Laurence Faivre

Christel Thauvin-Robinet 13 collaborations

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None None 9 collaborations

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Volker Straub 1 collaboration

Ana Töpf 1 collaboration

Anneke J van der Kooi 1 collaboration

Francesca Magrinelli 1 collaboration

Clarissa Rocca 1 collaboration

Michael G Hanna 1 collaboration

Stephan Ossowski 1 collaboration

Steven Laurie 1 collaboration

William Godefroy 1 collaboration

Lionel Faivre 1 collaboration

Caroline Sansac 1 collaboration

Briac Thierry 1 collaboration

Jean-Marc Allain 1 collaboration

Patrick Bruneval 1 collaboration

Rémy Agniel 1 collaboration

Sabrina Kellouche 1 collaboration

Olivier Monasson 1 collaboration

Elisa Peroni 1 collaboration

Mohamed Jarraya 1 collaboration

Niclas Setterblad 1 collaboration

Massymissa Braik 1 collaboration

Benjamin Even 1 collaboration

Sophie Cheverry 1 collaboration

Thomas Domet 1 collaboration

Patricia Albanese 1 collaboration

Jérôme Larghero 1 collaboration

Pierre Cattan 1 collaboration

Lousineh Arakelian 1 collaboration

E Viora-Dupont 1 collaboration

A Denommé-Pichon 1 collaboration

M Chevarin 1 collaboration

O Patat 1 collaboration

M Willems 1 collaboration

N Bourgon 1 collaboration

A Bruel 1 collaboration

M Aubert-Mucca 1 collaboration

M Galinier 1 collaboration

R Itier 1 collaboration

S Decramer 1 collaboration

A Piton 1 collaboration

B Gerard 1 collaboration

C Billon 1 collaboration

X Jeunemaitre 1 collaboration

Y Duffourd 1 collaboration

P Callier 1 collaboration

C Thauvin 1 collaboration

C Philippe 1 collaboration

J Albuisson 1 collaboration

A Vitobello 1 collaboration

Fatimah Albuainain 1 collaboration

Yuwei Shi 1 collaboration

Sarah Lor-Zade 1 collaboration

Ulrike Hüffmeier 1 collaboration

Melissa Pauly 1 collaboration

André Reis 1 collaboration

Frédéric Tran Mau Them 1 collaboration

Ute Grasshoff 1 collaboration

Veronka Horber 1 collaboration

Rachel Schot 1 collaboration

Martina Wilke 1 collaboration

Affiliations

Publications (35)

Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Infective endocarditis without biological inflammatory syndrome: Description of a particular entity.

One

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Familial pulmonary arterial hypertension by

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

A rigorous

Facilitating transcriptional transitions: an overview of chromatin bivalency in plants.

Executive functioning in adolescents and adults with Silver-Russell syndrome.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Loss-of-function variants in

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Development and qualification of clinical grade decellularized and cryopreserved human esophagi.

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.

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