C. Vincent-Delorme

发表

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

N. Katsanis, P. Calvas, N. Chassaing, 2016, Genome research.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

J. Mosser, A. Toutain, N. Philip, 2011, European journal of medical genetics.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

C. Aloui, A. Leutenegger, A. Gelot, 2022, Prenatal diagnosis.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Tzung-Chien Hsieh, K. Chrzanowska, C. Philippe, 2023, Human genetics.

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*

E. Karam, H. Mandel, S. Berkovic, 2013, The Journal of Biological Chemistry.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

New intragenic rearrangements in non‐Finnish mulibrey nanism

C. Vincent‐Delorme, J. Rochette, M. Mathieu-Dramard, 2017, American journal of medical genetics. Part A.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.