Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

Authors: Yauy, Kevin, Lecoquierre, François, Baert-Desurmont, Stéphanie, Trost, Detlef, Boughalem, Aicha, Luscan, Armelle, Costa, Jean-Marc, Geromel, Vanna, Raymond, Laure, Richard, Pascale, Coutant, Sophie, Broutin, Mélanie, Lanos, Raphael, Fort, Quentin, Cackowski, Stenzel, Testard, Quentin, Diallo, Abdoulaye, Soirat, Nicolas, Holder, Jean-Marc, Duforet-Frebourg, Nicolas, Bouge, Anne-Laure, Beaumeunier, Sacha, Bertrand, Denis, Audoux, Jerome, Genevieve, David, Mesnard, Laurent, Nicolas, Gael, Thevenon, Julien, Philippe, Nicolas

Source: In Genetics in Medicine June 2022 24(6):1316-1327

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.

Authors: Bobric, Nicoleta-Andreea, Grevoul-Fesquet, Julie, Rigonnot, Luc, Trost, Detlef, Boughalem, Aïcha, Martinovic, Jelena

Source: Pediatric & Developmental Pathology; Nov/Dec2024, Vol. 27 Issue 6, p603-607, 5p

Subject Terms: EXOCRINE pancreatic insufficiency, SKELETAL dysplasia, GENETIC counseling, ABORTION, SKELETAL abnormalities

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

Authors: Garret, Philippine, Ebstein, Frédéric, Delplancq, Geoffroy, Dozieres‐Puyravel, Blandine, Boughalem, Aïcha, Auvin, Stéphane, Duffourd, Yannis, Klafack, Sandro, Zieba, Barbara A., Mahmoudi, Sana, Singh, Karun K., Duplomb, Laurence, Thauvin‐Robinet, Christel, Costa, Jean‐Marc, Krüger, Elke, Trost, Detlef, Verloes, Alain, Faivre, Laurence, Vitobello, Antonio

Source: Clinical genetics. 97(4):567-575

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106682971.0x000001&indx=1&recIds=ETOCvdc_100106682971.0x000001

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.

Authors: Boughalem, Aïcha, Ciorna-Monferrato, Viorica, Sloboda, Natacha, Guegan, Amélie, Page, François, Zimmer, Sophie, Benazra, Marion, Kleinfinger, Pascale, Lohmann, Laurence, Valduga, Mylène, Receveur, Aline, Martin, Fernando, Trost, Detlef

Source: Frontiers in Genetics; 2024, p1-7, 7p

Subject Terms: GENE mapping, WHOLE genome sequencing, GENETIC testing, JOINT hypermobility, GENETIC variation

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Authors: 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

Source: Human mutation. 40(12):2430-2443

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093630769.0x000001&indx=1&recIds=ETOCvdc_100093630769.0x000001

P612: Application of prenatal exome sequencing in fetuses with multiple congenital sonographic abnormalities: A report of three cases

Authors: Huynh, Minh-Tuan, Potel, Stéphanie, Degre, Sophie, Panchout, Anne, Bréon, Cathy, Trost, Detlef, Proust, Alexis, Bouligand, Jérôme, Bréhin, Anne-Claire, Patrier-Sallebert, Sophie, Boughalem, Aicha

Source: In Genetics in Medicine Open 2023 1(1) Supplement

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

Authors: Garret, Philippine, Chevarin, Martin, Vitobello, Antonio, Verdez, Simon, Fournier, Cyril, Verloes, Alain, Tisserant, Emilie, Vabres, Pierre, Prevel, Orlane, Philippe, Christophe, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Mau-Them, Frédéric Tran, Safraou, Hana, Boughalem, Aïcha, Costa, Jean-Marc, Trost, Detlef, Thauvin-Robinet, Christel, Faivre, Laurence, Duffourd, Yannis

Source: European Journal of Human Genetics: EJHG; July 2023, Vol. 31 Issue: 7 p761-768, 8p

Combination of the MEK Inhibitor Trametinib and Pyrvinium Pamoate Efficiently Targets RAS Pathway-Mutated Acute Myeloid Leukemia in Preclinical Models

Authors: Decroocq, Justine ^*, Birsen, Rudy ^*, Mano, Jordi ^*, Fouquet, Guillemette ^*, Gotanègre, Mathilde ^*, Poulain, Laury ^*, Mouche, Sarah ^*, Alary, Anne-Sophie ^*, Grenier, Adrien ^*, Mazed, Fetta ^*, Mondesir, Johanna ^*, Chapuis, Nicolas ^*, Boughalem, Aicha ^*, Le Lorc'h, Marc ^*, Moura, Ivan C, Hermine, Olivier ^*, Radford-Weiss, Isabelle ^*, Sarry, Jean-Emmanuel ^*, Pasmant, Eric ^*, Kosmider, Olivier ^*, Bouscary, Didier ^*, Tamburini, Jerome ^*

Source: In Blood 13 November 2019 134 Supplement 1:2671-2671