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K

Kristy Lee

University of North Carolina at Chapel Hill
H指数:31
被引数:5,100

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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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

一种基于贝叶斯定量分析的基因特异性变异分类方法：更新的专家小组建议改进了TP53生殖细胞变异在Li-Fraumeni综合征中的分类

Genome Medicine
IF11.2
2025-10-240
OAAI
Cristina Fortuno; Megan N. Frone; Jessica Mester; Miguel de la Hoya; Phuong L. Mai; Tina Pesaran; Maria Isabel Achatz; Rebecca Bassett; Carolina Bustamante; Stephanie Crowley; Kelvin Cesar de Andrade; D. Gareth Evans; Bingjian Feng; Laura Fuqua; Maria Isabel Harrell; Jessica N. Hatton; Robert Huether; Chimene Kesserwan; Kristy Lee; Suzanne P. MacFarland; Jamie L. Maciaszek; Kara Maxwell; Kelly McGoldrick; Maureen Murphy; Bita Nehoray; Judith Penkert; Emilia Modolo Pinto; Sharon E. Plon; Alison Schwartz-Levine; Ashley S. Thompson; Wenyi Wang; Gerard P. Zambetti; Kristin Zelley; Paul A. James; Sharon A. Savage; Christian P. Kratz; Amanda B. Spurdle
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG SF v3.3 临床全外显子和全基因组测序次级发现报告清单：美国医学遗传学与基因组学学院（ACMG）的政策声明

Genetics in Medicine
IF6.2
2025-06-230
PRE
Kristy Lee; Noura S. Abul-Husn; Laura M. Amendola; Kyle B. Brothers; Wendy K. Chung; Michael H. Gollob; Adam S. Gordon; Steven M. Harrison; Ray E. Hershberger; Marilyn Li; Deborah Ondrasik; C. Sue Richards; Andrew Stergachis; Douglas R. Stewart; Christa Lese Martin; David T. Miller;
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined
FRONTIERS IN ONCOLOGY
IF3.3
2024-09-060
OAAI
Shatara, Margaret; Schieffer, Kathleen M.; Melas, Marilena; Varga, Elizabeth A.; Thomas, Diana; Bucknor, Brianna A.; Costello, Heather M.; Wheeler, Gregory; Kelly, Benjamin J.; Miller, Katherine E.; Rodriguez, Diana P.; Mathew, Mariam T.; Lee, Kristy; Crotty, Erin; Leary, Sarah; Paulson, Vera A.; Cole, Bonnie; Abdelbaki, Mohamed S.; Finlay, Jonathan L.; Lazow, Margot A.; Salloum, Ralph; Fouladi, Maryam; Boue, Daniel R.; Mardis, Elaine R.; Cottrell, Catherine E.
Implementing evidence-based assertions of clinical actionability in the context of secondary fi ndings: Updates from the ClinGen Actionability Working Group
GENETICS IN MEDICINE
IF6.2
2024-08-010
PRE
Pak, Christine M.; Gilmore, Marian J.; Bulkley, Joanna E.; Chakraborty, Pranesh; Dagan-Rosenfeld, Orit; Foreman, Ann Katherine M.; Gollob, Michael H.; Jenkins, Charisma L.; Katz, Alexander E.; Lee, Kristy; Meeks, Naomi; O'Daniel, Julianne M.; Posey, Jennifer E.; Rego, Shannon M.; Shah, Neethu; Steiner, Robert D.; Stergachis, Andrew B.; Subramanian, Sai Lakshmi; Trotter, Tracy; Wallace, Kathleen; Williams, Marc S.; Goddard, Katrina A. B.; Buchanan, Adam H.; Manickam, Kandamurugu; Powell, Bradford; Hunter, Jessica Ezzell
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
IF5
2024-03-011
PRE
Ross, Justyne E.; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J.; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; Mcdougal, Dara; Botero, Juliana Perez; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I.; Megy, Karyn; Morange, Pierre -Emmanuel; Morgan, Neil, V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

通过CDH1-specific种系变异管理优化临床护理: 改善临床断言和更新管理指南

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-12-0715
OA
Luo, Xi; Maciaszek, Jamie L.; Thompson, Bryony A.; San Leong, Huei; Dixon, Katherine; Sousa, Sonia; Anderson, Michael; Roberts, Maegan E.; Lee, Kristy; Spurdle, Amanda B.; Mensenkamp, Arjen R.; Brannan, Terra; Pardo, Carolina; Zhang, Liying; Pesaran, Tina; Wei, Sainan; Fasaye, Grace-Ann; Kesserwan, Chimene; Shirts, Brian H.; Davis, Jeremy L.; Oliveira, Carla; Plon, Sharon E.; Schrader, Kasmintan A.; Karam, Rachid
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties
JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2022-09-014
OAAI
Mathew, Mariam T.; Antoniou, Austin; Ramesh, Naveen; Hu, Min; Gaither, Jeffrey; Mouhlas, Danielle; Hashimoto, Sayaka; Humphrey, Maggie; Matthews, Theodora; Hunter, Jesse M.; Reshmi, Shalini; Schultz, Matthew; Lee, Kristy; Pfau, Ruthann; Cottrell, Catherine; McBride, Kim L.; Navin, Nicholas E.; Chaudhari, Bimal P.; Leung, Marco L.
Detection of brain somatic variation in epilepsy-associated developmental lesions
EPILEPSIA
IF6.6
2022-06-2335
OA
Bedrosian, Tracy A.; Miller, Katherine E.; Grischow, Olivia E.; Schieffer, Kathleen M.; LaHaye, Stephanie; Yoon, Hyojung; Miller, Anthony R.; Navarro, Jason; Westfall, Jesse; Leraas, Kristen; Choi, Samantha; Williamson, Rachel; Fitch, James; Kelly, Benjamin J.; White, Peter; Lee, Kristy; McGrath, Sean; Cottrell, Catherine E.; Magrini, Vincent; Leonard, Jeffrey; Pindrik, Jonathan; Shaikhouni, Ammar; Boue, Daniel R.; Thomas, Diana L.; Pierson, Christopher R.; Wilson, Richard K.; Ostendorf, Adam P.; Mardis, Elaine R.; Koboldt, Daniel C.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents
GENETICS IN MEDICINE
IF6.2
2022-06-015
OA
Hunter, Jessica Ezzell; Jenkins, Charisma L.; Bulkley, Joanna E.; Gilmore, Marian J.; Lee, Kristy; Pak, Christine M.; Wallace, Kathleen E.; Buchanan, Adam H.; Foreman, Ann Katherine M.; Freed, Amanda S.; Goehringer, Scott; Manickam, Kandamurugu; Meeks, Naomi J. L.; Ramos, Erin M.; Shah, Neethu; Steiner, Robert D.; Subramanian, Sai Lakshmi; Trotter, Tracy; Webber, Elizabeth M.; Williams, Marc S.; Goddard, Katrina A. B.; Powell, Bradford C.

研究方向

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J
Jonathan S. Berg
H 指数:61论文数:335被引数:2.1万
C
Christa Lese Martin
H 指数:48论文数:162被引数:1.8万
A
Ann Katherine M. Foreman
H 指数:16论文数:71被引数:1,601
R
Ray E. Hershberger
H 指数:73论文数:266被引数:2.4万
S
Sharon E. Plon
H 指数:81论文数:432被引数:2.6万
S
Steven M. Harrison
H 指数:41论文数:133被引数:1.0万
M
Michael H. Gollob
H 指数:56论文数:252被引数:1.5万
J
James P. Evans
H 指数:54论文数:212被引数:1.1万
L
Laura M. Amendola
H 指数:37论文数:145被引数:6,670
J
Julianne O’Daniel
H 指数:31论文数:189被引数:5,723