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H

Heather Baudet

University of North Carolina
H指数:4
被引数:93

个人简介

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教育背景

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工作经历

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荣誉奖项

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Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-11-010
OAAI
Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer
Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-010
PRE
Groopman, Emily; Goldstein, Jenny; Dickson, Alexa; Zastrow, Diane; Mohan, Shruthi; Thomas-Wilson, Amanda; Caldovic, Ljubica; Kyle, Emily; Yuzyuk, Tatiana; De Biase, Irene; Simpson, Kara; Kanavy, Dona; Spector, Elaine; Pasquali, Marzia; Rehder, Catherine; Stergachis, Andrew; Whirl-Carlo, Michelle; Baudet, Heather; Hung, Christina; Braverman, Nancy E.; Mercimek-Andrews, Saadet; Weaver, Meredith; Craigen, William; Mao, Rong
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

庞贝病的变异分类; ClinGen溶酶体病变异治疗专家小组的ACMG/AMP规范

MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-09-011
PRE
Goldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

先天性代谢错误 (IEM) 的序列变异解释的独特方面: ClinGen IEM工作组和苯丙氨酸羟化酶基因

HUMAN MUTATION
IF3.7
2018-10-1140
OAAI
Zastrow, Diane B.; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A.; Lager, Angela M.; Liu, Jixia; Mangels, Rachel; Dwight, Selina S.; Wright, Matt W.; Dobrowolski, Steven F.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D.; Craigen, William J.; Mao, Rong

研究方向

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R
Rong Mao
H 指数:49论文数:265被引数:1.3万
M
Meredith Weaver
H 指数:12论文数:60被引数:914
S
Shruthi Mohan
H 指数:12论文数:71被引数:694
C
Christina Hung
H 指数:14论文数:59被引数:1,129
T
Tatiana Yuzyuk
H 指数:13论文数:62被引数:588
D
Deeksha Bali
H 指数:47论文数:199被引数:7,874
L
L. Clarke
H 指数:49论文数:269被引数:8,805
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,899
J
Jennifer Goldstein
H 指数:32论文数:111被引数:3,972
E
Emily Groopman
H 指数:19论文数:71被引数:2,347