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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

France

Research Interests

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Professors in France Professors in Medical Science Medical Science professors in France

About

Professor Paul Kuentz is a Université-Praticien Hospitalier at the Centre Hospitalier Régional Universitaire de Besançon, France. His research areas include melanocytic embryology, mosaic vascular anomalies, and neurodevelopmental disorders, as evidenced by his recent publications on congenital melanocytic naevi and RASA1 variants. Additionally, he has contributed to guidelines on interpreting constitutional copy number variants and has studied the integration of genomic medicine into France's healthcare system.

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Collaborators (51)

Abderaouf Hamza

Assistant Lecturer

Université Paris Cité

FRANCE

Paul Kuentz

Research Interests

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About

Articles (36)

Peripheral vasomotor symptoms: Expanding the phenotype of GNA11-related capillary malformations.

Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

DNA methylation episignature for White-Sutton syndrome due to POGZ variants

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies.

A late appearance case of TEK-related cutaneomucosal venous malformation treated by Nd:Yag laser

‘McCune–Albright-like’ syndrome associated with a post-zygotic KRAS variant

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome

&lt;i&gt;PFMG2025&lt;/i&gt;-integrating genomic medicine into the national healthcare system in France.

Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies

Biallelic postzygotic RASA1 variants in a germline‐negative patient with capillary malformation‐arteriovenous malformation

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Expanding the Phenotypic Spectrum of SecVAUS: Report of Two Cases.

Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: a new case report

Hepatoblastoma in a patient with neurofibromatosis type 1: A case report

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature

PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

<scp>TELO2</scp> ‐related syndrome ( <scp>You‐Hoover‐Fong</scp> syndrome): Description of 14 new affected individuals and review of the literature

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

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway

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

The Largest Germline Heterozygous Deletion Encompassing Potocki–Shaffer and WAGR Syndromes Loci to Date: A Case Report

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Collaborators (51)

Abderaouf Hamza

Caleb P. Bupp

Laetitia Gouas

Nathalie Eduarda Marie-Jeanne Vanden Eynde

Benjamin Fournier

Sylvie Jaillard

Tania Attié‐Bitach

Agnes Bloch-Zupan

Anne Bergougnoux

Jean Muller

Rana El Masri

Richard Redon

Louise-Marie CHEVALIER

Caroline Rooryck

Lenka Noskova

Quentin Thomas

Eric Pasmant

Dorothy K. Grange

Pierre Vabres

Sarah Baer

Raphael Leman

B. Callewaert

Matthieu Egloff

Pierre Vande Perre

Hélène Cavé

Florence Petit

Patrick Edery

Pierre Blanc

Andree Delahaye-Duriez

Moise Danielpour

Florence de Fraipont

eulalia baselga

David Cheillan

Marie Préau

Catherine Chaussain

Eirik Frengen

Antoine Italiano

<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.