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

Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial

每周一次使用萘培格里肽治疗软骨发育不全患儿:APPROACH随机临床试验

Savarirayan, Ravi; McDonnell, Ciara; Bacino, Carlos A; Hoernschemeyer, Daniel G; Legare, Janet M; Abuzzahab, M Jennifer; Hofman, Paul L; Campeau, Philippe M; de Bergua Domingo, Josep Maria; Ward, Leanne M; Smit, Kevin; Smith, Alden; Mao, Meng; Ominsky, Michael S; Freiberg, Lærke C; Shu, Aimee D; Hove, Hanne B

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve)

对软骨发育不全患儿的纵向观察:一项全球自然史研究(ACHieve)的发现

McDonnell, Ciara; Hove, Hanne Buciek; Irving, Melita; White, Klane K; Fontecha, Cesar G; Legare, Janet M; Högler, Wolfgang; Hoernschemeyer, Daniel G; Schnabel, Dirk; Unger, Sheila; Bacino, Carlos Alberto; Hofman, Paul; Yu, Yongguo; Ma, Huamei; Gong, Chunxiu; Luo, Xiaoping; Burrow, T Andrew; Baujat, Geneviève; Mora, Stefano; Fiscaletti, Melissa; Zhao, Carol; Makara, Michael A; Shu, Aimee D; Savarirayan, Ravi

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因的新生突变与严重的神经发育障碍和先天性异常有关。

Weisz-Hubshman, Monika; Burrage, Lindsay C; Jangam, Sharayu V; Rosenfeld, Jill A; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K; Hernan, Rebecca R; Lim, Foong Y; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K; Wangler, Michael F; Bacino, Carlos; Lee, Brendan

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha

一名患有综合征且DNA甲基转移酶3α基因存在杂合错义变异的患者,其颈动脉副神经节瘤复发。

German, Ryan J; Vuocolo, Blake; Vossaert, Liesbeth; Saba, Lisa; Fletcher, Robin; Tedder, Matthew L; Sadikovic, Bekim; Kerkhof, Jennifer; Wangler, Michael; Bacino, Carlos A

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

MED12功能缺失变异是患有哈迪卡综合征和非特异性智力障碍的女性先天性膈疝的病因

Kao, Eric C; Mizerik, Elizabeth A; Bacino, Carlos A; Dai, Hongzheng; Vossaert, Liesbeth; Scott, Daryl A

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

由 lncRNA 基因 CHASERR 缺失引起的神经发育障碍

Ganesh, Vijay S; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C; Monin, Pauline; O'Leary, Melanie C; Goodrich, Julia K; Garimella, Kiran V; England, Eleina; Weisburd, Ben; Aguet, François; Bacino, Carlos A; Murdock, David R; Dai, Hongzheng; Rosenfeld, Jill A; Emrick, Lisa T; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisée; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; MacArthur, Daniel G; Ulitsky, Igor; Carvill, Gemma L; O'Donnell-Luria, Anne

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

人源细胞转分化结合RNA测序的临床应用及诊断实施

Shenglan Li,Sen Zhao,Jefferson C Sinson,Aleksandar Bajic,Jill A Rosenfeld,Matthew B Neeley,Mezthly Pena,Kim C Worley,Lindsay C Burrage,Monika Weisz-Hubshman,Shamika Ketkar,William J Craigen,Gary D Clark,Seema Lalani,Carlos A Bacino,Keren Machol,Hsiao-Tuan Chao,Lorraine Potocki,Lisa Emrick,Jennifer Sheppard,My T T Nguyen,Anahita Khoramnia,Paula Patricia Hernandez,Sandesh Cs Nagamani,Zhandong Liu

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Late break abstract - 2024

2024 年最新摘要

Vuocolo, Blake; German, Ryan J; Lalani, Seema R; Murali, Chaya N; Bacino, Carlos A; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D; McLean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E; Robak, Laurie; Nagamani, Sandesh C S; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K Jordan; Carter, Kent; Owen, Nichole; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F

Developmental milestones and daily living skills in individuals with Angelman syndrome

安格曼综合征患者的发育里程碑和日常生活技能

Sadhwani, Anjali; Powers, Sonya; Wheeler, Anne; Miller, Hillary; Potter, Sarah Nelson; Peters, Sarika U; Bacino, Carlos A; Skinner, Steven A; Wink, Logan K; Erickson, Craig A; Bird, Lynne M; Tan, Wen-Hann