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K

Kevin E. Glinton

baylor college of medicine
H指数:15
被引数:646

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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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

致病性XPO1变异导致显性神经发育障碍

Genetics in Medicine
IF6.2
2025-08-130
OAAI
Amber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency

BPTF杂合不足个体的周期性呕吐综合征

Pediatric Neurology
IF2.1
2025-06-130
PRE
Alessandro Ferretti; Margherita Furlan; Kevin E. Glinton; Christina D. Fenger; Felix Boschann; Shimriet Zeidler; Corinna Stoltenburg; Tahsin Stefan Barakat; Julian A. Martinez-Agosto; Orrin Devinsky; Francesca Furia; Guido Rubboli; Anteo Di Napoli; Giulia Bellone; Silvia Furio; Marisa Piccirillo; Maurizio Mennini; Giovanni Di Nardo; Pasquale Parisi; Rikke S. Møller; Elena Gardella
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
PEDIATRIC NEUROLOGY
IF2.1
2024-09-012
PRE
Ferretti, Alessandro; Furlan, Margherita; Glinton, Kevin E.; Fenger, Christina D.; Boschann, Felix; Amlie-Wolf, Louise; Zeidler, Shimriet; Moretti, Raffaella; Stoltenburg, Corinna; Tarquinio, Daniel C.; Furia, Francesca; Parisi, Pasquale; Rubboli, Guido; Devinsky, Orrin; Mignot, Cyril; Gripp, Karen W.; Moller, Rikke S.; Yang, Yaping; Stankiewicz, Pawel; Gardella, Elena
Improving access to exome sequencing in a medically underserved population through the Texome Project
GENETICS IN MEDICINE
IF6.2
2024-06-010
OAAI
Vuocolo, Blake; German, Ryan J.; Lalani, Seema R.; Murali, Chaya N.; Bacino, Carlos A.; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D.; Mclean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E.; Robak, Laurie; Nagamani, Sandesh C. S.; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K. Jordan; Carter, Kent; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F.
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.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANG02 deficiency related metabolic crises
HEART RHYTHM
IF5.7
2022-10-0115
OAAI
Miyake, Christina Y.; Lay, Erica J.; Beach, Cheyenne M.; Ceresnak, Scott R.; Delauz, Caridad M.; Howard, Taylor S.; Janson, Christopher M.; Jardine, Kate; Kannankeril, Prince J.; Kava, Maina; Kim, Jeffrey J.; Liberman, Leonardo; Macicek, Scott L.; Pham, Tam Dam; Robertson, Terry; Valdes, Santiago O.; Webster, Gregory; Stephens, Sara B.; Milewicz, Diana M.; Azamian, Mahshid; Ehsan, Saad A.; Houck, Kimberly M.; Soler-Alfonso, Claudia; Glinton, Kevin E.; Tosur, Mustafa; Li, Na; Xu, Weiyi; Lalani, Seema R.; Zhang, Lilei

研究方向

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S
Sarah H. Elsea
H 指数:48论文数:579被引数:7,779
S
Seema R. Lalani
H 指数:61论文数:816被引数:1.2万
M
Mahshid S. Azamian
H 指数:32论文数:116被引数:3,515
L
Lilei Zhang
H 指数:24论文数:70被引数:1,963
E
Erica Julianne Lay
H 指数:7论文数:29被引数:832
C
Claudia Soler‐Alfonso
H 指数:16论文数:54被引数:773
V
V. Reid Sutton
H 指数:60论文数:293被引数:1.3万
K
Kimberly Houck
H 指数:8论文数:23被引数:183
M
Mustafa Tosur
H 指数:23论文数:126被引数:1,602
H 指数:0论文数:8被引数:81