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Daniel Robyr

University of Geneva

22

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Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.

2020 Journal of Human Genetics
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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

2015 Human Molecular Genetics
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Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

2015 Nature
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

2014 Clinical Genetics
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Domains of genome-wide gene expression dysregulation in Down’s syndrome

2014 Nature
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

2014 Genome Research
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CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS

2013
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A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1

2013 European Journal of Human Genetics
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Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma

2012 Nature Genetics
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Landscape of transcription in human cells

2012 Nature
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