Lora J H Bean

3PUBLICATIONS
12CO-AUTHORS
Physical organic chemistryGene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (3)

|Oct 15, 2020
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.

Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari

|Jun 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

Johanna L Schmidt, Amy Pizzino, Jessica Nicholl

|Nov 17, 2019
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Lora J H Bean, Birgit Funke, Colleen M Carlston

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Frequent Collaborators

1 joint publications

Johanna L Schmidt

1 joint publications

Amy Pizzino

1 joint publications

Isabelle Thiffault

1 joint publications

Guy Helman