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

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

人类 P4-ATP 酶的出口位点控制底物特异性,神经系统疾病中的新生点突变揭示了这一点

Calianese David C, Noji Tomoyasu, Sullivan Jennifer A, Schoch Kelly, Shashi Vandana, McNiven Vanda, Ramos Luiza Lorena Pires, Jordanova Albena, Kárteszi Judit, Ishikita Hiroshi, Nagata Shigekazu

A second hotspot for pathogenic exon-skipping variants in CDC45

CDC45基因中致病性外显子跳跃变异的第二个热点区域

Schoch, Kelly; Ruegg, Mischa S G; Fellows, Bridget J; Cao, Joseph; Uhrig, Sabine; Einsele-Scholz, Stephanie; Biskup, Saskia; Hawarden, Samuel R A; Salpietro, Vincenzo; Capra, Valeria; Brown, Chris M; Accogli, Andrea; Shashi, Vandana; Bicknell, Louise S

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

对RNA测序数据的重新分析结束了漫长的诊断历程,并扩展了先天性肌联蛋白病的表型谱。

McNamee, Lucy; Schoch, Kelly; Huang, Alden; Lee, Hane; Wang, Lee-Kai; Smith, Edward C; Lark, Robert K; Buckley, Anne F; Jobanputra, Vaidehi; Nelson, Stanley F; Shashi, Vandana

Exome/Genome Sequencing in Undiagnosed Syndromes

未确诊综合征的外显子组/基因组测序

Sullivan, Jennifer A; Schoch, Kelly; Spillmann, Rebecca C; Shashi, Vandana

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

对基因组数据进行同步双重分析可增强诊断:未确诊疾病网络中两个临床中心的经验

Spillmann, Rebecca C; Tan, Queenie K-G; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T; Bernstein, Jonathan A; Shashi, Vandana

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

核糖核酸酶抑制剂 (RNH1) 是一种炎症小体调节因子,其双等位基因变异与一种独特的急性坏死性脑病亚型相关。

Shashi, Vandana; Schoch, Kelly; Ganetzky, Rebecca; Kranz, Peter G; Sondheimer, Neal; Markert, M Louise; Cope, Heidi; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Tyndall, Amanda V; Esser, Michael J; Woodward, Kristine E; Ping-Yee Au, Billie; Parboosingh, Jillian S; Lamont, Ryan E; Bernier, Francois P; Wright, Nicola A M; Benseler, Susa M; Parsons, Simon J; El-Dairi, Mays; Smith, Edward C; Valdez, Purnima; Tennison, Michael; Innes, A Micheil; Davis, Erica E

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

父母对与NACC1相关的超罕见遗传疾病中间歇性易怒的看法

Schoch, Kelly; McConkie-Rosell, Allyn; Walley, Nicole; Bhambhani, Vikas; Feyma, Timothy; Pizoli, Carolyn E; Smith, Edward C; Tan, Queenie K-G; Shashi, Vandana

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

揭示基因组研究参与度低的原因:障碍、促进因素和社会文化因素之间复杂的相互作用

McConkie-Rosell, Allyn; Spillmann, Rebecca C; Schoch, Kelly; Sullivan, Jennifer A; Walley, Nicole; McDonald, Marie; Hooper, Stephen R; Shashi, Vandana