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For: Ankala A, da Silva C, Gualandi F, Ferlini A, Bean LJ, Collins C, Tanner AK, Hegde MR. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol 2015;77:206-14. [PMID: 25380242 DOI: 10.1002/ana.24303] [Cited by in Crossref: 104] [Cited by in F6Publishing: 99] [Article Influence: 13.0] [Reference Citation Analysis]
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4 Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. J Neuromuscul Dis 2019;6:241-58. [PMID: 31127727 DOI: 10.3233/JND-180376] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
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6 Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W. Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. J Neuromuscul Dis 2017;4:315-25. [PMID: 29172004 DOI: 10.3233/JND-170231] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
7 Vita GL, Vita G. Is it the right time for an infant screening for Duchenne muscular dystrophy? Neurol Sci 2020;41:1677-83. [PMID: 32112218 DOI: 10.1007/s10072-020-04307-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
8 Shademan B, Biray Avci C, Nikanfar M, Nourazarian A. Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges. Neuromolecular Med 2021;23:225-35. [PMID: 32399804 DOI: 10.1007/s12017-020-08601-7] [Reference Citation Analysis]
9 Wicklund MP. The Limb-Girdle Muscular Dystrophies. Continuum (Minneap Minn) 2019;25:1599-618. [PMID: 31794462 DOI: 10.1212/CON.0000000000000809] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
10 Dunn P, Albury CL, Maksemous N, Benton MC, Sutherland HG, Smith RA, Haupt LM, Griffiths LR. Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes. Front Genet 2018;9:20. [PMID: 29467791 DOI: 10.3389/fgene.2018.00020] [Cited by in Crossref: 43] [Cited by in F6Publishing: 34] [Article Influence: 10.8] [Reference Citation Analysis]
11 Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. J Neurol 2018;265:394-401. [PMID: 29260357 DOI: 10.1007/s00415-017-8710-x] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 2.6] [Reference Citation Analysis]
12 Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Han C, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H. Congenital muscular dystrophies in China. Clin Genet 2019;96:207-15. [PMID: 31066047 DOI: 10.1111/cge.13560] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
13 Barp A, Mosca L, Sansone VA. Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders. Diagnostics (Basel) 2021;11:701. [PMID: 33919863 DOI: 10.3390/diagnostics11040701] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 2017;62:243-52. [PMID: 27708273 DOI: 10.1038/jhg.2016.116] [Cited by in Crossref: 43] [Cited by in F6Publishing: 36] [Article Influence: 7.2] [Reference Citation Analysis]
15 Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol 2016;29:621-7. [PMID: 27454578 DOI: 10.1097/WCO.0000000000000371] [Cited by in Crossref: 28] [Cited by in F6Publishing: 18] [Article Influence: 7.0] [Reference Citation Analysis]
16 Evilä A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscular Disorders 2016;26:7-15. [DOI: 10.1016/j.nmd.2015.10.003] [Cited by in Crossref: 61] [Cited by in F6Publishing: 59] [Article Influence: 10.2] [Reference Citation Analysis]
17 Ghaoui R, Needham M; Royal Adelaide Hospital, Australia. Investigation of hereditary muscle disorders in the genomic era. ACNR 2020;19:17-20. [DOI: 10.47795/ayyz8676] [Reference Citation Analysis]
18 Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM. Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. BMC Med Genet 2016;17:25. [PMID: 27005958 DOI: 10.1186/s12881-016-0288-0] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
19 Péladeau C, Sandhu JK. Aberrant NLRP3 Inflammasome Activation Ignites the Fire of Inflammation in Neuromuscular Diseases. Int J Mol Sci 2021;22:6068. [PMID: 34199845 DOI: 10.3390/ijms22116068] [Reference Citation Analysis]
20 Li D, Tian L, Hakonarson H. Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. Ann Transl Med 2018;6:126. [PMID: 29955586 DOI: 10.21037/atm.2018.01.14] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
21 Fay AJ. Neuromuscular Diseases of the Newborn. Semin Pediatr Neurol 2019;32:100771. [PMID: 31813523 DOI: 10.1016/j.spen.2019.08.007] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
22 Barbosa-gouveia S, Vázquez-mosquera ME, González-vioque E, Hermida-ameijeiras Á, Sánchez-pintos P, de Castro MJ, León SR, Gil-fournier B, Domínguez-gonzález C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. JCM 2022;11:2750. [DOI: 10.3390/jcm11102750] [Reference Citation Analysis]
23 Dhamija R, Chambers C. Diagnostic NGS for Severe Neuromuscular Disorders. Pediatr Neurol Briefs 2015;29:82. [PMID: 26933539 DOI: 10.15844/pedneurbriefs-29-11-1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
24 Park J, Oh HM, Park HJ, Cho AR, Lee DW, Jang JH, Jang DH. Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients. Mol Genet Genomic Med 2019;7:e00947. [PMID: 31475473 DOI: 10.1002/mgg3.947] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
25 Mak TSH, Lee YK, Tang CS, Hai JSH, Ran X, Sham PC, Tse HF. Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. Sci Rep 2018;8:10846. [PMID: 30022097 DOI: 10.1038/s41598-018-29263-3] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 3.5] [Reference Citation Analysis]
26 Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, Machado JC, Medeiros E, Coelho T, Santos M, Santos R, Sousa M. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet 2016;61:497-505. [PMID: 26841830 DOI: 10.1038/jhg.2016.2] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
27 Wu L, Brady L, Shoffner J, Tarnopolsky MA. Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. Can J Neurol Sci 2018;45:262-8. [DOI: 10.1017/cjn.2017.286] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 3.5] [Reference Citation Analysis]
28 Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatr 2017;171:855-62. [PMID: 28759686 DOI: 10.1001/jamapediatrics.2017.1755] [Cited by in Crossref: 155] [Cited by in F6Publishing: 133] [Article Influence: 31.0] [Reference Citation Analysis]
29 Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG; Genotype-Tissue Expression Consortium. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 2017;9:eaal5209. [PMID: 28424332 DOI: 10.1126/scitranslmed.aal5209] [Cited by in Crossref: 277] [Cited by in F6Publishing: 248] [Article Influence: 55.4] [Reference Citation Analysis]
30 Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat 2018;39:1284-98. [PMID: 29858556 DOI: 10.1002/humu.23560] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 5.0] [Reference Citation Analysis]
31 Dastur RS, Gaitonde PS, Kachwala M, Nallamilli BRR, Ankala A, Khadilkar SV, Atchayaram N, Gayathri N, Meena AK, Rufibach L, Shira S, Hegde M. Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis. Ann Indian Acad Neurol 2017;20:302-8. [PMID: 28904466 DOI: 10.4103/aian.AIAN_129_17] [Cited by in F6Publishing: 4] [Reference Citation Analysis]
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33 Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD. The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management. Appl Clin Genet 2015;8:235-43. [PMID: 26527893 DOI: 10.2147/TACG.S69969] [Cited by in Crossref: 4] [Cited by in F6Publishing: 19] [Article Influence: 0.6] [Reference Citation Analysis]
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35 Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ, Ashwood ER, Bale S, Benirschke R, Carlow D, Funke BH, Grody WW, Hayden RT, Hegde M, Lyon E, Murata K, Pessin M, Press RD, Thomson RB. The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care. Acad Pathol 2017;4:2374289517708309. [PMID: 28815200 DOI: 10.1177/2374289517708309] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
36 Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. Curr Neurol Neurosci Rep 2015;15:64. [PMID: 26289954 DOI: 10.1007/s11910-015-0584-7] [Cited by in Crossref: 22] [Cited by in F6Publishing: 17] [Article Influence: 3.7] [Reference Citation Analysis]
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38 Biancalana V, Laporte J. Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis. J Neuromuscul Dis 2015;2:193-203. [PMID: 27858740 DOI: 10.3233/JND-150092] [Cited by in Crossref: 14] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
39 Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis 2020;15:11. [PMID: 31931849 DOI: 10.1186/s13023-019-1291-2] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
40 Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Cold Spring Harb Mol Case Stud 2020;6:a003970. [PMID: 32358097 DOI: 10.1101/mcs.a003970] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
41 Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. J Neuromuscul Dis 2019;6:475-83. [PMID: 31498126 DOI: 10.3233/JND-190414] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
42 Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S. Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. Neurol Genet 2020;6:e408. [PMID: 32337335 DOI: 10.1212/NXG.0000000000000408] [Cited by in Crossref: 7] [Cited by in F6Publishing: 2] [Article Influence: 3.5] [Reference Citation Analysis]
43 Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr 2017;171:863-71. [PMID: 28759667 DOI: 10.1001/jamapediatrics.2017.1743] [Cited by in Crossref: 81] [Cited by in F6Publishing: 65] [Article Influence: 16.2] [Reference Citation Analysis]
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47 Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, Horvath R, Lochmüller H. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol 2020;19:522-32. [PMID: 32470424 DOI: 10.1016/S1474-4422(20)30028-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 7.0] [Reference Citation Analysis]
48 Yamputchong P, Pho-Iam T, Limwongse C, Wattanasirichaigoon D, Sanmaneechai O. Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD). Neuromuscul Disord 2020;30:839-44. [PMID: 32962870 DOI: 10.1016/j.nmd.2020.09.003] [Reference Citation Analysis]
49 Kuhn M, Gläser D, Joshi PR, Zierz S, Wenninger S, Schoser B, Deschauer M. Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. J Neurol 2016;263:743-50. [PMID: 26886200 DOI: 10.1007/s00415-016-8036-0] [Cited by in Crossref: 34] [Cited by in F6Publishing: 31] [Article Influence: 5.7] [Reference Citation Analysis]
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51 Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. Genet Med 2017;19:77-82. [DOI: 10.1038/gim.2016.67] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 3.3] [Reference Citation Analysis]
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53 Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu P, Lv H, Zhang W, Yuan Y, Wang Z. Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. PLoS One 2017;12:e0175343. [PMID: 28403181 DOI: 10.1371/journal.pone.0175343] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 6.2] [Reference Citation Analysis]
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