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B

Bradford C. Powell

Genetics
H指数:24
被引数:2,858

个人简介

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荣誉奖项

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Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene

长读长测序揭示了一名神经发育障碍患者的复杂重排，涉及ARID1B基因

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
IF1.7
2025-09-010
PRE
Sneddon, Tam P.; Melville, Scott A.; Xiong, Mai; Foss, Kimberly; Cardwell, Emma B.; Rafferty, Kelly; Weck, Karen E.; Berglind, Ana; Heinzen, Erin L.; Tedder, Matt L.; Gucsavas-Calikoglu, Muge; Shiloh-Malawsky, Yael; Fan, Zheng (Jane); Powell, Bradford C.; Hunter, Senyene E.
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.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-09-0119
OAAI
Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L.; Wang, Harold Z.; Currall, Benjamin B.; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E.; Whelan, Christopher W.; Hao, Stephanie P.; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L.; Zhao, Xuefang; Austin-Tse, Christina A.; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S.; Lucente, Diane; Gauthier, Laura D.; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E.; Mackenzie, Tippi C.; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C.; Brandt, Alicia; Vetrini, Francesco; Divito, Michelle; Sanders, Stephan J.; Macarthur, Daniel G.; Hodge, Jennelle C.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Vora, Neeta L.; Levy, Brynn; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E.
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-07-016
OAAI
Muenzen, Kathleen D.; Amendola, Laura M.; Kauffman, Tia L.; Mittendorf, Kathleen F.; Bensen, Jeannette T.; Chen, Flavia; Green, Richard; Powell, Bradford C.; Kvale, Mark; Angelo, Frank; Farnan, Laura; Fullerton, Stephanie M.; Robinson, Jill O.; Li, Tianran; Murali, Priyanka; Lawlor, James M. J.; Ou, Jeffrey; Hindorff, Lucia A.; Jarvik, Gail P.; Crosslin, David R.
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.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

在九项基因组实施研究中使用acmg-amp变体解释指南进行变体分类一致性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-11-0159
OAAI
Amendola, Laura M.; Muenzen, Kathleen; Biesecker, Leslie G.; Bowling, Kevin M.; Cooper, Greg M.; Dorschner, Michael O.; Driscoll, Catherine; Foreman, Ann Katherine M.; Golden-Grant, Katie; Greally, John M.; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J.; Kenny, Eimear E.; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C.; Rehm, Heidi L.; Rolf, Bradley; Roman, Tamara S.; Van Ziffle, Jessica; Guha, Saurav; Abhyankar, Avinash; Crosslin, David; Venner, Eric; Yuan, Bo; Zouk, Hana; Jarvik, Gail P.
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.

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
A
Ann Katherine M. Foreman
H 指数:16论文数:71被引数:1,619
C
Cynthia M. Powell
H 指数:38论文数:158被引数:5,046
N
Natasha T. Strande
H 指数:33论文数:104被引数:5,392
N
Neeta L. Vora
H 指数:30论文数:187被引数:3,693
K
Kelly L. Gilmore
H 指数:11论文数:59被引数:763
M
Myra I. Roche
H 指数:25论文数:80被引数:2,285
K
Kristy Lee
H 指数:31论文数:142被引数:5,152
K
Karen E. Weck
H 指数:51论文数:197被引数:8,519
K
Kirk C. Wilhelmsen
H 指数:57论文数:313被引数:1.9万