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C

Catherine Rehder

Duke University Health System
H指数:30
被引数:4,358

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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Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina

行动中的早期检测：在北卡罗来纳州发展和完善庞贝病新生儿筛查

Molecular Genetics and Metabolism
IF3.5
2026-08-280
PRE
Molly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants

低磷酸酯酶症患者携带ALPL变异体的生化表型

JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2025-10-010
OAAI
Montero-Lopez, Rodrigo; Farman, Mariam R.; Hogler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; Tauer, Josephine T.; Kishnani, Priya S.; Hogler, Wolfgang
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.
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
The Global ALPL gene variant classification project: Dedicated to deciphering variants
BONE
IF3.6
2024-01-0123
OAAI
Farman, Mariam R.; Rehder, Catherine; Malli, Theodora; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Webersinke, Gerald; Barbazza, Francesca; John, Lisa K.; Mudiyanselage, Sewmi M. A. Delana; Hoegler, Florian; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; El-Gazzar, Ahmed; Kishnani, Priya S.; Hoegler, Wolfgang
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
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

解释和报告大范围的纯合子和可疑的血缘/单亲二体，2021修订: 美国医学遗传学和基因组学学院 (ACMG) 的技术标准

GENETICS IN MEDICINE
IF6.2
2022-02-0124
OA
Gonzales, Patrick R.; Andersen, Erica F.; Brown, Teneille R.; Horner, Vanessa L.; Horwitz, Juli; Rehder, Catherine W.; Rudy, Natasha L.; Robin, Nathaniel H.; Thorland, Erik C.
Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy

评估GSP肌酸激酶-MM测定和评估新生儿，患者和人为干血斑的ck-mm稳定性，以筛查Duchenne肌营养不良症

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2022-01-2811
OAAI
Migliore, Brooke; Zhou, Linran; Duparc, Martin; Robles, Veronica; Rehder, Catherine; Peay, Holly; Kucera, Katerina
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

一名自愿的全州新生儿脊髓性肌萎缩症筛查飞行员: 早期检查的结果

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2021-03-2122
OAAI
Kucera, Katerina S.; Taylor, Jennifer L.; Robles, Veronica R.; Clinard, Kristin; Migliore, Brooke; Boyea, Beth Lincoln; Okoniewski, Katherine C.; Duparc, Martin; Rehder, Catherine W.; Shone, Scott M.; Fan, Zheng; Raspa, Melissa; Peay, Holly L.; Wheeler, Anne C.; Powell, Cynthia M.; Bailey, Donald B., Jr.; Gehtland, Lisa M.

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:7,891
P
Priya S. Kishnani
H 指数:75论文数:762被引数:2.2万
J
Jennifer Goldstein
H 指数:32论文数:111被引数:3,982
Z
Zoheb B. Kazi
H 指数:16论文数:53被引数:910
E
Endi Wang
H 指数:29论文数:209被引数:3,222
K
Katerina S. Kucera
H 指数:12论文数:35被引数:1,199
E
Erin Huggins
H 指数:7论文数:35被引数:416
B
Brooke Migliore
H 指数:4论文数:10被引数:65
S
Scott M. Shone
H 指数:13论文数:30被引数:851
H
Hutton M. Kearney
H 指数:27论文数:91被引数:5,818