Concepedia
Statistics
Publications
8
Citations
430
H-Index
Active since
2012
Affiliations
Dalhousie University(Current)
Izaak Walton Killam Health Centre
Inserm
Bambino Gesù Children's Hospital
Children's Health Ireland at Crumlin
Sara MacKay is an author at Dalhousie University specializing in genetics, molecular genetics, and human genetics.
Publications per year
2012–2021
Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization
Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 111 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
D T Burns, Sandra Donkervoort, Juliane Müller et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
Mathilde Nizon, Céline Huber, Fabio De Leonardis et al. · Human Mutation · 2012 · 69 citations · Full text
Medicine, Genetics, Molecular Genetics +17
<i>COL1</i> ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
Silvia Morlino, Lucia Micale, Marco Ritelli et al. · Clinical Genetics · 2019 · 57 citations
Genotype and phenotype spectrum of NRAS germline variants
Franziska Altmüller, Débora Romeo Bertola, Elisabetta Flex et al. · European Journal of Human Genetics · 2017 · 56 citations · Full text
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