Laura Mary

发表

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

M. Holder-Espinasse, H. Dollfus, C. Stoetzel, 2019, Front. Genet..

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.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

A. Afenjar, B. Gérard, A. Piton, 2021, American journal of medical genetics. Part A.

Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia

E. Tucker, S. Odent, S. Jaillard, 2022, Cytogenetic and Genome Research.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

P. Sonigo, L. Salomon, C. Bénéteau, 2021, Prenatal diagnosis.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

C. Bénéteau, C. Ravel, E. Tucker, 2019, Cytogenetic and Genome Research.

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

S. Odent, S. Jaillard, M. Belaud‐Rotureau, 2021, Cytogenetic and Genome Research.

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects

D. Gilot, S. Jaillard, M. Belaud‐Rotureau, 2022, Human mutation.

Genetic kinship and admixture in Iron Age Scytho-Siberians

V. Semenov, B. Ludes, É. Crubézy, 2019, Human Genetics.

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

B. Gilbert-Dussardier, K. Chennen, O. Poch, 2019, Clinical genetics.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing

S. Dréano, D. Gilot, S. Mazaud-Guittot, 2023, Genes.