHAL YAPICI
  171. ULUÇ YİŞ DOKUZ EYLÜL ÜNİVERSİTESİ
  172. Pınar Topaloglu
  173. Bulent Kara
  174. Dilsad Turkdogan
  175. Aslı Gundogdu-Eken
  176. NERSES BEBEK İSTANBUL ÜNİVERSİTESİ
  177. Sibel Uğur-İşeri
  178. Betül Baykan
  179. Barış Salman
  180. Garen Haryanyan
  181. Emrah Yücesan
  182. Yeşim Kesim
  183. ÇİĞDEM ÖZKARA İSTANBUL ÜNİVERSİTESİ-CERRAHPAŞA
  184. Annapurna Poduri
  185. Beth R Shiedley
  186. Catherine Shain
  187. Russell J Buono
  188. Thomas N Ferraro
  189. Michael R Sperling
  190. Warren Lo
  191. Michael Privitera
  192. Jacqueline A French
  193. Steven Schachter
  194. Ruben I Kuzniecky
  195. Orrin Devinsky
  196. Manu Hegde
  197. Pouya Khankhanian
  198. Katherine L Helbig
  199. Colin A Ellis
  200. Gianfranco Spalletta
  201. Fabrizio Piras
  202. Federica Piras
  203. Tommaso Gili
  204. Valentina Ciullo
  205. Andreas Reif
  206. Andrew McQuillin
  207. Andrew McIntosh
  208. Nick Bass
  209. Douglas Blackwood
  210. Mandy Johnstone
  211. Palotie Aarno
  212. Pato Michele T
  213. Carlos N Pato
  214. Evelyn J Bromet
  215. Celia Barreto Carvalho
  216. Eric D Achtyes
  217. Maria Helena Azevedo
  218. Roman Kotov
  219. Douglas S Lehrer
  220. Dolores Malaspina
  221. Stephen R Marder
  222. Helena Medeiros
  223. Christopher P Morley
  224. Diana O Perkins
  225. Janet L Sobell
  226. Buckley Peter F
  227. Fabio Macciardi
  228. James A Knowles
  229. Mark H Rapaport
  230. Ayman H Fanous
  231. Steven A McCarroll
  232. Namrata Gupta
  233. Stacey B Gabriel
  234. Mark J Daly
  235. Lander Eric S
  236. Lowenstein Daniel H
  237. David B Goldstein
  238. Holger Lerche
  239. Samuel F Berkovic
  240. Neale Benjamin M
  241. BÜLENT KARA KOCAELİ ÜNİVERSİTESİ