Works by Bruel, Ange-Line

Results: 47

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

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

Published in:

Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001

By:

Saunier, Chloé;
Støve, Svein Isungset;
Popp, Bernt;
Gérard, Bénédicte;
Blenski, Marina;
AhMew, Nicholas;
Bie, Charlotte;
Goldenberg, Paula;
Isidor, Bertrand;
Keren, Boris;
Leheup, Bruno;
Lampert, Laetitia;
Mignot, Cyril;
Tezcan, Kamer;
Mancini, Grazia M.S.;
Nava, Caroline;
Wasserstein, Melissa;
Bruel, Ange‐Line;
Thevenon, Julien;
Masurel, Alice

Publication type:

Article

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

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06466-1

By:

Ghaffar, Amama;
Akhter, Tehmeena;
Strømme, Petter;
Misceo, Doriana;
Khan, Amjad;
Frengen, Eirik;
Umair, Muhammad;
Isidor, Bertrand;
Cogné, Benjamin;
Khan, Asma A.;
Bruel, Ange-Line;
Sorlin, Arthur;
Kuentz, Paul;
Chiaverini, Christine;
Innes, A. Micheil;
Zech, Michael;
Baláž, Marek;
Havrankova, Petra;
Jech, Robert;
Ahmed, Zubair M.

Publication type:

Article

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Published in:

Nature Communications, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41467-024-54549-8

By:

Zanetti, Andrea;
Dujardin, Gwendal;
Fares-Taie, Lucas;
Amiel, Jeanne;
Roger, Jérôme E.;
Audo, Isabelle;
Robert, Matthieu P.;
David, Pierre;
Jung, Vincent;
Goudin, Nicolas;
Guerrera, Ida Chiara;
Moriceau, Stéphanie;
Amana, Danielle;
Assia Batzir, Nurit;
Bachar-Zipori, Anat;
Basel Salmon, Lina;
Boddaert, Nathalie;
Briault, Sylvain;
Bruel, Ange-Line;
Costet-Fighiera, Christine

Publication type:

Article

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 2981, doi. 10.1093/hmg/ddad124

By:

Liu, Zhigang;
Xin, Baozhong;
Smith, Iris N;
Sency, Valerie;
Szekely, Julia;
Alkelai, Anna;
Shuldiner, Alan;
Efthymiou, Stephanie;
Rajabi, Farrah;
Coury, Stephanie;
Brownstein, Catherine A;
Rudnik-Schöneborn, Sabine;
Bruel, Ange-Line;
Thevenon, Julien;
Zeidler, Shimriet;
Jayakar, Parul;
Schmidt, Axel;
Cremer, Kirsten;
Engels, Hartmut;
Peters, Sophia O

Publication type:

Article

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2822, doi. 10.1093/hmg/ddad109

By:

Bruel, Ange-Line;
Ganga, Anil Kumar;
Nosková, Lenka;
Valenzuela, Irene;
Martinovic, Jelena;
Duffourd, Yannis;
Zikánová, Marie;
Majer, Filip;
Kmoch, Stanislav;
Mohler, Markéta;
Sun, Jingbo;
Sweeney, Lauren K;
Martínez-Gil, Núria;
Thauvin-Robinet, Christel;
Breslow, David K

Publication type:

Article

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 10, p. 1268, doi. 10.1002/pd.6642

By:

Jury, Jeanne;
Joubert, Madeleine;
Le Vaillant, Claudine;
Ghesh, Leïla;
Séguéla, Pierre‐Emmanuel;
Bruel, Ange‐Line;
Cogné, Benjamin;
Nizon, Mathilde

Publication type:

Article

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Published in:

Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154

By:

Alby, Caroline;
Boutaud, Lucile;
Bonnière, Maryse;
Collardeau-Frachon, Sophie;
Guibaud, Laurent;
Lopez, Estelle;
Bruel, Ange-Line;
Aral, Bernard;
Sonigo, Pascale;
Roth, Philippe;
Vibert-Guigue, Claude;
Castaigne, Vanina;
Carbonne, Bruno;
Joye, Nicole;
Faivre, Laurence;
Cordier, Marie-Pierre;
Gelot, Antoinette Bernabe;
Clementi, Maurizio;
Mammi, Isabella;
Vekemans, Michel

Publication type:

Article

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Published in:

Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031

By:

Thauvin-Robinet, Christel;
Lee, Jaclyn S;
Lopez, Estelle;
Herranz-Pérez, Vicente;
Shida, Toshinobu;
Franco, Brunella;
Jego, Laurence;
Ye, Fan;
Pasquier, Laurent;
Loget, Philippe;
Gigot, Nadège;
Aral, Bernard;
Lopes, Carla A M;
St-Onge, Judith;
Bruel, Ange-Line;
Thevenon, Julien;
González-Granero, Susana;
Alby, Caroline;
Munnich, Arnold;
Vekemans, Michel

Publication type:

Article

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188

By:

Ghesh, Leïla;
Besnard, Thomas;
Nizon, Mathilde;
Trochu, Eva;
Landeau‐Trottier, Gaëlle;
Breheret, Flora;
Thauvin‐Robinet, Christel;
Bruel, Ange‐Line;
Kuentz, Paul;
Coubes, Christine;
Cuisset, Laurence;
Mignot, Cyril;
Keren, Boris;
Bézieau, Stéphane;
Cogné, Benjamin

Publication type:

Article

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176

By:

Woerden, Geeske M.;
Bos, Melanie;
Konink, Charlotte;
Distel, Ben;
Avagliano Trezza, Rossella;
Shur, Natasha E.;
Barañano, Kristin;
Mahida, Sonal;
Chassevent, Anna;
Schreiber, Allison;
Erwin, Angelika L.;
Gripp, Karen W.;
Rehman, Fatima;
Brulleman, Saskia;
McCormack, Róisín;
Geus, Gwynna;
Kalsner, Louisa;
Sorlin, Arthur;
Bruel, Ange‐Line;
Koolen, David A.

Publication type:

Article

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2430, doi. 10.1002/humu.23885

By:

Garret, Philippine;
Bris, Céline;
Procaccio, Vincent;
Amati‐Bonneau, Patrizia;
Vabres, Pierre;
Houcinat, Nada;
Tisserant, Emilie;
Feillet, François;
Bruel, Ange‐Line;
Quéré, Virginie;
Philippe, Christophe;
Sorlin, Arthur;
Tran Mau‐Them, Frédéric;
Vitobello, Antonio;
Costa, Jean‐Marc;
Boughalem, Aïcha;
Trost, Detlef;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Duffourd, Yannis

Publication type:

Article

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Published in:

Prenatal Diagnosis, 2015, v. 35, n. 7, p. 675, doi. 10.1002/pd.4591

By:

Lefebvre, Mathilde;
Dufernez, Fabienne;
Bruel, Ange‐Line;
Gonzales, Marie;
Aral, Bernard;
Saint‐Onge, Judith;
Gigot, Nadège;
Desir, Julie;
Daelemans, Caroline;
Jossic, Frédérique;
Schmitt, Sébastien;
Mangione, Raphaele;
Pelluard, Fanny;
Vincent‐Delorme, Catherine;
Labaune, Jean‐Marc;
Bigi, Nicole;
D'Olne, Dominique;
Delezoide, Anne‐Lise;
Toutain, Annick;
Blesson, Sophie

Publication type:

Article

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.852472

By:

Lejeune, Catherine;
Robert-Viard, Charley;
Meunier-Beillard, Nicolas;
Borel, Myriam Alice;
Gourvès, Léna;
Staraci, Stéphanie;
Soilly, Anne-Laure;
Guillemin, Francis;
Seror, Valerie;
Achit, Hamza;
Bouctot, Marion;
Asensio, Marie-Laure;
Briffaut, Anne-Sophie;
Delmas, Christelle;
Bruel, Ange-Line;
Benoit, Alexia;
Simon, Alban;
Gerard, Bénédicte;
Hadj Abdallah, Hamza;
Lyonnet, Stanislas

Publication type:

Article

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349

By:

Duplomb, Laurence;
Droin, Nathalie;
Bouchot, Olivier;
Thauvin-Robinet, Christel;
Bruel, Ange-Line;
Thevenon, Julien;
Callier, Patrick;
Meurice, Guillaume;
Pata-Merci, Noémie;
Loffroy, Romaric;
Vandroux, David;
Costa, Romain D. A.;
Carmignac, Virginie;
Solary, Eric;
Faivre, Laurence

Publication type:

Article

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 497, doi. 10.1093/hmg/ddv488

By:

Chevrier, Véronique;
Bruel, Ange-Line;
Van Dam, Teunis J. P.;
Franco, Brunella;
Lo Scalzo, Melissa;
Lembo, Frédérique;
Audebert, Stéphane;
Baudelet, Emilie;
Isnardon, Daniel;
Bole, Angélique;
Borg, Jean-Paul;
Kuentz, Paul;
Thevenon, Julien;
Burglen, Lydie;
Faivre, Laurence;
Rivière, Jean-Baptiste;
Huynen, Martijn A.;
Birnbaum, Daniel;
Rosnet, Olivier;
Thauvin-Robinet, Christel

Publication type:

Article

DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001

By:

Verberne, Eline A.;
van der Laan, Liselot;
Haghshenas, Sadegheh;
Rooney, Kathleen;
Levy, Michael A.;
Alders, Mariëlle;
Maas, Saskia M.;
Jansen, Sandra;
Lieden, Agne;
Anderlid, Britt-Marie;
Rafael-Croes, Louise;
Campeau, Philippe M.;
Chaudhry, Ayeshah;
Koolen, David A.;
Pfundt, Rolph;
Hurst, Anna C. E.;
Tran-Mau-Them, Frederic;
Bruel, Ange-Line;
Lambert, Laetitia;
Isidor, Bertrand

Publication type:

Article

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Published in:

Journal of Neurology, 2024, v. 271, n. 9, p. 6343, doi. 10.1007/s00415-024-12565-0

By:

Hamamie-Chaar, Angélique;
Renaud, Mathilde;
Gençpinar, Pinar;
Bruel, Ange-Line;
Philippe, Christophe;
Maraval, Julien;
Racine, Caroline;
Hadouiri, Nawale;
Lambert, Laetitia;
Schmitt, Emmanuelle;
Banneau, Guillaume;
Hocquel, Armand;
Thauvin-Robinet, Christel;
Faivre, Laurence;
Thomas, Quentin

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

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Published in:

2021

By:

Hüffmeier, Ulrike;
Kraus, Cornelia;
Reuter, Miriam S.;
Uebe, Steffen;
Abbott, Mary-Alice;
Ahmed, Syed A.;
Rawson, Kristyn L.;
Barr, Eileen;
Li, Hong;
Bruel, Ange-Line;
Faivre, Laurence;
Tran Mau-Them, Frédéric;
Botti, Christina;
Brooks, Susan;
Burns, Kaitlyn;
Ward, D. Isum;
Dutra-Clarke, Marina;
Martinez-Agosto, Julian A.;
Lee, Hane;
Nelson, Stanley F.

Publication type:

journal article

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Published in:

PLoS Biology, 2016, v. 14, n. 3, p. 1, doi. 10.1371/journal.pbio.1002416

By:

Li, Chunmei;
Jensen, Victor L.;
Park, Kwangjin;
Kennedy, Julie;
Garcia-Gonzalo, Francesc R.;
Romani, Marta;
De Mori, Roberta;
Bruel, Ange-Line;
Gaillard, Dominique;
Doray, Bérénice;
Lopez, Estelle;
Rivière, Jean-Baptiste;
Faivre, Laurence;
Thauvin-Robinet, Christel;
Reiter, Jeremy F.;
Blacque, Oliver E.;
Valente, Enza Maria;
Leroux, Michel R.

Publication type:

Article

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70096

By:

Racine, Caroline;
Garde, Aurore;
Martz, Olivia;
Safraou, Hana;
Eluard, Vinciane;
Rousseau, Thierry;
Marle, Nathalie;
Harizay, Fara T.;
Martin, Laurent;
Maraval, Julien;
Bruel, Ange‐Line;
Philippe, Christophe;
Thauvin‐Robinet, Christel;
Faivre, Laurence

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363

By:

Ruault, Valentin;
Burger, Pauline;
Gradels‐Hauguel, Johanna;
Ruiz, Nathalie;
Jamra, Rami Abou;
Afenjar, Alexandra;
Alembik, Yves;
Alessandri, Jean‐Luc;
Arpin, Stéphanie;
Barcia, Giulia;
Bendová, Šárka;
Bruel, Ange‐Line;
Charles, Perrine;
Chatron, Nicolas;
Chopra, Maya;
Conrad, Solène;
Daire, Valérie Cormier;
Cospain, Auriane;
Coubes, Christine;
Coursimault, Juliette

Publication type:

Article

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869

By:

Sloboda, Natacha;
Lambert, Laetitia;
Ciorna, Viorica;
Bruel, Ange‐Line;
Tran Mau‐Them, Frédéric;
Gomola, Vladimir;
Lemelle, Jean‐Louis;
Klein, Olivier;
Camoin‐Schweitzer, Marie‐Christine;
Magnavacca, Marie;
Legagneur, Carole;
Ezsto, Marie‐Laure;
Bonnet, Céline;
Philippe, Christophe;
Leheup, Bruno

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

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.

Published in:

Human Genetics, 2024, v. 143, n. 1, p. 71, doi. 10.1007/s00439-023-02622-5

By:

Schmetz, Ariane;
Lüdecke, Hermann-Josef;
Surowy, Harald;
Sivalingam, Sugirtahn;
Bruel, Ange-Line;
Caumes, Roseline;
Charles, Perrine;
Chatron, Nicolas;
Chrzanowska, Krystyna;
Codina-Solà, Marta;
Colson, Cindy;
Cuscó, Ivon;
Denommé-Pichon, Anne-Sophie;
Edery, Patrick;
Faivre, Laurence;
Green, Andrew;
Heide, Solveig;
Hsieh, Tzung-Chien;
Hustinx, Alexander;
Kleinendorst, Lotte

Publication type:

Article

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Published in:

Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z

By:

Coursimault, Juliette;
Guerrot, Anne-Marie;
Morrow, Michelle M.;
Schramm, Catherine;
Zamora, Francisca Millan;
Shanmugham, Anita;
Liu, Shuxi;
Zou, Fanggeng;
Bilan, Frédéric;
Le Guyader, Gwenaël;
Bruel, Ange-Line;
Denommé-Pichon, Anne-Sophie;
Faivre, Laurence;
Tran Mau-Them, Frédéric;
Tessarech, Marine;
Colin, Estelle;
El Chehadeh, Salima;
Gérard, Bénédicte;
Schaefer, Elise;
Cogne, Benjamin

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

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Published in:

Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0

By:

Kim, Hyung-Goo;
Rosenfeld, Jill A.;
Scott, Daryl A.;
Bénédicte, Gerard;
Labonne, Jonathan D.;
Brown, Jason;
McGuire, Marianne;
Mahida, Sonal;
Naidu, Sakkubai;
Gutierrez, Jacqueline;
Lesca, Gaetan;
des Portes, Vincent;
Bruel, Ange-Line;
Sorlin, Arthur;
Xia, Fan;
Capri, Yline;
Muller, Eric;
McKnight, Dianalee;
Torti, Erin;
Rüschendorf, Franz

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

The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review.

Published in:

Clinical Genetics, 2025, v. 107, n. 5, p. 527, doi. 10.1111/cge.14688

By:

Colson, Cindy;
Tessarech, Marine;
Boucher‐Brischoux, Elise;
Boute‐Benejean, Odile;
Vincent‐Delorme, Catherine;
Vanlerberghe, Clémence;
Boussion, Simon;
Cunff, Justine Le;
Duban‐Bedu, Bénédicte;
Faivre, Laurence;
Thauvin, Christel;
Philippe, Christophe;
Bruel, Ange‐Line;
Tran Mau‐Them, Frédéric;
Houdayer, Clara;
Lesca, Gaetan;
Putoux, Audrey;
Lévy, Jonathan;
Patat, Olivier;
Rio, Marlène

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

SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?

Published in:

Clinical Genetics, 2024, v. 106, n. 6, p. 757, doi. 10.1111/cge.14608

By:

Malbos, Marlène;
Vera, Gabriella;
Sheth, Harsh;
Schnur, Rhonda E.;
Juven, Aurélien;
Brehin, Anne‐Claire;
Sheth, Jayesh;
Gandhi, Ajit;
Shapiro, Faye L.;
Bruel, Ange‐Line;
Marguet, Florent;
Begtrup, Amber;
Monaghan, Kristin G.;
Safraou, Hana;
Brasseur‐Daudruy, Marie;
Mau‐Them, Frédéric Tran;
Duffourd, Yannis;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Benke, Paul J.

Publication type:

Article

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 643, doi. 10.1111/cge.14045

By:

Hadouiri, Nawale;
Thomas, Quentin;
Darmency, Véronique;
Dulieu, Véronique;
De Rougemont, Marie‐Gabrielle Mourot;
Bruel, Ange‐Line;
Duffourd, Yannis;
Lecoquierre, François;
Colomb, Benoit;
Perez‐Martin, Stéphanie;
Ornetti, Paul;
Blanchard, Olivier;
Sorlin, Arthur;
Philippe, Christophe;
Faivre, Laurence;
Vitobello, Antonio;
Thauvin‐Robinet, Christel

Publication type:

Article

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 732, doi. 10.1111/cge.13933

By:

Cospain, Auriane;
Schaefer, Elise;
Faoucher, Marie;
Dubourg, Christèle;
Carré, Wilfrid;
Bizaoui, Varoona;
Assoumani, Jessica;
Van Maldergem, Lionel;
Piton, Amélie;
Gérard, Bénédicte;
Tran Mau‐Them, Frédéric;
Bruel, Ange‐Line;
Faivre, Laurence;
Demurger, Florence;
Pasquier, Laurent;
Odent, Sylvie;
Fradin, Mélanie;
Lavillaureix, Alinoë

Publication type:

Article

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840

By:

Tessier, Aude;
Boutaud, Lucile;
Bruel, Ange‐Line;
Thauvin‐Robinet, Christel;
Roth, Philippe;
Malan, Valérie;
Beaujard, Marie‐Paule;
Achaiaa, Amale;
Oliveira, Judite;
Steffann, Julie;
Encha‐Razavi, Ferechte;
Faivre, Laurence;
Bessières, Bettina;
Attié‐Bitach, Tania

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

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 19, doi. 10.1111/cge.13752

By:

Foster, Alison;
Chalot, Basile;
Antoniadi, Thalia;
Schaefer, Elise;
Keelagher, Rebecca;
Ryan, Gavin;
Thomas, Quentin;
Philippe, Christophe;
Bruel, Ange‐Line;
Sorlin, Arthur;
Thauvin‐Robinet, Christel;
Bardou, Marc;
Luu, Maxime;
Quenardelle, Veronique;
Wolff, Valerie;
Woodley, Jessica;
Vabres, Pierre;
Lim, Derek;
Igbokwe, Rebecca;
Joseph, Annie

Publication type:

Article

Expanding MNS1 Heterotaxy Phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63862

By:

Maraval, Julien;
Delahaye‐Duriez, Andrée;
Racine, Caroline;
Bruel, Ange‐Line;
Denommé‐Pichon, Anne‐Sophie;
Gaudillat, Léa;
Thauvin‐Robinet, Christel;
Lucain, Marie;
Satre, Véronique;
Coutton, Charles;
de Sainte Agathe, Jean‐Madelaine;
Keren, Boris;
Faivre, Laurence

Publication type:

Article

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739

By:

Lehalle, Daphné;
Bruel, Ange‐Line;
Vitobello, Antonio;
Denommé‐Pichon, Anne‐Sophie;
Duffourd, Yannis;
Assoum, Mirna;
Amiel, Jeanne;
Baujat, Geneviève;
Bessieres, Bettina;
Bigoni, Stefania;
Burglen, Lydie;
Captier, Guillaume;
Dard, Rodolphe;
Edery, Patrick;
Fortunato, Fernanda;
Geneviève, David;
Goldenberg, Alice;
Guibaud, Laurent;
Héron, Delphine;
Holder‐Espinasse, Muriel

Publication type:

Article

Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1497, doi. 10.1002/ajmg.a.62677

By:

Taylor, James;
Spiller, Michael;
Ranguin, Kara;
Vitobello, Antonio;
Philippe, Christophe;
Bruel, Ange‐Line;
Cappuccio, Gerarda;
Brunetti‐Pierri, Nicola;
Willems, Marjolaine;
Isidor, Bertrand;
Park, Kristen;
Balasubramanian, Meena

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

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662

By:

Lehalle, Daphné;
Altunoglu, Umut;
Bruel, Ange‐Line;
Assoum, Mirna;
Duffourd, Yannis;
Masurel, Alice;
Baujat, Geneviève;
Bessieres, Bettina;
Captier, Guillaume;
Edery, Patrick;
Elçioğlu, Nursel H.;
Geneviève, David;
Goldenberg, Alice;
Héron, Delphine;
Grotto, Sarah;
Marlin, Sandrine;
Putoux, Audrey;
Rossi, Massimiliano;
Saugier‐Veber, Pascale;
Triau, Stéphane

Publication type:

Article

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3136, doi. 10.1002/ajmg.a.38490

By:

Lehalle, Daphné;
Altunoglu, Umut;
Bruel, Ange‐Line;
Arnaud, Eric;
Blanchet, Patricia;
Choi, Jong‐Woo;
Désir, Julie;
Kiliç, Esra;
Lederer, Damien;
Pinson, Lucile;
Thauvin‐Robinet, Christel;
Singer, Amihood;
Thevenon, Julien;
Callier, Patrick;
Kayserili, Hulya;
Faivre, Laurence

Publication type:

Article

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969

By:

Gauthier‐Vasserot, Alexandra;
Thauvin‐Robinet, Christel;
Bruel, Ange‐Line;
Duffourd, Yannis;
St‐Onge, Judith;
Jouan, Thibaud;
Rivière, Jean‐Baptiste;
Heron, Delphine;
Donadieu, Jean;
Bellanné‐Chantelot, Christine;
Briandet, Claire;
Huet, Frédéric;
Kuentz, Paul;
Lehalle, Daphné;
Duplomb‐Jego, Laurence;
Gautier, Elodie;
Maystadt, Isabelle;
Pinson, Lucile;
Amram, Daniel;
El Chehadeh, Salima

Publication type:

Article