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J

Jennifer Goldstein

University of North Carolina
H指数:32
被引数:3,972
浏览量:0

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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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
HUMAN GENETICS
IF3.6
2025-03-010
OA
Jain, Shantanu; Trinidad, Marena; Nguyen, Thanh Binh; Jones, Kaiya; Neto, Santiago Diaz; Ge, Fang; Glagovsky, Ailin; Jones, Cameron; Moran, Giankaleb; Wang, Boqi; Rahimi, Kobra; Calici, Suemeyra Zeynep; Cedillo, Luis R.; Berardelli, Silvia; Ozden, Buse; Chen, Ken; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Rana, Sadhna; Pradhan, Swatantra; Srinivasan, Rajgopal; Sajeed, Rakshanda; Joshi, Dinesh; Faraggi, Eshel; Jernigan, Robert; Kloczkowski, Andrzej; Xu, Jierui; Song, Zigang; Ozkan, Selen; Padilla, Natalia; de la Cruz, Xavier; Acuna-Hidalgo, Rocio; Grafmueller, Andrea; Barron, Laura T. Jimenez; Manfredi, Matteo; Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita; Sun, Yuanfei; Zhu, Shaowen; Shen, Yang; Pucci, Fabrizio; Rooman, Marianne; Cia, Gabriel; Raimondi, Daniele; Hermans, Pauline; Kwee, Sofia; Chen, Ella; Astore, Courtney; Kamandula, Akash; Pejaver, Vikas; Ramola, Rashika; Velyunskiy, Michelle; Zeiberg, Daniel; Mishra, Reet; Sterling, Teague; Goldstein, Jennifer L.; Lugo-Martinez, Jose; Kazi, Sufyan; Li, Sindy; Long, Kinsey; Brenner, Steven E.; Bakolitsa, Constantina; Radivojac, Predrag; Suhr, Dean; Suhr, Teryn; Clark, Wyatt T.
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-02-010
PRE
Goldstein, Jennifer; Balog, Amanda; Bali, Deeksha; Reeves, Emily E. B.; Demirbas, Didem; Fernandez, Raquel; Giliberto, Florencia; Groopman, Emily; Hung, Christina; Lacaria, Melanie; Mao, Rong; Mohan, Shruthi; Peck, Dawn; Pollard, Laura; Rehder, Catherine; Savatt, Juliann; Schmidt, Ryan; St Clair, Pepper; Vairo, Filippo; White, Amy; Wood, Tim; Clarke, Lorne A.
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
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms
ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE
IF6
2024-08-231
PRE
Wright, Matt W.; Thaxton, Courtney L.; Nelson, Tristan; DiStefano, Marina T.; Savatt, Juliann M.; Brush, Matthew H.; Cheung, Gloria; Mandell, Mark E.; Wulf, Bryan; Ward, T. J.; Goehringer, Scott; O'Neill, Terry; Weller, Phil; Preston, Christine G.; Keseler, Ingrid M.; Goldstein, Jennifer L.; Strande, Natasha T.; Mcglaughon, Jennifer; Azzariti, Danielle R.; Cordova, Ineke; Dziadzio, Hannah; Babb, Lawrence; Riehle, Kevin; Milosavljevic, Aleksandar; Martin, Christa Lese; Rehm, Heidi L.; Plon, Sharon E.; Berg, Jonathan S.; Riggs, Erin R.; Klein, Teri E.
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
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

基因策展联盟: 协调基因疾病证据资源的全球努力

GENETICS IN MEDICINE
IF6.2
2022-08-0170
OAAI
DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S.; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A.; Coffey, Alison J.; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C.; Einhorn, Yaron; Firth, Helen, V; Fitzpatrick, David R.; Foulger, Rebecca E.; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R.; Leigh, Sarah E.; Leong, Ivone U. S.; Maddirevula, Sateesh; Martin, Christa L.; McDonagh, Ellen M.; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M.; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M.; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S.; Weller, Phillip; Williams, Eleanor; Wright, Caroline F.; Yates, Thabo Michael; Rehm, Heidi L.

研究方向

暂未获取到该数据
D
Deeksha Bali
H 指数:47论文数:199被引数:7,874
C
Catherine Rehder
H 指数:30论文数:129被引数:4,339
P
Priya S. Kishnani
H 指数:75论文数:762被引数:2.2万
E
Emily Groopman
H 指数:19论文数:71被引数:2,347
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
C
Christina Hung
H 指数:14论文数:59被引数:1,129
R
Rong Mao
H 指数:49论文数:265被引数:1.3万
S
Shruthi Mohan
H 指数:12论文数:71被引数:694
T
Tatiana Yuzyuk
H 指数:13论文数:62被引数:588