Publications by authors named "Patrick Callier"

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

Cell· December 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Patrick Callier

J Clin Invest· November 2025

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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich, Patrick Callier

Am J Med Genet A· November 2025

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Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.
Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Sophie Nambot, Estelle Colin, Patrick Callier

Mol Autism· October 2025

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Somatic cell reprogramming from different origins and donors into iPSC, with four factors OSKM using viral Sendai vectors.
Romain Desprat, Mikael Magnano, Paul Bensadoun, Mathis Soubeyrand, Patrick Callier

Stem Cell Res· August 2025

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Artificial Intelligence and Chromothripsis.
Davide Callegarin, Nada Maaziz, Anne-Laure Mosca, Nathalie Marle, Mélodie Opale, Patrick Callier

Methods Mol Biol· August 2025

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Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Patrick Callier

Clin Genet· September 2024

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

medRxiv· August 2024

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Valrubicin-loaded immunoliposomes for specific vesicle-mediated cell death in the treatment of hematological cancers.
Aleksandra Georgievski, Pierre-Simon Bellaye, Benjamin Tournier, Hélène Choubley, Jean-Paul Pais de Barros, Patrick Callier

Cell Death Dis· May 2024

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Patrick Callier

Am J Hum Genet· December 2023

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Patrick Callier

Am J Hum Genet· May 2023

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Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Patrick Callier

medRxiv· May 2023

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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Patrick Callier

Am J Med Genet A· February 2023

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The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Martin Chevarin, Diana Alcantara, Juliette Albuisson, Marie-Agnès Collonge-Rame, Céline Populaire, Patrick Callier

Oncotarget· February 2023

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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Patrick Callier

Front Cell Dev Biol· February 2023

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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Patrick Callier

Am J Med Genet A· January 2023

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Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Simon Verdez, Quentin Thomas, Philippine Garret, Céline Verstuyft, Emilie Tisserant, Patrick Callier

Pharmacogenomics J· December 2022

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A rigorous genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Patrick Callier

Front Mol Neurosci· October 2022

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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Patrick Callier

Nat Commun· October 2022

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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, Patrick Callier

Front Cell Dev Biol· October 2022

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Detection of relevant pharmacogenetic information through exome sequencing in oncology.
Simon Verdez, Juliette Albuisson, Yannis Duffourd, Romain Boidot, Manon Reda, Patrick Callier

Pharmacogenomics· September 2022

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iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Aurélie Mouka, Brahim Arkoun, Pauline Moison, Loïc Drévillon, Rafika Jarray, Patrick Callier

Sci Rep· August 2022

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Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Patrick Callier

Ann Hum Genet· July 2022

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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Daphné Lehalle, Ange-Line Bruel, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Patrick Callier

Am J Med Genet A· July 2022

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Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study.
Nicolas Wagneur, Patrick Callier, Jean-David Zeitoun, Denise Silber, Remi Sabatier

J Med Internet Res· July 2022

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