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Laure Raymond

École pratique des hautes études

14

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60

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Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

2021 medRxiv
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The Case | Isolated microscopic hematuria: a diagnostic journey.

2021 Kidney International
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Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

2021 medRxiv
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Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis

2020 JAMA
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Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis.

2020 Clinical Journal of The American Society of Nephrology
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Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features

2020 European Journal of Medical Genetics
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Diagnostic Utility of Exome Sequencing for Kidney Disease.

2019 The New England Journal of Medicine
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Comment on “Trisomy 21 noninvasive prenatal testing for twin pregnancies”

2019 Prenatal Diagnosis
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CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

2018 Human Mutation
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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

2018 BMC Medical Genetics
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