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C

Christina A. Gurnett

children's hospital of philadelphia

57H指数
207论文数
1.1W被引数
收录论文 85
发表时间
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Specific, Replicable Behavioral and Neural Correlates of Sensory Over-Responsivity in Childhood儿童感觉过度反应的具体、可复现的行为和神经相关因素
errJournal of the American Academy of Child and Adolescent Psychiatry
IF9.5
err2026-08-13
err0
errOAAI
errHexin Luo; Andrew W. Kim; Anna M. Abbacchi; John N. Constantino; Christina A. Gurnett; Joan L. Luby; Michael T. Perino; Deanna M. Barch; Chad M. Sylvester; M. Catalina Camacho; Rebecca F. Schwarzlose
err分享
err收藏
Energy metabolism, adenosine, and glutamate signaling reprogramming by decanoic acid in Glut1 disorder syndrome癸酸通过重编程能量代谢、腺苷和谷氨酸信号通路治疗葡萄糖转运蛋白1障碍综合征
errEpilepsia Open
IF2.9
err2026-04-28
err0
errOAAI
errErwann Pain; Yatra Kapatel; Pankaj K. Singh; Katie Lloyd Jones; Jamuna Selvakumaran; Alberto Malerba; Walter Lucchesi; Tricia Rutherford; Christina A. Gurnett; Matthew C. Walker; Robin S. B. Williams
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err收藏
Developing a genetic return of results service core开发遗传结果回报服务核心
errJournal of Clinical and Translational Science
IF2
err2025-11-17
err0
errOAAI
errMckenzie, Jennifer A.; Mcroy, Erin; Bowling, Kevin M.; De Luque, Jorge Luis Granadillo; Mozersky, Jessica; Linnenbringer, Erin; Baldridge, Dustin; Heusel, Jonathan W.; Neidich, Julie A.; Cashen, Amanda F.; Bierut, Laura J.; Hartz, Sarah M.; Gurnett, Christina A.
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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes全基因组测序揭示了关于9p染色体综合征在个体和群体层面的见解
errGenome Medicine
IF11.2
err2025-10-26
err0
errOAAI
errYingxi Wang; Eleanor I. Sams; Rachel Slaugh; Sandra Crocker; Emily Cordova Hurtado; Sophia Tracy; Ying-Chen Claire Hou; Christopher Markovic; Kostandin Valle; Victoria Tate; Khadija Belhassan; Elizabeth Appelbaum; Titilope Akinwe; Rodrigo T. Starosta; Yang Cao; Amber Neilson; Yu Liu; Nathaniel Jensen; Reza Ghasemi; Tina Lindsay; Juana Manuel; Sophia Couteranis; Milinn Kremitzki; Jack Ustanik; Thomas Antonacci; Jeffrey K. Ng; Andrew Emory; Laura Metz; Tracie DeLuca; Katherine N. Lyons; Toni Sinnwell; Brianne Thomeczek; Kymme Wang; Nick Sisneros; Megha Muraleedharan; Anantha Kethireddy; Marco Corbo; Harsha Gowda; Katherine A. King; Christina A. Gurnett; Susan K. Dutcher; Catherine Gooch; Yang E. Li; Matthew W. Mitchell; Kevin A. Peterson; Amjad Horani; Jill A. Rosenfeld; Weimin Bi; Pawel Stankiewicz; Hsiao-Tuan Chao; Jennifer E. Posey; Christopher M. Grochowski; Zain Dardas; Erik G. Puffenberger; Christopher E. Pearson; Frank Kooy; Dale Annear; A. Micheil Innes; Michael Heinz; Richard Head; Robert Fulton; Stephan Toutain; Lucinda Antonacci-Fulton; Xiaoxia Cui; Robi D. Mitra; F. Sessions Cole; Julie Neidich; Patricia I. Dickson; Jeffrey Milbrandt; Tychele N. Turner
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Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosisFNDC1中的罕见错义变异与重度青少年特发性脊柱侧弯相关。
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-04-29
err0
PREAI
errCharng, Wu-Lin; Haller, Gabe; Whittle, Julia; Nikolov, Momchil; Avery, Addison; Morcuende, Jose; Giampietro, Philip; Raggio, Cathy; Miller, Nancy; Justice, Anne E.; Strande, Natasha T.; Seeley, Mark; Bodian, Dale L.; Wise, Carol A.; Sepich, Diane S.; Dobbs, Matthew B.; Gurnett, Christina A.
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Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer蛋白质组水平上对神经发育障碍和癌症中差异错义变异聚集性的评估
errCELL GENOMICS
IF9
err2025-04-01
err0
PREAI
errNg, Jeffrey K.; Chen, Yilin; Akinwe, Titilope M.; Heins, Hillary B.; Mehinovic, Elvisa; Chang, Yoonhoo; Gutmann, David H.; Gurnett, Christina A.; Payne, Zachary L.; Manuel, Juana G.; Karchin, Rachel; Turner, Tychele N.
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err收藏
Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients
errPEDIATRIC NEUROLOGY
IF2.1
err2025-04-01
err0
PREAI
errCole, Jordan J.; Sellitto, Angela D.; Baratta, Laura Rosa; Huecker, Julia B.; Balls-Berry, Joyce (Joy) E.; Gurnett, Christina A.
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Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy病例报告：使用氟西汀/去甲氟西汀针对导致发育性癫痫性脑病的KCNC2变异进行靶向治疗
errFRONTIERS IN PHARMACOLOGY
IF4.8
err2025-01-15
err0
errOAAI
errLi, Ping; Butler, Alice; Zhou, Yu; Magleby, Karl L.; Gurnett, Christina A.; Salkoff, Lawrence
err分享
err收藏
Sequence variants in HECTD1 result in a variable neurodevelopmental disorderHECTD1中的序列变异导致可变的神经发育障碍
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle (vol 156, e202413604, 2024)
errJOURNAL OF GENERAL PHYSIOLOGY
IF2.9
err2024-11-13
err0
errOAAI
errMead, Andrew F.; Wood, Neil B.; Nelson, Shane R.; Palmer, Bradley M.; Yang, Lin; Previs, Samantha Beck; Ploysangngam, Angela; Kennedy, Guy G.; Mcadow, Jennifer F.; Tremble, Sarah M.; Zimmermann, Marcus A.; Cipolla, Marilyn J.; Ebert, Alicia M.; Johnson, Aaron N.; Gurnett, Christina A.; Previs, Michael J.; Warshaw, David M.
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err收藏
Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle
errJOURNAL OF GENERAL PHYSIOLOGY
IF2.9
err2024-10-07
err2
errOAAI
errMead, Andrew F.; Wood, Neil B.; Nelson, Shane R.; Palmer, Bradley M.; Yang, Lin; Previs, Samantha Beck; Ploysangngam, Angela; Kennedy, Guy G.; McAdow, Jennifer F.; Tremble, Sarah M.; Zimmermann, Marcus A.; Cipolla, Marilyn J.; Ebert, Alicia M.; Johnson, Aaron N.; Gurnett, Christina A.; Previs, Michael J.; Warshaw, David M.
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err收藏
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
errANNALS OF NEUROLOGY
IF7.7
err2024-09-25
err1
errOAAI
errSrivastava, Siddharth; Cole, Jordan J.; Cohen, Julie S.; Chopra, Maya; Smith, Hadley Stevens; Deardorff, Matthew A.; Pedapati, Ernest; Corner, Brian; Anixt, Julia S.; Jeste, Shafali; Sahin, Mustafa; Gurnett, Christina A.; Campbell, Colleen A.
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Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-04-25
err1
errOAAI
errCharng, Wu-Lin; Nikolov, Momchil; Shrestha, Isabel; Seeley, Mark A.; Josyula, Navya Shilpa; Justice, Anne E.; Dobbs, Matthew B.; Gurnett, Christina A.
err分享
err收藏
The Brain Gene Registry: a data snapshot
errJOURNAL OF NEURODEVELOPMENTAL DISORDERS
IF4
err2024-04-17
err0
errOAAI
errBaldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M.; Hauck, Rachel; Sveden, Abigail; Constantino, John N.; Piven, Joseph; Gurnett, Christina A.; Chopra, Maya; Hazlett, Heather; Payne, Philip R. O.
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err收藏
Clinical variants paired with phenotype: A rich resource for brain gene curation
errGENETICS IN MEDICINE
IF6.2
err2024-03-01
err4
errOAAI
errChopra, Maya; Savatt, Juliann M.; Bingaman, Taylor I.; Good, Molly E.; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison M.; Vanhoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina A.; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott L.; Sahin, Mustafa; Payne, Philip R. O.; Riggs, Erin Rooney; Constantino, John N.
err分享
err收藏
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
errELIFE
IF0
err2024-01-26
err0
errOAAI
errYu, Hao; Khanshour, Anas M.; Ushiki, Aki; Otomo, Nao; Koike, Yoshinao; Einarsdottir, Elisabet; Fan, Yanhui; Antunes, Lilian; Kidane, Yared H.; Cornelia, Reuel; Sheng, Rory R.; Zhang, Yichi; Pei, Jimin; Grishin, Nick, V; Evers, Bret M.; Cheung, Jason Pui Yin; Herring, John A.; Terao, Chikashi; Song, You-qiang; Gurnett, Christina A.; Gerdhem, Paul; Ikegawa, Shiro; Rios, Jonathan J.; Ahituv, Nadav; Wise, Carol A.
err分享
err收藏
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyCUX1-related神经发育障碍: 深入了解表型-基因型谱和潜在病理
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-08-30
err5
errOAAI
errOppermann, Henry; Marcos-Graneda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoe; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Abou Jamra, Rami; Nieto, Marta; Tumer, Zeynep; Platzer, Konrad
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err收藏
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-07-18
err4
PREAI
errRebello, Denise; Wohler, Elizabeth; Erfani, Vida; Li, Guozhuang; Aguilera, Alexya N.; Santiago-Cornier, Alberto; Zhao, Sen; Hwang, Steven W.; Steiner, Robert D.; Zhang, Terry Jianguo; Gurnett, Christina A.; Raggio, Cathleen; Wu, Nan; Sobreira, Nara; Giampietro, Philip F.; Ciruna, Brian
err分享
err收藏
Building School-Academic Partnerships to Implement COVID-19 Testing in Underserved Populations
errPEDIATRICS
IF6.4
err2023-07-01
err2
PREAI
errGoldman, Jennifer L.; Kalu, Ibukunoluwa C.; Schuster, Jennifer E.; Erickson, Tyler; Mast, Dana Keener; Zimmerman, Kanecia; Benjamin, Daniel K.; Kalb, Luther G.; Gurnett, Christina; Newland, Jason G.; Sherby, Michael; Godambe, Maya; Shinde, Nidhi; Watterson, Treymayne; Walsh, Tyler; Foxe, John; Zand, Martin; Dewhurst, Stephen; Coller, Ryan; DeMuri, Gregory P.; Archuleta, Shannon; Ko, Linda K.; Inkelas, Moira; Manuel, Vladimir; Lee, Rebecca; Oh, Hyunsung; Murugan, Vel; Kramer, Joanna; Okihiro, May; Gwynn, Lisa; Pulgaron, Elizabeth; McCulloh, Russell; Broadhurst, Jana; McDaniels-Davidson, Corinne; Kiene, Susan; Oren, Eyal; Wu, Yelena; Wetter, David W.; Stump, Tammy; Brookhart, M. Alan; Fist, Alex; Haroz, Emily
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err收藏
Recommendations for SARS-CoV-2 Testing in Children With Disabilities and Medical Complexity
errPEDIATRICS
IF6.4
err2023-07-01
err3
errOAAI
errGemmell, Michael; Sherby, Michael R.; Walsh, Tyler J.; Kalb, Luther G.; Johnson, Sara B.; Coller, Ryan J.; DeMuri, Gregory P.; Nuthals, Erin; McBride, Joseph; Newland, Jason G.; Gurnett, Christina A.
err分享
err收藏

研究方向

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合作学者
合作期刊
K
Kāri Stefánsson
H 指数: 219 · 论文数: 1.2K
H
Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
S
Stephen W. Scherer
H 指数: 161 · 论文数: 1.1K
A
Alison Goate
H 指数: 155 · 论文数: 1.2K
D
David M. Sabatini
H 指数: 149 · 论文数: 533
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