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

Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome

一系列检测手段揭示了与异常轻微的表型和良好预后相关的9p24q22.3嵌合型四体综合征的产前诊断特征

Lee, Crystle; Casey, Ellen; Amor, David J

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

BabyScreen+ 基因组新生儿筛查研究的可行性、可接受性和临床结果

Lunke, Sebastian; Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; De Fazio, Paul; Hollizeck, Sebastian; Bouffler, Sophie E; Amor, David J; Archibald, Alison D; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; Fagan, Wendy; Gaff, Clara; Greaves, Ronda F; Gyngell, Christopher; Kanga-Parabia, Anaita; Lang, Nitzan; Lee, Crystle; Lynch, Fiona; Marty, Anthony; Marty, Melanie; McGregor, Candice; Riseley, Jessica; Sadedin, Simon; Scarff, Katrina; da Cunha Torres, Michelle; Tutty, Erin; Vang, Ching; Wall, Meaghan; Wong, Ee Ming; Yeung, Alison; Goranitis, Ilias; Best, Stephanie; Vears, Danya F; Stark, Zornitza

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

前瞻性队列研究:新生儿基因组筛查:BabyScreen+试点研究方案

Lunke, Sebastian; Bouffler, Sophie E; Downie, Lilian; Caruana, Jade; Amor, David J; Archibald, Alison; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; De Fazio, Paul; Greaves, Ronda F; Hollizeck, Sebastian; Kanga-Parabia, Anaita; Lang, Nitzan; Lynch, Fiona; Peters, Riccarda; Sadedin, Simon; Tutty, Erin; Eggers, Stefanie; Lee, Crystle; Wall, Meaghan; Yeung, Alison; Gaff, Clara; Gyngell, Christopher; Vears, Danya F; Best, Stephanie; Goranitis, Ilias; Stark, Zornitza

Measuring irritability in young adults: An integrative review of measures and their psychometric properties

测量青年人的易怒性:测量方法及其心理测量特性的综合综述

Saatchi, Babak; Agbayani, Crystle-Joie G; Clancy, Stephen L; Fortier, Michelle A

Immunological and psychosocial functioning in parents of children with cancer.

癌症患儿父母的免疫和心理社会功能

Agbayani Crystle-Joie, Tucker Jo A, Nelson Edward L, Martinez Freddy, Cortes Haydee, Khoury Dina, Kain Zeev N, Lin Carol, Torno Lilibeth, Fortier Michelle A

Building Sustainable Models of Research-Practice Partnerships Within Educational Systems

在教育系统中构建可持续的研究实践伙伴关系模式

Alonzo, Crystle N; Komesidou, Rouzana; Wolter, Julie A; Curran, Maura; Ricketts, Jessie; Hogan, Tiffany P

Prologue: Implementation Science in CSD and Starting Where You Are

序言:CSD中的实施科学以及从你所在的地方开始

Davidson, Meghan M; Alonzo, Crystle N; Barton-Hulsey, Andrea; Binger, Cathy; Bridges, Mindy; Caron, Jessica; Douglas, Natalie F; Feuerstein, Julie L; Olswang, Lesley; Oshita, Jennifer Y; Schliep, Megan E; Quinn, Emily; Morris, Megan A

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies

NBAS 相关急性肝衰竭的独特诊断轨迹凸显了及时进行功能研究的必要性

Lauren S Akesson, Rocio Rius, Natasha J Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G Compton, David R Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornit

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AFF3降解子区域的变异与智力障碍、肢体中段发育不良、马蹄肾和癫痫性脑病相关。

Norine Voisin ,Rhonda E Schnur ,Sofia Douzgou ,Susan M Hiatt ,Cecilie F Rustad ,Natasha J Brown ,Dawn L Earl ,Boris Keren ,Olga Levchenko ,Sinje Geuer ,Sarah Verheyen ,Diana Johnson ,Yuri A Zarate ,Miroslava Hančárová ,David J Amor ,E Martina Bebin ,Jasmin Blatterer ,Alfredo Brusco ,Gerarda Cappuccio ,Joel Charrow ,Nicolas Chatron ,Gregory M Cooper ,Thomas Courtin ,Elena Dadali ,Julien Delafontaine ,Ennio Del Giudice ,Martine Doco ,Ganka Douglas ,Astrid Eisenkölbl ,Tara Funari ,Giuliana Giannuzzi ,Ursula Gruber-Sedlmayr ,Nicolas Guex ,Delphine Heron ,Øystein L Holla ,Anna C E Hurst ,Jane Juusola ,David Kronn ,Alexander Lavrov ,Crystle Lee ,Séverine Lorrain ,Else Merckoll ,Anna Mikhaleva ,Jennifer Norman ,Sylvain Pradervand ,Darina Prchalová ,Lindsay Rhodes ,Victoria R Sanders ,Zdeněk Sedláček ,Heidelis A Seebacher ,Elizabeth A Sellars ,Fabio Sirchia ,Toshiki Takenouchi ,Akemi J Tanaka ,Heidi Taska-Tench ,Elin Tønne ,Kristian Tveten ,Giuseppina Vitiello ,Markéta Vlčková ,Tomoko Uehara ,Caroline Nava ,Binnaz Yalcin ,Kenjiro Kosaki ,Dian Donnai ,Stefan Mundlos ,Nicola Brunetti-Pierri ,Wendy K Chung ,Alexandre Reymond

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

通过协作方式解决基因不一致问题,扩大国家和国际层面虚拟基因面板管理水平的提升。

Stark, Zornitza; Foulger, Rebecca E; Williams, Eleanor; Thompson, Bryony A; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U S; Puzriakova, Arina; Daugherty, Louise C; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K; Thomas, Ellen R A; Taylor Tavares, Ana Lisa; McEntagart, Meriel; White, Susan M; Tan, Tiong Y; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C; Hill, Sue L; Caulfield, Mark J; North, Kathryn N; Scott, Richard H; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M