Yvan Herenger

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

A. Afenjar, A. Boland, J. Deleuze, 2022, Frontiers in Cell and Developmental Biology.

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

M. Schiff, J. Bouchereau, Yvan Herenger, 2019, Molecular genetics and metabolism reports.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

AnnotSV: an integrated tool for structural variations annotation

Véronique Geoffroy, Amélie Piton, Corinne Stoetzel, 2018, Bioinform..

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

A. Reymond, A. Pagnamenta, S. Knight, 2020, bioRxiv.

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

M. Manière, H. Dollfus, J. Clavert, 2015, European journal of medical genetics.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.