Andrea Behlmann

A single NGS‐based assay covering the entire genomic sequence of the <i>DMD</i> gene facilitates diagnostic and newborn screening confirmatory testing

Babi Ramesh Reddy Nallamilli, Alka Chaubey, C. Alexander Valencia et al. · Human Mutation · 2021 · 53 citations

Life Sciences, Genetics, Molecular Genetics +17

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Elaine Spector, Andrea Behlmann, Kathryn E. Kronquist et al. · Genetics in Medicine · 2021 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty et al. · Annals of Clinical and Translational Neurology · 2022 · 40 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Gordana Raca, Caroline Astbury, Andrea Behlmann et al. · Genetics in Medicine · 2022 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry et al. · Genetics in Medicine · 2022 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14