A. Lavillaureix

发表

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

I. Hertz-Picciotto, M. Oldham, L. Weiss, 2016, PLoS genetics.

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

C. Bearden, L. Weiss, K. Rauen, 2017, PLoS genetics.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

J. Bacchetta, S. Lemoine, Glenville Jones, 2021, Frontiers in Endocrinology.

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

L. Pasquier, M. Fradin, S. Odent, 2022, European Journal of Medical Genetics.

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

A. Afenjar, S. Chantot-Bastaraud, J. Siffroi, 2015, European journal of medical genetics.

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.

J. Siffroi, A. Lavillaureix, C. Hyon, 2015, Reproductive biomedicine online.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders : experience of two clinical units and 216 patients Running title : Medical exome and NDD

C. Depienne, A. Afenjar, D. Cohen, 2017 .

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

C. Flamant, A. Toutain, A. Boland, 2021, European Journal of Human Genetics.

Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.

L. Pasquier, S. Odent, S. Jaillard, 2020, Clinics and research in hepatology and gastroenterology.

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

C. Moreau, L. Pasquier, S. Odent, 2020, Molecular genetics and metabolism reports.

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

W. Carré, L. Pasquier, L. Faivre, 2020, Clinical genetics.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

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.

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly

A. Gelot, S. Chantot-Bastaraud, J. Siffroi, 2017, Clinical genetics.

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

B. D. de Vries, S. Küry, J. Martinez-Agosto, 2023, American journal of medical genetics. Part A.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum.

G. Edan, L. Pasquier, P. Sauleau, 2020, European journal of medical genetics.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.