E. Boudry-Labis

发表

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

I. Simonic, H. Firth, J. Vermeesch, 2013, European journal of medical genetics.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

S. Twigg, A. Wilkie, H. Stewart, 2021, Human mutation.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

B. Delobel, C. Vincent‐Delorme, B. Duban-Bedu, 2018, European Journal of Human Genetics.

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion

G. Tachdjian, J. Andrieux, C. Vincent‐Delorme, 2017, American journal of medical genetics. Part A.

SNP-array lesions in core binding factor acute myeloid leukemia

H. Dombret, G. Leverger, C. Preudhomme, 2018, Oncotarget.

Neurofibromatosis‐1 gene deletions and mutations in de novo adult acute myeloid leukemia

J. Soulier, H. Dombret, C. Preudhomme, 2013, American journal of hematology.

Acute myeloid leukemia with translocation t ( 3 ; 5 ) : new molecular insight by

C. Preudhomme, Aline Renneville, O. Nibourel, 2013 .

Prognosis and monitoring of core-binding factor acute myeloid leukemia: current and emerging factors

C. Preudhomme, C. Willekens, E. Boudry-Labis, 2015, Expert review of hematology.

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

S. Bouquillon, C. Roche-Lestienne, A. Dieux-Coeslier, 2019, neurogenetics.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

B. Delobel, C. Vincent‐Delorme, E. Boudry-Labis, 2018, European Journal of Human Genetics.

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.

F. Escande, J. Andrieux, B. Demeer, 2013, European journal of medical genetics.

Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia

C. Preudhomme, C. Roche-Lestienne, N. Grardel, 2015, Clinical case reports.

Cytogenetics in the management of "chronic myeloid leukemia": an update by the Groupe francophone de cytogénétique hématologique (GFCH).

M. Mozziconacci, C. Roche-Lestienne, E. Boudry-Labis, 2016, Annales de biologie clinique.