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

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

SeqFirst:为危重症新生儿构建公平获得精准基因诊断的机会

Wenger, Tara L; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J; Marvin, Colby T; Shively, Kathryn M; Bacus, Tamara; Sommerland, Olivia M; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J; Love-Nichols, Jamie; MacDuffie, Katherine E; Miller, Danny E; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L; Parish-Morris, Julia; McWalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A; Dipple, Katrina; Chong, Jessica X; Kruszka, Paul; Bamshad, Michael J

Incidence and Factors Associated With Spontaneous Regression in Head and Neck Lymphatic Malformations

头颈部淋巴管畸形自发消退的发生率及相关因素

Bonilla-Velez, Juliana; Heike, Carrie L; Kessler, Larry G; Wang, Xing; Wenger, Tara L; Ramsey, Bonnie W; Perkins, Jonathan A

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

扩大儿科全基因组测序的应用:来自SeqFirst服务提供商的见解,有助于实现精准基因诊断的公平获取。

Yu, Joon-Ho; MacDuffie, Katherine E; Sommerland, Olivia; Theoryn, Tesla; Murali, Priyanka; Anderson, Kailyn; Sikes, Megan; Kruidenier, Lukas; Gildersleeve, Heidi I S; Scott, Abbey; Buckingham, Kati J; McWalter, Kirsty; Kruszka, Paul; Keefe, Alexandra C; Chong, Jessica X; Veenstra, David L; Dipple, Katrina M; Wenger, Tara; Doherty, Dan; Bamshad, Michael J

Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and Comorbidities

利用MicroNAPS对Robin序列患儿进行标准化分类:综合征和合并症的影响

Resnick, Cory M; Heffernan, Jody E; Jindal, Snigdha; Mehra, Zaara; Ahmad, Irfan; Chaudhari, Bimal; Cielo, Christopher; Deptula, Nicole; Ehsan, Zarmina; Evans, Kelly N; Gogcu, Semsa; Hickey, Scott E; Marschall, Jeffrey S; Menezes, Maithilee; Molter, David; Padula, Michael A; Peterson-Carmichael, Stacey L; Rottgers, Stephen Alex; Runyan, Christopher M; Swanson, Jordan W; Wenger, Tara L; Deek, Andrew

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

TRAF7相关多发性先天性异常-智力障碍综合征的心脏缺陷谱

Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia

病例报告:人工胸腺类器官有助于TP63变异型和严重持续性T细胞淋巴细胞减少症患者的临床决策

Gall, Alevtina; Bosticardo, Marita; Ma, Stacey; Chen, Karin; Amini, Kayla; Pala, Francesca; Delmonte, Ottavia M; Wenger, Tara; Bamshad, Michael; Sleasman, John; Blessing, Matthew; van Oers, Nicolai S C; Notarangelo, Luigi D; de la Morena, M Teresa

Spectrum of Disease in Hospitalized Newborns with Congenital Micrognathia: A Cohort of 3,236 Infants at North American Tertiary-Care Intensive Care Units

先天性小颌畸形住院新生儿的疾病谱:北美三级重症监护病房3236名婴儿队列研究

Padula, Michael A; Naing, Khatija; Wenger, Tara L; Ahmad, Irfan; Coghill, Carl H 3rd; Wild, K Taylor; Rottgers, S Alex; Resnick, Cory M; Goldstein, Jeffrey; Ehsan, Zarmina; Watkins, Donna; Deptula, Nicole; Lai, Kuan-Chi; Lioy, Janet; Gogcu, Semsa; Cielo, Christopher M

Ethical and Legal Issues Surrounding Genetic Testing in the NICU

新生儿重症监护室基因检测相关的伦理和法律问题

Callahan, Katharine P; Clayton, Ellen W; Lemke, Amy A; Chaudhari, Bimal P; Wenger, Tara L; Lyle, Allison N J; Brothers, Kyle B

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

从头突变表明染色质修饰、转录调控和视黄酸信号传导与综合征性颅缝早闭症有关。

Timberlake, Andrew T; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M; Stiegler, Amy L; Boggon, Titus J; Sanyoura, May; Morrow, Michelle; Wenger, Tara L; Fernandes, Erica M; Caluseriu, Oana; Persing, John A; Jin, Sheng Chih; Lifton, Richard P; Kahle, Kristopher T; Kruszka, Paul