M. Lefebvre

发表

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Transplantation Outcome in Recipients Engrafted With Organs Recovered From the First French Deceased Donor With a SARS-COV-2 Vaccine-Induced Thrombotic Thrombocytopenia.

M. Delahousse, F. Conti, A. Hertig, 2021, Transplantation.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series

C. Garel, E. Blondiaux, H. Ducou le Pointe, 2019, Pediatric Radiology.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases

A. Laquérriere, A. Verloes, T. Frebourg, 2016, Prenatal diagnosis.

In mice and humans, brain microvascular contractility matures postnatally

P. Mailly, A. Rancillac, M. Cohen-Salmon, 2022, Brain Structure and Function.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Identification of novel candidate disease genes from de novo exonic copy number variants

Lisa T. Emrick, J. Rosenfeld, P. Stankiewicz, 2017, Genome Medicine.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

J. Thevenon, L. Faivre, S. Blesson, 2022, European Journal of Human Genetics.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

J. Rivière, A. Verloes, J. Thevenon, 2017, Clinical genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

T. Sparks, A. Slavotinek, C. Thauvin, 2021, European journal of medical genetics.

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

F. Lecoquierre, J. Thevenon, A. Telegrafi, 2018, Genetics in Medicine.

Tonate Virus and Fetal Abnormalities, French Guiana, 2019

D. Rousset, L. Pomar, F. Guimiot, 2022, Emerging infectious diseases.

TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery

F. Prefumo, F. Guimiot, G. Tonni, 2018, Fetal and pediatric pathology.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

S. Saunier, C. Bénéteau, C. Jeanpierre, 2022, Human mutation.

Prenatal presentation of Aicardi‐Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis

J. Thevenon, L. Faivre, C. Philippe, 2019, Prenatal diagnosis.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2018, American journal of medical genetics. Part A.