Caroline Schluth-Bolard

University of Lyon

France

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Articles (8)

Year:

2021

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2021

Year:

2021

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2021

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2021

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2020

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2020

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2020

Collaborators (5)

Tuomo Mantere

University of Oulu

FINLAND

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Danny Miller

Assistant Professor

University of Washington

UNITED STATES

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laïla el khattabi

Sorbonne Université Faculté de Médecine

FRANCE

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Alexandre Reymond

University of Lausanne

SWITZERLAND

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Daniela Francesca Giachino

Associate Professor of Medical Genetics

University of Turin

ITALY

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Caroline Schluth-Bolard

Research Interests

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Contact this professor

Articles (8)

Alpha satellite insertion close to an ancestral centromeric region.

Optical genome mapping enables constitutional chromosomal aberration detection.

Effects of eight neuropsychiatric copy number variants on human brain structure

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Collaborators (5)

Tuomo Mantere

Danny Miller

laïla el khattabi

Alexandre Reymond

Daniela Francesca Giachino

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