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

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

作者更正:基因组尸检用于识别妊娠丢失和围产期死亡的根本原因

Byrne, Alicia B; Arts, Peer; Ha, Thuong T; Kassahn, Karin S; Pais, Lynn S; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S B; Feng, Jinghua; Wang, Paul; Lawrence, David M; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T Yee; Moore, Lynette; Liebelt, Jan E; Schreiber, Andreas W; King-Smith, Sarah L; Hardy, Tristan S E; Jackson, Matilda R; Barnett, Christopher P; Scott, Hamish S

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

WWOX发育性和癫痫性脑病:了解癫痫病学和死亡风险

Oliver, Karen L; Trivisano, Marina; Mandelstam, Simone A; De Dominicis, Angela; Francis, David I; Green, Timothy E; Muir, Alison M; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A; Leventer, Richard J; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S; Mefford, Heather C; Kaindl, Angela M; Specchio, Nicola; Scheffer, Ingrid E

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant

整合 EpiSign、面部表型分析和似然比解释临床异常,对 ARID1B 错义变异进行重新分类

Forwood, Caitlin; Ashton, Katie; Zhu, Ying; Zhang, Futao; Dias, Kerith-Rae; Standen, Krystle; Evans, Carey-Anne; Carey, Louise; Cardamone, Michael; Shalhoub, Carolyn; Katf, Hala; Riveros, Carlos; Hsieh, Tzung-Chien; Krawitz, Peter; Robinson, Peter N; Dudding-Byth, Tracy; Sadikovic, Bekim; Pinner, Jason; Buckley, Michael F; Roscioli, Tony

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

从将超快速基因组检测推广到全国范围,为危重儿童提供借鉴

Best, Stephanie; Brown, Helen; Lunke, Sebastian; Patel, Chirag; Pinner, Jason; Barnett, Christopher P; Wilson, Meredith; Sandaradura, Sarah A; McClaren, Belinda; Brett, Gemma R; Braithwaite, Jeffrey; Stark, Zornitza

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

第二组 CHD3 患者进一步拓展了已知的导致 Snijders-Blok-Campeau 综合征的分子机制。

Drivas, Theodore G; Li, Dong; Nair, Divya; Alaimo, Joseph T; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E Martina; Bertsch, Nicole L; Blackburn, Patrick R; Blesson, Alyssa; Bouman, Arjan M; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E; Gunderson, Lauren B; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L; Milunsky, Jeff M; Napier, Melanie P; Ortiz-Gonzalez, Xilma R; Pichurin, Pavel N; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J; Renaud, Deborah L; Rush, Eric T; Saunders, Carol; Selcen, Duygu; Seman, Ann R; Shinde, Deepali N; Smith, Erica D; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L; van de Kamp, Jiddeke M; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

复发性 TTN 元转录本 c.39974-11T>G 剪接变异与常染色体隐性遗传性先天性多发性关节挛缩症和肌病相关

Bryen, Samantha J; Ewans, Lisa J; Pinner, Jason; MacLennan, Suzanna C; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M; Hu, Ying; Grosmann, Carla; Malicki, Denise M; Doyle, Helen; Witting, Nanna; Vissing, John; Claeys, Kristl G; Urankar, Kathryn; Beleza-Meireles, Ana; Baptista, Julia; Ellard, Sian; Savarese, Marco; Johari, Mridul; Vihola, Anna; Udd, Bjarne; Majumdar, Anirban; Straub, Volker; Bönnemann, Carsten G; MacArthur, Daniel G; Davis, Mark R; Cooper, Sandra T

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

澳大利亚卫生专业人员对新生儿和儿科重症监护中快速基因组检测的态度

Stark, Zornitza; Nisselle, Amy; McClaren, Belinda; Lynch, Fiona; Best, Stephanie; Long, Janet C; Martyn, Melissa; Patel, Chirag; Schlapbach, Luregn J; Barnett, Christopher; Theda, Christiane; Pinner, Jason; Dinger, Marcel E; Lunke, Sebastian; Gaff, Clara L

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

天冬酰胺合成酶缺乏症姐妹的膈肌膨出:一种新的纯合ASNS突变和扩展表型

Sun, Jun; McGillivray, Angela J; Pinner, Jason; Yan, Zhihui; Liu, Fengxia; Bratkovic, Drago; Thompson, Elizabeth; Wei, Xiuxiu; Jiang, Huifeng; Asan; Chopra, Maya

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

肺泡毛细血管发育不良伴肺静脉错位的发病机制

Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S; Kussmann, Jennifer L; Chawla, Jasneek; Payton, Diane J; Phillips, Gael E; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A; Langston, Claire; Lupski, James R; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł