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

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Correction: Planar cell polarity zebrafish models of congenital scoliosis reveal underlying defects in notochord morphogenesis

更正:平面细胞极性斑马鱼先天性脊柱侧弯模型揭示了脊索形态发生的潜在缺陷

Wang, Mingqin; Zhao, Sen; Shi, Chenjun; Guyot, Marie-Claude; Liao, Meijiang; Tauer, Josephine T; Willie, Bettina M; Cobetto, Nikita; Aubin, Carl-Éric; Küster-Schöck, Elke; Drapeau, Pierre; Zhang, Jitao; Wu, Nan; Kibar, Zoha

Risk of meningomyelocele mediated by the common 22q11.2 deletion

常见的22q11.2缺失介导的脊髓脊膜膨出风险

Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araújo, Camila; Machado, Hélio R; George, Renee; Gerding, Bryn; James, Kiely N; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H; Kibar, Zoha; Marwan, Ahmed I; Melikishvili, Gia; Meltzer, Hal S; Mutchinick, Osvaldo M; Stevenson, David A; Mroczkowski, Henry J; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H; Emanuel, Beverly S; Garcia-Minaur, Sixto; Nowakowska, Beata A; Stevenson, Roger E; Zaki, Maha S; Northrup, Hope; McNamara, Hanna K; Aldinger, Kimberly A; Phelps, Ian G; Deng, Mei; Glass, Ian A; Morrow, Bernice; McDonald-McGinn, Donna M; Sanna-Cherchi, Simone; Lamb, Dolores J; Gleeson, Joseph G

Planar cell polarity zebrafish models of congenital scoliosis reveal underlying defects in notochord morphogenesis.

斑马鱼平面细胞极性先天性脊柱侧弯模型揭示了脊索形态发生的潜在缺陷

Wang Mingqin, Zhao Sen, Shi Chenjun, Guyot Marie-Claude, Liao Meijiang, Tauer Josephine T, Willie Bettina M, Cobetto Nikita, Aubin Carl-Éric, Küster-Schöck Elke, Drapeau Pierre, Zhang Jitao, Wu Nan, Kibar Zoha

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

先天性甲状腺功能减退症(甲状腺发育不全所致)的全外显子组测序

Larrivée-Vanier, Stéphanie; Jean-Louis, Martineau; Magne, Fabien; Bui, Helen; Rouleau, Guy A; Spiegelman, Dan; Samuels, Mark E; Kibar, Zoha; Van Vliet, Guy; Deladoëy, Johnny

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia

新的鼠类 Rpl5 (uL18) 突变为具有可变外显率的 Diamond-Blackfan 贫血症提供了一个独特的模型。

Yu, Lei; Lemay, Philippe; Ludlow, Alexander; Guyot, Marie-Claude; Jones, Morgan; Mohamed, Fatma F; Saroya, Ghazi-Abdullah; Panaretos, Christopher; Schneider, Emily; Wang, Yu; Myers, Greggory; Khoriaty, Rami; Li, Qing; Franceschi, Renny; Engel, James Douglas; Kaartinen, Vesa; Rothstein, Thomas L; Justice, Monica J; Kibar, Zoha; Singh, Sharon A

Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention

由TSH受体基因中一种新的深内含子突变引起的严重先天性甲状腺功能减退症,该突变导致内含子保留

Larrivée-Vanier, Stéphanie; Magne, Fabien; Hamdoun, Elwaseila; Petryk, Anna; Kibar, Zoha; Van Vliet, Guy; Deladoëy, Johnny

Whole exome sequencing identifies novel predisposing genes in neural tube defects

全外显子组测序鉴定出神经管缺陷的新易感基因

Lemay, Philippe; De Marco, Patrizia; Traverso, Monica; Merello, Elisa; Dionne-Laporte, Alexandre; Spiegelman, Dan; Henrion, Édouard; Diallo, Ousmane; Audibert, François; Michaud, Jacques L; Cama, Armando; Rouleau, Guy A; Kibar, Zoha; Capra, Valeria

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels

一项全基因组关联研究确定了与查理王小猎犬继发于小脑扁桃体下疝畸形的脊髓空洞症相关的候选基因位点。

Ancot, Frédéric; Lemay, Philippe; Knowler, Susan P; Kennedy, Karen; Griffiths, Sandra; Cherubini, Giunio Bruto; Sykes, Jane; Mandigers, Paul J J; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

发育性和癫痫性脑病中复发性新生突变发生率高

Hamdan, Fadi F; Myers, Candace T; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T; Rosenfeld, Jill A; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E; Thomas, Rhys H; Shelagh, Joss; Hurst, Jane A; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K; Dorison, Sara J; Benke, Paul J; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T; Bruel, Ange-Line; Verloes, Alain; Õunap, Katrin; Wojcik, Monica H; Albert, Dara V F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S; Bizargity, Peyman; Bacino, Carlos A; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J; Purcarin, Gabriela; O'Byrne, James J; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, Stéphane; Nava, Caroline; Hiatt, Susan M; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R; Frye, Richard E; Jarjour, Imad T; Jacques, Stéphanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, François; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F; Sadleir, Lynette G; Campeau, Philippe M; Kibar, Zoha; Lafrenière, Ronald G; Girard, Simon L; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A; Scheffer, Ingrid E; Mefford, Heather C; Andrade, Danielle M; Rossignol, Elsa; Minassian, Berge A; Michaud, Jacques L