日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort

法国人群中严重非综合征性特定学习和语言障碍的外显子组测序

Viora-Dupont, Eléonore; Delanne, Julian; Garde, Aurore; Nambot, Sophie; Colin, Estelle; Bournez, Marie; Fauconnier-Fatus, Clémence; Racine, Caroline; Simao De Souza, Clément; Bernard, Céline; Maurer, Agnès; Espitalier, Aurélie; Binquet, Christine; Bouctot, Marion; Humbert, Marie-Laure; Briffaut, Anne-Sophie; Darmency, Véronique; Plumet, Patricia; Cotinaud-Ricou, Audrey; Relin, Noémie; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Tran Mau-Them, Frederic; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Vitobello, Antonio; Philippe, Christophe; Duffourd, Yannis; Bruel, Ange-Line; Thauvin-Robinet, Christel; Faivre, Laurence

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

选择性交配和父母遗传相关性导致可变表达变异的致病性

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

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

选择性交配和父母遗传相关性驱动可变表达变异的致病性

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

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

在一项包含547名发育障碍患者的队列研究中,通过外显子组测序诊断遗传性代谢疾病的诊断率

Delanne, Julian; Bruel, Ange-Line; Huet, Frédéric; Moutton, Sébastien; Nambot, Sophie; Grisval, Margot; Houcinat, Nada; Kuentz, Paul; Sorlin, Arthur; Callier, Patrick; Jean-Marcais, Nolwenn; Mosca-Boidron, Anne-Laure; Mau-Them, Frédéric Tran; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Lehalle, Daphné; El Chehadeh, Salima; Francannet, Christine; Lebrun, Marine; Lambert, Laetitia; Jacquemont, Marie-Line; Gerard-Blanluet, Marion; Alessandri, Jean-Luc; Willems, Marjolaine; Thevenon, Julien; Chouchane, Mondher; Darmency, Véronique; Fatus-Fauconnier, Clémence; Gay, Sébastien; Bournez, Marie; Masurel, Alice; Leguy, Vanessa; Duffourd, Yannis; Philippe, Christophe; Feillet, François; Faivre, Laurence; Thauvin-Robinet, Christel

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

基于混合亲代DNA的外显子组测序三联体策略在罕见病诊断和转化研究中的应用前景

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

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

新发TBR1变异导致伴有智力障碍和自闭症特征的神经认知表型:25例新病例报告及文献综述

Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valérie; Amram, Daniel; Boute-Bénéjean, Odile; Bhoj, Elizabeth; Cousin, Margot A; Kruisselbrink, Teresa M; Lanpher, Brendan C; Klee, Eric W; Fiala, Elise; Grange, Dorothy K; Meschino, Wendy S; Hiatt, Susan M; Cooper, Gregory M; Olivié, Hilde; Smith, Wendy E; Dumas, Meghan; Lehman, Anna; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C; Pajusalu, Sander; Õunap, Katrin; Filiano, James J; Smol, Thomas; Piton, Amélie; Gérard, Bénédicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poé, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Rivière, Jean-Baptiste; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B; Hevner, Robert; Thauvin-Robinet, Christel

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

细胞遗传学中的基因组测序:短读长测序和长读长测序方法在种系结构变异检测和表征中的比较

Uguen, Kévin; Jubin, Claire; Duffourd, Yannis; Bardel, Claire; Malan, Valérie; Dupont, Jean-Michel; El Khattabi, Laila; Chatron, Nicolas; Vitobello, Antonio; Rollat-Farnier, Pierre-Antoine; Baulard, Céline; Lelorch, Marc; Leduc, Aurélie; Tisserant, Emilie; Tran Mau-Them, Frédéric; Danjean, Vincent; Delepine, Marc; Till, Marianne; Meyer, Vincent; Lyonnet, Stanislas; Mosca-Boidron, Anne-Laure; Thevenon, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Schluth-Bolard, Caroline; Boland, Anne; Olaso, Robert; Callier, Patrick; Romana, Serge; Deleuze, Jean-François; Sanlaville, Damien

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

勘误:作者更正:用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas