Publications by authors named "Jean Marcais"

Claim this Profile
M
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).
Lucie Menguy, Laurent Hudier, Mohamad Zaidan, Bertrand Knebelmann, John A Sayer, Nolwen Jean-Marcais

Kidney Int· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou

medRxiv· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre

Nat Genet· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat

J Med Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar

Eur J Hum Genet· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, Frederic Tran Mau-Them, Ange-Line Bruel

J Med Genet· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Deep denitrification: Stream and groundwater biogeochemistry reveal contrasted but connected worlds above and below.
Emilee Severe, Isabella M Errigo, Mary Proteau, Sayedeh Sara Sayedi, Tamara Kolbe

Sci Total Environ· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti

Genet Med· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel

Front Cell Dev Biol· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them

Eur J Hum Genet· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A hillslope-scale aquifer-model to determine past agricultural legacy and future nitrate concentrations in rivers.
Luca Guillaumot, Jean Marçais, Camille Vautier, Aurélie Guillou, Virginie Vergnaud

Sci Total Environ· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Nolwenn Jean-Marcais

Mol Genet Metab Rep· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
What do we need to predict groundwater nitrate recovery trajectories?
Camille Vautier, Tamara Kolbe, Tristan Babey, Jean Marçais, Benjamin W Abbott

Sci Total Environ· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd

J Med Genet· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Frederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, Antonio Vitobello, Ange-Line Bruel

Hum Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Aurélien Juven, Sophie Nambot, Amélie Piton, Nolwenn Jean-Marçais, Alice Masurel

Eur J Hum Genet· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, François Lecoquierre

J Med Genet· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
Evgeny Z Kvon, Yiwen Zhu, Guy Kelman, Catherine S Novak, Ingrid Plajzer-Frick

Cell· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Z
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor

Am J Hum Genet· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
R Martin, M Splitt, D Genevieve, E Aten, A Collins

Eur J Hum Genet· November 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Ange-Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thevenon

Eur J Hum Genet· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Christel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, Julian Delanne, Paul Kuentz

Eur J Hum Genet· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Aline Chassagne, Aurore Pélissier, Françoise Houdayer, Elodie Cretin, Elodie Gautier

Eur J Hum Genet· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Z
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor

Am J Hum Genet· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Stratification of reactivity determines nitrate removal in groundwater.
Tamara Kolbe, Jean-Raynald de Dreuzy, Benjamin W Abbott, Luc Aquilina, Tristan Babey

Proc Natl Acad Sci U S A· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis