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L

Lina Ghaloul-Gonzalez

university of pittsburgh school of medicine
H指数:15
被引数:888

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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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-012
OAAI
Pan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Williams, Sarah Drewes; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P. A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E. H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
GENETICS IN MEDICINE
IF6.2
2023-04-0114
OAAI
Miyake, Christina Y.; Lay, Erica J.; Soler-Alfonso, Claudia; Glinton, Kevin E.; Houck, Kimberly M.; Tosur, Mustafa; Moran, Nancy E.; Stephens, Sara B.; Scaglia, Fernando; Howard, Taylor S.; Kim, Jeffrey J.; Pham, Tam Dam; Valdes, Santiago O.; Li, Na; Murali, Chaya N.; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M.; Kannankeril, Prince J.; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J.; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A.; Ehsan, Saad A.; Azamian, Mahshid S.; Lalani, Seema R.
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2022-01-0110
OAAI
Kernan, Kate F.; Ghaloul-Gonzalez, Lina; Vockley, Jerry; Lamb, Janette; Hollingshead, Deborah; Chandran, Uma; Sethi, Rahil; Park, Hyun-Jung; Berg, Robert A.; Wessel, David; Pollack, Murray M.; Meert, Kathleen L.; Hall, Mark W.; Newth, Christopher J. L.; Lin, John C.; Doctor, Allan; Shanley, Tom; Cornell, Tim; Harrison, Rick E.; Zuppa, Athena F.; Banks, Russel; Reeder, Ron W.; Holubkov, Richard; Notterman, Daniel A.; Dean, J. Michael; Carcillo, Joseph A.
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

通过CRISPR/Cas9基因组编辑产生的苯丙酮尿症猪模型

JCI INSIGHT
IF6.1
2020-10-1528
OA
Koppes, Erik A.; Redel, Bethany K.; Johnson, Marie A.; Skvorak, Kristen J.; Ghaloul-Gonzalez, Lina; Yates, Megan E.; Lewis, Dale W.; Gollin, Susanne M.; Wu, Yijen L.; Christ, Shawn E.; Yerle, Martine; Leshinski, Angela; Spate, Lee D.; Benne, Joshua A.; Murphy, Stephanie L.; Samuel, Melissa S.; Walters, Eric M.; Hansen, Sarah A.; Wells, Kevin D.; Lichter-Konecki, Uta; Wagner, Robert A.; Newsome, Joseph T.; Dobrowolski, Steven F.; Vockley, Jerry; Prather, Randall S.; Nicholls, Robert D.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-05-0184
OAAI
Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Ostern, Rune; Houge, Gunnar; Hafstrom, Maria; Fassi, Emily; Houlden, Henry; Wassink-Ruiter, Jolien S. Klein; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M., Jr.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2015-07-01110
OAAI
Haack, Tobias B.; Staufner, Christian; Koepke, Marlies G.; Straub, Beate K.; Koelker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, Ivo; McKiernan, Patrick J.; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Kuehr, Joachim; Himbert, Urban; Taylor, Robert W.; Distelmaier, Felix; Vockley, Jerry; Ghaloul-Gonzalez, Lina; Zschocke, Johannes; Kremer, Laura S.; Graf, Elisabeth; Schwarzmayr, Thomas; Bader, Daniel M.; Gagneur, Julien; Wieland, Thomas; Terrile, Caterina; Strom, Tim M.; Meitinger, Thomas; Hoffmann, Georg F.; Prokisch, Holger

研究方向

暂未获取到该数据
J
Jerry Vockley
H 指数:78论文数:494被引数:1.8万
A
Al‐Walid Mohsen
H 指数:27论文数:98被引数:2,571
A
Anuradha Karunanidhi
H 指数:13论文数:52被引数:566
K
Kate F. Kernan
H 指数:17论文数:57被引数:3,171
J
Joseph A. Carcillo
H 指数:83论文数:581被引数:3.8万
D
Derek C. Angus
H 指数:141论文数:801被引数:17.9万
Y
Yijen Wu
H 指数:29论文数:144被引数:3,754
V
Vincenzo Salpietro
H 指数:40论文数:198被引数:6,170
M
Miguel Reyes‐Múgica
H 指数:37论文数:341被引数:5,894
K
Kevin E. Glinton
H 指数:15论文数:50被引数:646