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Tara Wenger

university of washington
H指数:24
被引数:2,145

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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实施:来自SeqFirst提供者的见解,以促进精准遗传诊断的公平获取。

2025-06-030
OAAI
Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes

特雷彻-柯林斯综合征和纳格尔综合征新生儿的诊疗与管理及预后

2025-05-210
PRE
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
2025-02-011
OAAI
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
2024-03-110
OAAI
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
2023-05-0111
OAAI
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
2023-05-016
OAAI
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
2022-05-0111
OAAI
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B的变异导致自闭症谱系障碍,失用症和对疼痛不敏感的神经发育障碍

2021-08-0115
OAAI
Targeted long-read sequencing identifies missing disease-causing variation
2021-08-01137
OAAI