Nigel G. Laing
0000-0001-5111-3732
Publication & Citation Trends
Publications
0 total
Missense variants in TUBA4A cause myo-tubulinopathies.
Cited by 0
Semantic Scholar
Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias
Cited by 0
Semantic Scholar
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Cited by 0
Semantic Scholar
Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22‐p24 HSN1B Locus
Cited by 0
Semantic Scholar
Monoallelic POLR3A variants cause a Pol III-related disorder characterized by peripheral neuropathy
Cited by 0
Semantic Scholar
Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis OA
Cited by 1
Semantic Scholar
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Cited by 2
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(269)
Cardiomyopathy and Myosin Studies
(266)
Neurogenetic and Muscular Disorders Research
(142)
Genetic Neurodegenerative Diseases
(98)
Genomics and Rare Diseases
(47)
Affiliations
MACOM (United States)
Mayo Clinic
University of Helsinki
Inserm
University of Cape Town