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)

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|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 <i>α</i>-Actin (<i>ACTA1</i>) 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

Gianina Ravenscroft

Marina L Kennerson

Kishore R Kumar

Igor Stevanovski

Ira W Deveson

Bianca R Grosz

Steve Vucic

Melina Ellis

Mark R Davis

Jevin M Parmar

Frequent Collaborators

Gianina Ravenscroft

Marina L Kennerson

Kishore R Kumar

Igor Stevanovski