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

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

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

Abstract Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parenta

Externí odkaz: https://doaj.org/article/bbdbad8ddcb0479ebcf777fc0b41aff1

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

Autor: Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J. Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandara, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Beneteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik Sistermans, R. Frank Kooy, David J. Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan

Publikováno v: medRxiv

We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified correlations b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16abc621e8896a2a8b4693832e9d8dc5
https://europepmc.org/articles/PMC10246151/

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

Autor: Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange‐line Bruel, Ludwig Serge Aho Glele, Arthur Sorlin, Eleonore Viora‐Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sébastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frédéric Tran‐Mau‐Them, Christophe Philippe, Paul Kuentz, Marlène Poulleau, Muriel Payet, Charlotte Poe, Christel Thauvin‐Robinet, Laurence Faivre, Anne‐Laure Mosca‐Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier

Publikováno v: Annals of human geneticsREFERENCES. 86(4)

It has been estimated that Copy Number Variants (CNVs) account for 10%-20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID). Although array comparative genomic hybridization (array-CGH) represents the gold-standard for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c22f7b4a3fe0b3d822d5adbcce1208
https://pubmed.ncbi.nlm.nih.gov/35141892

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Autor: Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf6c41b5e591ac3592571ea1af83d4b
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxK

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Autor: Anne-Sophie Denommé-Pichon, Laetitia Gouas, Martin Chevarin, Marlène Rio, Elodie Gautier, Sonia Bouquillon, Nolwenn Jean-Marçais, Jennifer Fabre-Teste, Dominique Martin, Elise Schaefer, Fabienne Giuliano, Didier Lacombe, Sophie Nambot, Gaëlle Vieville, Sophie Blesson, Paul Kuentz, Christine Francannet, Yannis Duffourd, Aurélien Juven, Alice Masurel, Patrick Callier, Arnold Munnich, Salima El Chehadeh, Sophie Rondeau, Christophe Philippe, Amélie Piton, Fanny Laffargue, Catherine Vincent Delorme, Marie Vincent, Olivier Pichon, Bénédicte Gérard, Anne-Laure Mosca-Boidron, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Perrin-Sabourin, Nathalie Marle, Cédric Le Caignec, Laurence Faivre, Hubert Journel, Klaus Dieterich

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩

International audience; Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49416efdfdb6fb70d9dd48a27fb46e14
https://hal.archives-ouvertes.fr/hal-02883449