Publications by authors named "Joris Andrieux"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Joris Andrieux

Cell· December 2025

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Joris Andrieux

medRxiv· August 2024

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Joris Andrieux

Am J Med Genet A· April 2024

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Joris Andrieux

Clin Genet· March 2022

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Elizabeth E Palmer, Renee Carroll, Marie Shaw, Raman Kumar, Andre E Minoche, Joris Andrieux

Am J Hum Genet· December 2020

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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy

J Med Genet· May 2020

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Joris Andrieux

Genet Med· April 2019

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit

Eur J Hum Genet· April 2019

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Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Joris Andrieux

J Med Genet· June 2018

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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Mariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, Jill A Rosenfeld, Florence Petit, Joris Andrieux

Hum Mutat· February 2018

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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher, Joris Andrieux

Eur J Hum Genet· January 2018

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-related intellectual disability syndrome: a recognisable entity.
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Joris Andrieux

J Med Genet· September 2017

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Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux

Am J Med Genet A· August 2017

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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger

Eur J Hum Genet· August 2017

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Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Joris Andrieux

Hum Genet· August 2017

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WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Minh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, Joris Andrieux, Cong Toai Tran

Am J Med Genet A· June 2017

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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Joris Andrieux

Eur J Hum Genet· June 2017

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Michele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Joris Andrieux

Am J Hum Genet· June 2017

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Joris Andrieux

Hum Genet· April 2017

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Joris Andrieux

Hum Genet· April 2017

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Clinical utility gene card for: 16p12.2 microdeletion.
Lucilla Pizzo, Joris Andrieux, David J Amor, Santhosh Girirajan

Eur J Hum Genet· February 2017

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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Nicola Dennert, Hartmut Engels, Kirsten Cremer, Jessica Becker, Eva Wohlleber, Joris Andrieux

Am J Med Genet A· February 2017

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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L Roubertoux, Mehdi Metwaly

Nat Genet· November 2016

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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Keiko Shimojima, Satoshi Narai, Masami Togawa, Tomotsune Doumoto, Noriko Sangu, Joris Andrieux

Eur J Med Genet· October 2016

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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Virpi M Leppa, Stephanie N Kravitz, Christa Lese Martin, Joris Andrieux, Cedric Le Caignec

Am J Hum Genet· September 2016

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