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Sharon Suchy

GeneDx

25

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653

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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

2019 Genetics in Medicine
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TANGO2 : expanding the clinical phenotype and spectrum of pathogenic variants

2019 Genetics in Medicine
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Correction to: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2018), 10.1038/s41436-018-0137-y)

2018 Genetics in Medicine
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018 bioRxiv
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018 PLOS Genetics
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Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

2018 American Journal of Human Genetics
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Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]

2017 Molecular genetics and metabolism reports
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Genotype-Phenotype Relationships in Peripheral Neuropathies: Challenging the ‘Status Quo’ (P5.019)

2016 Neurology
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Clinical application of whole-exome sequencing across clinical indications

2016 Genetics in Medicine
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Evaluating the Diagnostic Yield of a Multi-Gene Panel for Charcot-Marie-Tooth and Related Neuropathies (P2.032)

2015 Neurology
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