Curt Scharfe - Publications, H-index & Citations

Curt Scharfe

RTI International

27H指数

82论文数

4.8K被引数

收录论文 40

发表时间

International experiences of genomic newborn screening: Lessons from over 10,800 newborns 国际基因组新生儿筛查经验：来自10,800多名新生儿的研究启示

American Journal of Human Genetics

IF8.1

2026-09-21

OAAI

Zornitza Stark; Sebastian Lunke; François Boemer; Heidi L. Cope; Curt Scharfe; Laurent Servais; Wendy K. Chung

A Systematic Process to Accurately Link Large-Scale Research Consents to State Public Health Newborn Screening Samples 建立准确关联大规模研究知情同意书与州公共卫生新生儿筛查样本的系统化流程

International Journal of Neonatal Screening

IF4

2026-04-14

OAAI

Emily Cheves; Hannah E. Frawley; Angela You Gwaltney; Ana N. Forsythe; Samantha Scott; John Colin Mathews; Jake Dibble; Tanya Reeve; Vesselina Bakalov; Manisha Dass; Heidi L. Cope; Curt Scharfe; Holly Peay

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)苯丙氨酸羟化酶缺乏症的诊断与管理：美国医学遗传学与基因组学学院（ACMG）2023年循证临床指南

Genetics in Medicine

IF6.2

2026-01-06

OAAI

Wendy E. Smith; Susan A. Berry; Kaitlyn Bloom; Christine Brown; Barbara K. Burton; Olivia M. Demarest; Gabrielle P. Jenkins; Jennifer Malinowski; Kim L. McBride; H. Joel Mroczkowski; Curt Scharfe; Jerry Vockley

Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program 接受基因组新生儿筛查正常结果的父母视角：早期检查计划中的混合方法评估

Frontiers in Genetics

IF2.8

2025-12-04

OAAI

Angela Y. Gwaltney; Sean N. Halpin; Samantha Scott; Sara M. Andrews; Katherine C. Okoniewski; Heidi L. Cope; Melissa Raspa; Curt Scharfe; Holly Peay

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning

BMC MEDICAL GENOMICS

IF2

2025-11-19

OAAI

Xie, Yuhan; Peng, Gang; Tikhonova, Irina; Enns, Gregory; Zhao, Hongyu; Cowan, Tina; Scharfe, Curt

GENETICS IN MEDICINE

IF6.2

2025-01-01

PREAI

Smith, Wendy E.; Berry, Susan A.; Bloom, Kaitlyn; Brown, Christine; Burton, Barbara K.; Demarest, Olivia M.; Jenkins, Gabrielle P.; Malinowski, Jennifer; Mcbride, Kim L.; Mroczkowski, H. Joel; Scharfe, Curt; Vockley, Jerry

Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG) (vol 21, pg 1267, 2019)

GENETICS IN MEDICINE

IF6.2

2024-05-01

PREAI

Reddi, Honey, V; Avenarius, Matthew R.; Bean, Lora J. H.; Best, Hunter; Guha, Saurav; Kang, Benjamin E.; Scharfe, Curt; Seifert, Bryce A.; Wakeling, Erin

Association of Maternal Age and Blood Markers for Metabolic Disease in Newborns

METABOLITES

IF3.7

2023-12-20

OAAI

Xie, Yuhan; Peng, Gang; Zhao, Hongyu; Scharfe, Curt

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders NBSTRN工具推进新生儿筛查研究并支持新生儿筛查利益相关者

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2023-10-30

OAAI

Chan, Kee; Hu, Zhanzhi; Bush, Lynn W.; Cope, Heidi; Holm, Ingrid A.; Kingsmore, Stephen F.; Wilhelm, Kevin; Scharfe, Curt; Brower, Amy

Digital assay for rapid electronic quantification of clinical pathogens using DNA nanoballs

SCIENCE ADVANCES

IF12.5

2023-09-08

OAAI

Tayyab, Muhammad; Barrett, Donal; van Riel, Gijs; Liu, Shujing; Reinius, Bjorn; Scharfe, Curt; Griffin, Peter; Steinmetz, Lars M.; Javanmard, Mehdi; Pelechano, Vicent

ACMG STATEMENT Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

GENETICS IN MEDICINE

IF6.2

2023-06-01

OAAI

Pena, Loren D. M.; Burrage, Lindsay C.; Enns, Gregory M.; Esplin, Edward D.; Harding, Cary; Mendell, Jerry R.; Niu, Zhiyv (Neal); Scharfe, Curt; Yu, Timothy; Koeberl, Dwight D.

A systems biology approach identifies the role of dysregulated PRDM6 in the development of hypertension

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2023-02-15

OAAI

Gunawardhana, Kushan L.; Hong, Lingjuan; Rugira, Trojan; Uebbing, Severin; Kucharczak, Joanna; Mehta, Sameet; Karunamuni, Dineth R.; Cabera-Mendoza, Brenda; Gandotra, Neeru; Scharfe, Curt; Polimanti, Renato; Noonan, James P.; Mani, Arya

Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-11-01

OAAI

Peng, Gang; Pakstis, Andrew J.; Gandotra, Neeru; Cowan, Tina M.; Zhao, Hongyu; Kidd, Kenneth K.; Scharfe, Curt

A multipurpose panel of microhaplotypes for use with STR markers in casework

FORENSIC SCIENCE INTERNATIONAL-GENETICS

IF3.1

2022-09-01

OAAI

Kidd, Kenneth K.; Pakstis, Andrew J.; Gandotra, Neeru; Scharfe, Curt; Podini, Daniele