Works by Delanne, Julian

Results: 16

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111

By:

Hengel, Holger;
Hannan, Shabab B;
Reich, Selina;
Beijer, Danique;
Roller, Johanna;
Gilsbach, Bernd K;
Gloeckner, Christian Johannes;
Greene, Daniel;
Timmann, Dagmar;
Depienne, Christel;
Mumford, Andrew;
O'Driscoll, Mary;
Nemeth, Andrea H;
Lundberg, Julie;
Rodan, Lance H;
Bruel, Ange-Line;
Delanne, Julian;
Deconinck, Tine;
Baets, Jonathan;
Gan-Or, Ziv

Publication type:

Article

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 10, p. 1179, doi. 10.1002/pd.6623

By:

Thauvin‐Robinet, Christel;
Garde, Aurore;
Delanne, Julian;
Racine, Caroline;
Rousseau, Thierry;
Simon, Emmanuel;
François, Michel;
Moutton, Sebastien;
Sylvie, Odent;
Quelin, Chloe;
Morel, Godelieve;
Goldenberg, Alice;
Guerrot, Anne‐Marie;
Vera, Gabriella;
Gruchy, Nicolas;
Colson, Cindy;
Boute, Odile;
Abel, Carine;
Putoux, Audrey;
Amiel, Jeanne

Publication type:

Article

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 352, doi. 10.1002/pd.6519

By:

Favier, Maud;
Delanne, Julian;
Gorincour, Guillaume;
Faivre, Laurence;
Racine, Caroline;
Philippe, Christophe;
Duffourd, Yannis;
Vitobello, Antonio;
Rousseau, Thierry;
Martz, Olivia;
Tarris, Georges;
Oualiken, Camélia;
Thauvin‐Robinet, Christel;
Mau‐Them, Frédéric Tran

Publication type:

Article

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

Published in:

Ultrasound in Obstetrics & Gynecology, 2022, v. 59, n. 4, p. 532, doi. 10.1002/uog.23715

By:

Bourgon, N.;
Carmignac, V.;
Sorlin, A.;
Duffourd, Y.;
Philippe, C.;
Thauvin‐Robinet, C.;
Guibaud, L.;
Faivre, L.;
Vabres, P.;
Kuentz, P.;
Tisserand, Emilie;
Chevarin, Martin;
Delanne, Julian;
Jouan, Thibaud;
Pöe, Charlotte;
Abel, Carine;
Allory, Patrick;
Amram, Daniel;
Attie‐Bitach, Tania;
Aziza, Jacqueline

Publication type:

Article

Identification of <italic>PITX3</italic> mutations in individuals with various ocular developmental defects.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 3, p. 314, doi. 10.1080/13816810.2018.1430243

By:

Zazo Seco, Celia;
Plaisancié, Julie;
Lupasco, Tatiana;
Michot, Caroline;
Pechmeja, Jacmine;
Delanne, Julian;
Cottereau, Edouard;
Ayuso, Carmen;
Corton, Marta;
Calvas, Patrick;
Ragge, Nicola;
Chassaing, Nicolas

Publication type:

Article

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1122985

By:

Tran Mau-Them, Frédéric;
Overs, Alexis;
Bruel, Ange-Line;
Duquet, Romain;
Thareau, Mylene;
Denommé-Pichon, Anne-Sophie;
Vitobello, Antonio;
Sorlin, Arthur;
Safraou, Hana;
Nambot, Sophie;
Delanne, Julian;
Moutton, Sebastien;
Racine, Caroline;
Engel, Camille;
De Giraud d'Agay, Melchior;
Lehalle, Daphne;
Goldenberg, Alice;
Willems, Marjolaine;
Coubes, Christine;
Genevieve, David

Publication type:

Article

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995

By:

Mau-Them, Frédéric Tran;
Delanne, Julian;
Denommé-Pichon, Anne-Sophie;
Safraou, Hana;
Bruel, Ange-Line;
Vitobello, Antonio;
Garde, Aurore;
Nambot, Sophie;
Bourgon, Nicolas;
Racine, Caroline;
Sorlin, Arthur;
Moutton, Sébastien;
Marle, Nathalie;
Rousseau, Thierry;
Sagot, Paul;
Simon, Emmanuel;
Vincent-Delorme, Catherine;
Boute, Odile;
Colson, Cindy;
Petit, Florence

Publication type:

Article

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1836

By:

Tran Mau‐Them, Frederic;
Duffourd, Yannis;
Vitobello, Antonio;
Bruel, Ange‐Line;
Denommé‐Pichon, Anne‐Sophie;
Nambot, Sophie;
Delanne, Julian;
Moutton, Sebastien;
Sorlin, Arthur;
Couturier, Victor;
Bourgeois, Valentin;
Chevarin, Martin;
Poe, Charlotte;
Mosca‐Boidron, Anne‐Laure;
Callier, Patrick;
Safraou, Hana;
Faivre, Laurence;
Philippe, Christophe;
Thauvin‐Robinet, Christel

Publication type:

Article

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.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 4, p. 171, doi. 10.1111/ahg.12459

By:

Tisserant, Emilie;
Vitobello, Antonio;
Callegarin, Davide;
Verdez, Simon;
Bruel, Ange‐line;
Aho Glele, Ludwig Serge;
Sorlin, Arthur;
Viora‐Dupont, Eleonore;
Konyukh, Marina;
Marle, Nathalie;
Nambot, Sophie;
Moutton, Sébastien;
Racine, Caroline;
Garde, Aurore;
Delanne, Julian;
Tran‐Mau‐Them, Frédéric;
Philippe, Christophe;
Kuentz, Paul;
Poulleau, Marlène;
Payet, Muriel

Publication type:

Article

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.

Published in:

Human Genetics, 2020, v. 139, n. 11, p. 1381, doi. 10.1007/s00439-020-02178-8

By:

Tran Mau-Them, Frederic;
Moutton, Sebastien;
Racine, Caroline;
Vitobello, Antonio;
Bruel, Ange-Line;
Nambot, Sophie;
Kushner, Steven A.;
de Vrij, Femke M. S.;
Lehalle, Daphné;
Jean-Marçais, Nolwenn;
Lecoquierre, François;
Delanne, Julian;
Thevenon, Julien;
Poe, Charlotte;
Jouan, Thibaut;
Chevarin, Martin;
Geneviève, David;
Willems, Marjolaine;
Coubes, Christine;
Houcinat, Nada

Publication type:

Article

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970

By:

Mazel, Benoit;
Delanne, Julian;
Garde, Aurore;
Racine, Caroline;
Bruel, Ange‐Line;
Duffourd, Yannis;
Lopergolo, Diego;
Santorelli, Filippo Maria;
Marchi, Viviana;
Pinto, Anna Maria;
Mencarelli, Maria Antonietta;
Canitano, Roberto;
Valentino, Floriana;
Papa, Filomena Tiziana;
Fallerini, Chiara;
Mari, Francesca;
Renieri, Alessandra;
Munnich, Arnold;
Niclass, Tanguy;
Le Guyader, Gwenaël

Publication type:

Article

Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 328, doi. 10.1111/cge.14646

By:

Sjøstrøm, Emilie;
Bruel, Ange‐Line;
Philippe, Christophe;
Delanne, Julian;
Faivre, Laurence;
Menke, Leonie A.;
Au, P. Y. Billie;
Cormick, Jessica Jane;
Moosa, Shahida;
Bayat, Allan

Publication type:

Article

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 555, doi. 10.1111/cge.14485

By:

Malbos, Marlène;
Wakeling, Emma;
Gautier, Thierry;
Boespflug‐Tanguy, Odile;
Busby, Louise;
Taylor‐Miller, Tashunka;
Dudoignon, Benjamin;
Bokov, Plamen;
Govin, Jérôme;
Grisval, Margot;
Rega, Adélaïde;
Mourot De Rougemont, Marie‐Gabrielle;
Aubriot‐Lorton, Marie‐Hélène;
Darmency, Véronique;
Bensignor, Candace;
Houzel, Anne;
Huet, Frédéric;
Denommé‐Pichon, Anne‐Sophie;
Delanne, Julian;
Tran Mau‐Them, Frédéric

Publication type:

Article

Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 433, doi. 10.1111/cge.13764

By:

Bruel, Ange‐Line;
Vitobello, Antonio;
Tran Mau‐Them, Frédéric;
Nambot, Sophie;
Sorlin, Arthur;
Denommé‐Pichon, Anne‐Sophie;
Delanne, Julian;
Moutton, Sébastien;
Callier, Patrick;
Duffourd, Yannis;
Philippe, Christophe;
Faivre, Laurence;
Thauvin‐Robinet, Christel

Publication type:

Article

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 792, doi. 10.1002/ajmg.a.61487

By:

Assoum, Mirna;
Bruel, Ange‐Line;
Crenshaw, Melissa L.;
Delanne, Julian;
Wentzensen, Ingrid M.;
McWalter, Kirsty;
Dent, Karin M.;
Vitobello, Antonio;
Kuentz, Paul;
Thevenon, Julien;
Duffourd, Yannis;
Thauvin‐Robinet, Christel;
Faivre, Laurence

Publication type:

Article

Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273

By:

Lehalle, Daphné;
Colombo, Roberto;
O'Grady, Michael;
Héron, Bénédicte;
Houcinat, Nada;
Kuentz, Paul;
Moutton, Sebastien;
Sorlin, Arthur;
Thevenon, Julien;
Delanne, Julian;
Gay, Sebastien;
Racine, Caroline;
Garde, Aurore;
Tran Mau‐Them, Frédéric;
Philippe, Christophe;
Vitobello, Antonio;
Nambot, Sophie;
Huet, Frédéric;
Duffourd, Yannis;
Feillet, François

Publication type:

Article