Research map: Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  15. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis · Zhang‐Yu Zou · 2017 · 543 citations · Cited by this paper
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  17. Projected increase in amyotrophic lateral sclerosis from 2015 to 2040 · Karissa C. Arthur · 2016 · 483 citations · Cited by this paper
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  19. Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity · Teepu Siddique · 1991 · 385 citations · Cited by this paper
  20. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing · Elaine Y. Chen · 2023 · 240 citations · Cited by this paper
  21. Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes · Janet Cady · 2014 · 223 citations · Cited by this paper
  22. Familial Amyotrophic Lateral Sclerosis · Khrista Boylan · 2015 · 189 citations · Cited by this paper
  23. Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study · Michael G Benatar · 2022 · 181 citations · Cited by this paper
  24. The Challenge of Genetic Variants of Uncertain Clinical Significance · Wylie Burke · 2022 · 177 citations · Cited by this paper
  25. Tofersen: First Approval · Hannah A. Blair · 2023 · 175 citations · Cited by this paper
  26. C9ORF72: What It Is, What It Does, and Why It Matters · Julie Smeyers · 2021 · 170 citations · Cited by this paper
  27. Proposed criteria for familial amyotrophic lateral sclerosis · Susan Byrne · 2011 · 148 citations · Cited by this paper
  28. Genetic screening in sporadic ALS and FTD · Martin R. Turner · 2017 · 131 citations · Cited by this paper
  29. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis · Stephanie R. Shepheard · 2021 · 121 citations · Cited by this paper
  30. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population · Agnes Lumi Nishimura · 2005 · 112 citations · Cited by this paper
  31. Young-onset amyotrophic lateral sclerosis: historical and other observations · Martin R. Turner · 2012 · 88 citations · Cited by this paper
  32. Clinical Interpretation of Sequence Variants · Junyu Zhang · 2020 · 87 citations · Cited by this paper
  33. Motor neuron pathology in CANVAS due to RFC1 expansions · Vincent Huin · 2021 · 85 citations · Cited by this paper
  34. Presymptomatic ALS genetic counseling and testing · Michael G Benatar · 2016 · 75 citations · Cited by this paper
  35. Genetic testing in ALS · Alice Vajda · 2017 · 74 citations · Cited by this paper
  36. Neuropsychological impairment in amyotrophic lateral sclerosis–frontotemporal spectrum disorder · Sharon Abrahams · 2023 · 71 citations · Cited by this paper
  37. Systematic evaluation of genetic mutations in ALS: a population-based study · Maurizio Grassano · 2022 · 67 citations · Cited by this paper
  38. Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment · Steve Vucic · 2021 · 61 citations · Cited by this paper
  39. Evidence‐based consensus guidelines for ALS genetic testing and counseling · Jennifer Roggenbuck · 2023 · 57 citations · Cited by this paper

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