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C

Cynthia M. Powell

University of North Carolina at Chapel Hill
H指数:38
被引数:5,045

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
The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG)

残余新生儿筛查干血斑的重要性，2025年修订版：美国医学遗传学与基因组学学会（ACMG）立场声明

Genetics in Medicine
IF6.2
2025-06-100
PRE
Nancy C. Rose; Michele Caggana; Mary Beth Dinulos; Leslie Francis; Michele A. Lloyd-Puryear; Andrea Matthews; Michelle L. McClure; Cynthia M. Powell; Changrui Xiao;
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.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-10-243
OAAI
Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
2023-07-1120
OA
Maron, Jill L.; Kingsmore, Stephen; Gelb, Bruce D.; Vockley, Jerry; Wigby, Kristen; Bragg, Jennifer; Stroustrup, Annemarie; Poindexter, Brenda; Suhrie, Kristen; Kim, Jae H.; Diacovo, Thomas; Powell, Cynthia M.; Trembath, Andrea; Guidugli, Lucia; Ellsworth, Katarzyna A.; Reed, Dallas; Kurfiss, Anne; Breeze, Janis L.; Trinquart, Ludovic; Davis, Jonathan M.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-01-0126
OAAI
Zhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; de Lima, Ariadne Ramalho; Ferreira, Barbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; Potocki, Lorraine; Chung, Wendy K.; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A.; Mason, Kati; Pollack, Lynda C.; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S.; Leahy, Peter; Powell, Cynthia M.; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R.; Odone Filho, Vicente; Muzny, Donna M.; Gibbs, Richard A.; Posey, Jennifer E.; Liu, Pengfei; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B.
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing An Interim Report of the Genomic Medicine for III Neonates and Infants (GEMINI) Study
JAMA PEDIATRICS
IF18
2021-05-0337
OA
Maron, Jill L.; Kingsmore, Stephen F.; Wigby, Kristen; Chowdhury, Shimul; Dimmock, David; Poindexter, Brenda; Suhrie, Kristen; Vockley, Jerry; Diacovo, Thomas; Gelb, Bruce D.; Stroustrup, Annemarie; Powell, Cynthia M.; Trembath, Andrea; Gallen, Matthew; Mullen, Thomas E.; Tanpaiboon, Pranoot; Reed, Dallas; Kurfiss, Anne; Davis, Jonathan M.
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.
Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

通过直接邮件和电子邮件与新妈妈联系: 早期检查研究中的招聘

CTS-CLINICAL AND TRANSLATIONAL SCIENCE
IF2.8
2021-02-1311
OAAI
Paquin, Ryan S.; Lewis, Megan A.; Harper, Blake A.; Moultrie, Rebecca R.; Gwaltney, Angela; Gehtland, Lisa M.; Peay, Holly L.; Duparc, Martin; Raspa, Melissa; Wheeler, Anne C.; Powell, Cynthia M.; King, Nancy M. P.; Shone, Scott M.; Bailey, Donald B., Jr.
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.

研究方向

暂未获取到该数据
D
Donald B. Bailey
H 指数:73论文数:385被引数:1.6万
J
Jonathan S. Berg
H 指数:61论文数:335被引数:2.1万
M
Myra I. Roche
H 指数:25论文数:80被引数:2,285
B
Bradford C. Powell
H 指数:24论文数:96被引数:2,858
A
Ann Katherine M. Foreman
H 指数:16论文数:71被引数:1,619
N
Natasha T. Strande
H 指数:33论文数:104被引数:5,391
M
Megan A. Lewis
H 指数:46论文数:315被引数:8,600
A
Anne Wheeler
H 指数:29论文数:165被引数:2,662
R
Ryan S. Paquin
H 指数:16论文数:60被引数:945
C
Christine Rini
H 指数:44论文数:257被引数:8,536