日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

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; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Predicting the phenotype of Pompe Disease from features of GAA variants

根据GAA变异特征预测庞贝病表型

Rajamani, Geetanjali; Pillai, Nishitha R; Stafki, Seth A; Karachunski, Peter I; Kang, Peter B

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

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, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome

科凯恩综合征的认知衰退和其他晚期神经系统并发症

Rajamani, Geetanjali; Stafki, Seth A; Daugherty, Audrey L; Mantyh, William G; Littel, Hannah R; Bruels, Christine C; Pacak, Christina A; Robbins, Paul D; Niedernhofer, Laura J; Abiona, Adesoji; Giunti, Paola; Mohammed, Shehla; Laugel, Vincent; Kang, Peter B

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy

青少年发病型肌病中显性终止密码子HNRNPA1变异

Turner, Johnnie; Bruels, Christine C; Daugherty, Audrey L; Estrella, Elicia A; Stafki, Seth; Syeda, Safoora B; Littel, Hannah R; Pais, Lynn; Ganesh, Vijay S; Lidov, Hart G W; Paine, Simon M L; Maddison, Paul; Harrison, Rachel E; Straub, Volker; Ghosh, Partha S; Pacak, Christina A; Kunkel, Louis M; Draper, Isabelle; Topf, Ana; Kang, Peter B

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

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; Perić, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

DTNA 变异会导致轻度显性遗传性肌营养不良症

Andres Nascimento #, Christine C Bruels #, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A Stafki, Lynn S Pais, Vijay S Ganesh, Anne O'Donnell-Luria, Safoora B Syeda, Laura Carrera-García, Jessica Exp

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

MORC2相关疾病谱:与科凯恩综合征的潜在联系

Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

纳米孔长读长测序在肌营养不良症诊断中的能力

Bruels, Christine C; Littel, Hannah R; Daugherty, Audrey L; Stafki, Seth; Estrella, Elicia A; McGaughy, Emily S; Truong, Don; Badalamenti, Jonathan P; Pais, Lynn; Ganesh, Vijay S; O'Donnell-Luria, Anne; Stalker, Heather J; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J L F; van der Maarel, Silvère M; Laine, Regina; Ghosh, Partha S; Darras, Basil T; Zingariello, Carla D; Pacak, Christina A; Kunkel, Louis M; Kang, Peter B