E. Lacaze

发表

[Analysis of the anatomical sites of 172 lower-limb venous thromboses occurring in a hormonal context in 996 young women; impact of the duplex-Doppler exploration].

R. Morello, C. Le Hello, M. Barrellier, 2015, Journal des maladies vasculaires.

De novo 15q13.3 microdeletion with cryptogenic west syndrome

J. Andrieux, M. Gérard, G. Plessis, 2013, American journal of medical genetics. Part A.

Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

O. Delattre, N. Sevenet, C. Jeanpierre, 2012, European Journal of Human Genetics.

Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics

T. Frebourg, K. Cassinari, F. Lecoquierre, 2018, Familial Cancer.

Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics

T. Frebourg, K. Cassinari, F. Lecoquierre, 2017, Familial Cancer.

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium

C. Houdayer, T. Frebourg, C. Toulas, 2021, Clinical genetics.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

J. Lemonnier, N. Sevenet, D. Stoppa-Lyonnet, 2021, Cancers.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Zheng Wang, Hong Zhang, C. Clavel, 2023, Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.].

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

J. Thevenon, S. Mercier, L. Faivre, 2023, Frontiers in Genetics.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

E. Colin, J. Thevenon, L. Faivre, 2023, 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.