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

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

体验急性基因组护理:新生儿和儿科重症监护病房家长对快速基因组测序的看法

Mackley, Michael P; Dickson, Megan A; Szuto, Anna; Anderson, James; Chitayat, David; Hayeems, Robin Z; Mendoza-Londono, Roberto; Ng, Eugene; Offringa, Martin; Wang, Yi Wen; Ly, Linh G; Chad, Lauren

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study

了解基因组学次要发现对临床护理和患者体验的影响:一项前瞻性观察研究方案

Assamad, Daniel; Hansen, Abigail; Fooks, Katharine; Luca, Stephanie; Venkataramanan, Viji; Hsue, Erin; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B; Beausejour Ladouceur, Virginie; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P; Marshall, Christian R; Mendoza-Londono, Roberto; Morel, Chantal F; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitri J; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J; Boycott, Kym M; Ungar, Wendy J; Hayeems, Robin Z

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见病队列中的临床应用及分子层面的见解

Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

评估血液转录组分析对先前已通过基因组测序评估的儿科队列的诊断价值

Hou, Huayun; Yuki, Kyoko E; Costain, Gregory; Szuto, Anna; Barnes, Sierra; Ramani, Arun K; Celik, Alper; Braga, Michael; Gloven-Brown, Meagan; Stavropoulos, Dimitri J; Bowdin, Sarah; Cohn, Ronald D; Mendoza-Londono, Roberto; Scherer, Stephen W; Brudno, Michael; Marshall, Christian R; Stephen Meyn, M; Shlien, Adam; Dowling, James J; Wilson, Michael D; Kyriakopoulou, Lianna

Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board

将基因组研究成果转化为临床应用的咨询服务实施:来自多伦多儿童医院基因组委员会的经验教训

Pan, Amy Y; Pulsifer, Kenzie; Axford, Michelle M; Dolman, Lena; Gallinger, Bailey; Liston, Eriskay; Stephenson, Elizabeth; Szuto, Anna; Zahavich, Laura; Costain, Gregory

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

GRIA3基因的功能获得性变异和功能丧失性变异会导致不同的神经发育表型。

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; Sully, Krystal; Murali, Chaya N; Burrage, Lindsay C; Plaud Gonzalez, Julie Ana; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jérémie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Mélanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Patron Romero, Leslie; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortüm, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Møller, Rikke S; Tümer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R; Shi, Yun Stone; Kristensen, Anders S

25 Genomic medicine in paediatric care for neurodevelopmental disorders: An assessment of practices, attitudes and education needs of Ontario paediatricians

25. 基因组医学在儿童神经发育障碍治疗中的应用:安大略省儿科医生的实践、态度和教育需求评估

Relke, Nicole; Soleas, Eleftherios; Lui, C Janet; Szuto, Anna; Dickson, Megan; Baribeau, Danielle; Carroll, June C; Carter, Melissa T; Chad, Lauren; Costain, Gregory; Hewson, Stacy; Peltekova, Iskra T

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana