Nigel Laing

17PUBLICATIONS
174CO-AUTHORS
Neurology and neuromuscular diseasesCell and nuclear divisionEconomic models and forecastingGenome structure and regulationInfant and child health
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Publications (17)

|Jun 09, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

|Oct 14, 2025
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Bianca R Grosz, Melina Ellis, Shuchi Trivedi

|Apr 16, 2025
Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis.

Deborah Schofield, Evelyn Lee, Jayamala Parmar

|Apr 14, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Joshua S Clayton, Mridul Johari, Rhonda L Taylor

|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

|Jun 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

David Pellerin, Giulia F Del Gobbo, Madeline Couse

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Frequent Collaborators

5 joint publications

Gianina Ravenscroft

5 joint publications

Marina L Kennerson

4 joint publications

Kishore R Kumar

4 joint publications

Igor Stevanovski