Caroline Schluth‐Bolard

Optical genome mapping enables constitutional chromosomal aberration detection

Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard et al. · The American Journal of Human Genetics · 2021 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville et al. · European Journal of Medical Genetics · 2009 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Caroline Schluth‐Bolard, Audrey Labalme, Marie‐Pierre Cordier et al. · Journal of Medical Genetics · 2013 · 115 citations

Life Sciences, Genetics, Molecular Genetics +17

Replication Timing of Human Telomeres Is Chromosome Arm–Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization

Nausica Arnoult, Caroline Schluth‐Bolard, A Letessier et al. · PLoS Genetics · 2010 · 113 citations · Full text

Life Sciences, Biology, Genetics +14