A. Briand-Suleau

发表

E. Pasmant, M. Vidaud, I. Laurendeau, 2019, Genes.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

S. Lyonnet, A. Briand-Suleau, J. Amiel, 2013, Human molecular genetics.

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

A. Benachi, A. Briand-Suleau, L. Tosca, 2015, European journal of medical genetics.

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

E. Pasmant, M. Vidaud, D. Vidaud, 2018, Neuro-oncology.

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

E. Pasmant, M. Vidaud, I. Laurendeau, 2022, Human Genetics.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

SALL 4 and NFATC 2 : two major actors of interstitial 20 q 13 . 2 duplication

A. Briand-Suleau, L. Tosca, J. Martinovic, 2017 .

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

J. Vermeesch, A. Benachi, A. Briand-Suleau, 2014, European journal of medical genetics.

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

H. Cavé, M. Vidaud, A. Verloes, 2016, Orphanet Journal of Rare Diseases.

NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation

P. Varlet, L. Guerrini-Rousseau, J. Grill, 2019, Neuro-oncology advances.

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

Z. Sedlacek, A. Briand-Suleau, L. Tosca, 2014, Molecular Cytogenetics.

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.

Jacques Young, A. Briand-Suleau, L. Tosca, 2012, Human reproduction.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

E. Pasmant, M. Vidaud, I. Laurendeau, 2014, European Journal of Human Genetics.

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders

F. Giuliano, S. Amselem, A. Briand-Suleau, 2021, Molecular Psychiatry.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.

Jacques Young, A. Briand-Suleau, L. Tosca, 2012, Reproductive biomedicine online.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

P. Bénit, A. Mégarbané, P. Rustin, 2013, Human molecular genetics.

Sub1 and Maf1, Two Effectors of RNA Polymerase III, Are Involved in the Yeast Quiescence Cycle

J. Acker, A. Briand-Suleau, M. Vandamme, 2014, PloS one.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

A. Afenjar, P. Billuart, A. Briand-Suleau, 2017, European Journal of Human Genetics.

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

A. Verloes, A. Briand-Suleau, L. Tosca, 2015, European journal of medical genetics.

FSHD1 and FSHD2 form a disease continuum

F. Chapon, E. Pegoraro, A. Briand-Suleau, 2019, Neurology.

Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors

E. Pasmant, I. Laurendeau, D. Vidaud, 2017, Genes, chromosomes & cancer.

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.

Jacques Young, A. Briand-Suleau, L. Tosca, 2012, Human reproduction.

Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions.

M. Blok, E. Pasmant, I. Laurendeau, 2023, The Journal of molecular diagnostics : JMD.

Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients.

E. Pasmant, I. Laurendeau, J. Deleuze, 2023, The British journal of dermatology.