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L

Laura V. Milko

University of North Carolina at Chapel Hill
H指数:20
被引数:2,665

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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Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Cope, H.L.; Jalazo, E.R.; Berg, J.S.; Sullivan, J.A.; Kucera, K.S.; Shone, S.M.; Frawley, H.E.; Gwaltney, A.Y.; Forsythe, A.N.; Migliore, B.A.; et al. 扩展基因组新生儿筛查在Early Check计划中的可行性与临床应用价值。Nat. Med. 2025, 31, 3762–3771. [Google Scholar] [CrossRef] [PubMed]

Nature Medicine
IF50
2025-09-050
OAAI
Heidi L. Cope; Elizabeth R. Jalazo; Jonathan S. Berg; Jennifer A. Sullivan; Katerina S. Kucera; Scott M. Shone; Hannah E. Frawley; Angela Y. Gwaltney; Ana N. Forsythe; Brooke A. Migliore; Becca Wright; Rebecca R. Moultrie; Laura V. Milko; Rebekah S. Zimmerman; Paul Kruszka; Sharon F. Suchy; Amber Begtrup; Katherine G. Langley; Kristin G. Monaghan; Christina Kraczkowski; Adam J. Guenzel; Kirsty McWalter; Kathleen S. Hruska; Donald B. Bailey; Anne C. Wheeler; Melissa Raspa; Cynthia M. Powell; Holly L. Peay
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
GENETICS IN MEDICINE
IF6.2
2024-12-012
PRE
Cope, Heidi L.; Milko, Laura, V; Jalazo, Elizabeth R.; Crissman, Blythe G.; Foreman, Ann Katherine M.; Powell, Bradford C.; DeJong, Neal A.; Hunter, Jessica Ezzell; Boyea, Beth Lincoln; Forsythe, Ana N.; Wheeler, Anne C.; Zimmerman, Rebekah S.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Monaghan, Kristin G.; Kraczkowski, Christina; Hruska, Kathleen S.; Kruszka, Paul; Kucera, Katerina S.; Berg, Jonathan S.; Powell, Cynthia M.; Peay, Holly L.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

新生儿筛查的基因组测序: NC NEXUS项目的结果

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-10-0178
OAAI
Roman, Tamara S.; Crowley, Stephanie B.; Roche, Myra, I; Foreman, Ann Katherine M.; O'Daniel, Julianne M.; Seifert, Bryce A.; Lee, Kristy; Brandt, Alicia; Gustafson, Chelsea; DeCristo, Daniela M.; Strande, Natasha T.; Ramkissoon, Lori; Milko, Laura, V; Owen, Phillips; Roy, Sayanty; Xiong, Mai; Paquin, Ryan S.; Butterfield, Rita M.; Lewis, Megan A.; Souris, Katherine J.; Bailey, Donald B., Jr.; Rini, Christine; Booker, Jessica K.; Powell, Bradford C.; Weck, Karen E.; Powell, Cynthia M.; Berg, Jonathan S.
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
JOURNAL OF PEDIATRICS
IF3.5
2019-06-0158
OAAI
Milko, Laura, V; O'Daniel, Julianne M.; DeCristo, Daniela M.; Crowley, Stephanie B.; Foreman, Ann Katherine M.; Wallace, Kathleen E.; Mollison, Lonna F.; Strande, Natasha T.; Girnary, Zahra S.; Boshe, Lacey J.; Aylsworth, Arthur S.; Gucsavas-Calikoglu, Muge; Frazier, Dianne M.; Vora, Neeta L.; Roche, Myra, I; Powell, Bradford C.; Powell, Cynthia M.; Berg, Jonathan S.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

临床基因组资源 (ClinGen) 临床领域工作组的发展: 经验教训和未来计划

GENETICS IN MEDICINE
IF6.2
2019-04-0117
OAAI
Milko, Laura, V; Funke, Birgit H.; Hershberger, Ray E.; Azzariti, Danielle R.; Lee, Kristy; Riggs, Erin R.; Rivera-Munoz, Edgar A.; Weaver, Meredith A.; Niehaus, Annie; Currey, Erin L.; Craigen, William J.; Mao, Rong; Offit, Kenneth; Steiner, Robert D.; Martin, Christa L.; Rehm, Heidi L.; Watson, Michael S.; Ramos, Erin M.; Plon, Sharon E.; Berg, Jonathan S.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
CIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
2019-02-01308
OAAI
Ingles, Jodie; Goldstein, Jennifer; Thaxton, Courtney; Caleshu, Colleen; Corty, Edward W.; Crowley, Stephanie B.; Dougherty, Kristen; Harrison, Steven M.; McGlaughon, Jennifer; Milko, Laura, V; Morales, Ana; Seifert, Bryce A.; Strande, Natasha; Thomson, Kate; van Tintelen, J. Peter; Wallace, Kathleen; Walsh, Roddy; Wells, Quinn; Whiff, Nicola; Witkowski, Leora; Semsarian, Christopher; Ware, James S.; Hershberger, Ray E.; Funke, Birgit
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

PTEN变体治疗的基因特异性标准: ClinGen PTEN专家小组的建议

HUMAN MUTATION
IF3.7
2018-10-11116
OAAI
Mester, Jessica L.; Ghosh, Rajarshi; Pesaran, Tina; Huether, Robert; Karam, Rachid; Hruska, Kathleen S.; Costa, Helio A.; Lachlan, Katherine; Ngeow, Joanne; Barnholtz-Sloan, Jill; Sesock, Kaitlin; Hernandez, Felicia; Zhang, Liying; Milko, Laura; Plon, Sharon E.; Hegde, Madhuri; Eng, Charis
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

ClinGen变体管理专家小组的经验和疾病的标准化过程以及ACMG/AMP序列变体解释指南的基因水平规范

HUMAN MUTATION
IF3.7
2018-10-11137
OAAI
Rivera-Munoz, Edgar A.; Milko, Laura V.; Harrison, Steven M.; Azzariti, Danielle R.; Kurtz, C. Lisa; Lee, Kristy; Mester, Jessica L.; Weaver, Meredith A.; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E.; Mao, Rong; Steiner, Robert D.; Vincent, Lisa M.; Martin, Christa L.; Plon, Sharon E.; Ramos, Erin; Rehm, Heidi L.; Watson, Michael; Berg, Jonathan S.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2017-06-01420
OAAI
Strande, Natasha T.; Riggs, Erin Rooney; Buchanan, Adam H.; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S.; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A.; Sneddon, Tam P.; Wright, Matt W.; Milko, Laura V.; Cherry, J. Michael; Giovanni, Monica A.; Murray, Michael F.; O'Daniel, Julianne M.; Ramos, Erin M.; Santani, Avni B.; Scott, Alan F.; Plon, Sharon E.; Rehm, Heidi L.; Martin, Christa L.; Berg, Jonathan S.
Newborn Sequencing in Genomic Medicine and Public Health

基因组医学和公共卫生中的新生儿测序

PEDIATRICS
IF6.4
2017-02-01183
OAAI
Berg, Jonathan S.; Agrawal, Pankaj B.; Bailey, Donald B., Jr.; Beggs, Alan H.; Brenner, Steven E.; Brower, Amy M.; Cakici, Julie A.; Ceyhan-Birsoy, Ozge; Chan, Kee; Chen, Flavia; Currier, Robert J.; Dukhovny, Dmitry; Green, Robert C.; Harris-Wai, Julie; Holm, Ingrid A.; Iglesias, Brenda; Joseph, Galen; Kingsmore, Stephen F.; Koenig, Barbara A.; Kwok, Pui-Yan; Lantos, John; Leeder, Steven J.; Lewis, Megan A.; McGuire, Amy L.; Milko, Laura V.; Mooney, Sean D.; Parad, Richard B.; Pereira, Stacey; Petrikin, Joshua; Powell, Bradford C.; Powell, Cynthia M.; Puck, Jennifer M.; Rehm, Heidi L.; Risch, Neil; Roche, Myra; Shieh, Joseph T.; Veeraraghavan, Narayanan; Watson, Michael S.; Willig, Laurel; Yu, Timothy W.; Urv, Tiina; Wise, Anastasia L.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
GENETICS IN MEDICINE
IF6.2
2016-12-0183
OAAI
Hunter, Jessica Ezzell; Irving, Stephanie A.; Biesecker, Leslie G.; Buchanan, Adam; Jensen, Brian; Lee, Kristy; Martin, Christa Lese; Milko, Laura; Muessig, Kristin; Niehaus, Annie D.; O'Daniel, Julianne; Piper, Margaret A.; Ramos, Erin M.; Schully, Sheri D.; Scott, Alan F.; Slavotinek, Anne; Sobreira, Nara; Strande, Natasha; Weaver, Meredith; Webber, Elizabeth M.; Williams, Marc S.; Berg, Jonathan S.; Evans, James P.; Goddard, Katrina A. B.

研究方向

暂未获取到该数据
J
Jonathan S. Berg
H 指数:61论文数:335被引数:2.1万
J
Julianne O’Daniel
H 指数:31论文数:189被引数:5,769
N
Natasha T. Strande
H 指数:33论文数:104被引数:5,402
C
Cynthia M. Powell
H 指数:38论文数:158被引数:5,050
K
Kristy Lee
H 指数:31论文数:142被引数:5,164
K
Karen E. Weck
H 指数:51论文数:197被引数:8,525
B
Bradford C. Powell
H 指数:24论文数:96被引数:2,865
S
Sharon E. Plon
H 指数:81论文数:432被引数:2.6万
H
Heidi L. Rehm
H 指数:100论文数:529被引数:7.3万
C
Christa Lese Martin
H 指数:48论文数:162被引数:1.8万