Lora Jh Bean

Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients

Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari et al. · Annals of Clinical and Translational Neurology · 2018 · 181 citations · Full text

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Arunkanth Ankala, Cristina da Silva, Francesca Gualandi et al. · Annals of Neurology · 2014 · 166 citations · Full text

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora Jh Bean, Birgit Funke, Colleen M. Carlston et al. · Genetics in Medicine · 2019 · 152 citations · Full text

Technical Standard, Dna Sequencing, Medicine +11

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Tracy Brandt, Laura M. Sack, Dolores Arjona et al. · Genetics in Medicine · 2019 · 139 citations · Full text

Allelic Variant, Next-generation Sequencing, Genetics +9

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Catherine Rehder, Lora Jh Bean, David Bick et al. · Genetics in Medicine · 2021 · 126 citations

Genetic Testing, Sequencing, Medicine +9