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Gregory Peters

Children's Hospital at Westmead

30

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

2018 Human Mutation
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)

2017
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

2017 Nature Genetics
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Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

2017 Nature Genetics
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

2016 Human Genetics
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A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

2016 American Journal of Medical Genetics Part A
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Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories

2016 Pathology
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Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

2014 PLOS ONE
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Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

2013 Genome Research
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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

2013 European Journal of Human Genetics
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Citations (29)