Giulia F Del Gobbo

3PUBLICATIONS
6CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Free radical chemistry
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Publications (3)

|Feb 03, 2025
The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.

Giulia F Del Gobbo, Kym M Boycott

|Nov 19, 2024
A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Giulia F Del Gobbo, Xueqi Wang, Stella K MacDonald

|Dec 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Giulia F Del Gobbo, Xueqi Wang, Madeline Couse

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Frequent Collaborators

3 joint publications

Kym M Boycott

1 joint publications

Aren E Marshall

1 joint publications

William J Rowell

1 joint publications

Christian R Marshall