DeSpenza Jr, Tyrone; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L.; Desmet, Nicole; Dang, Huy Q.; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y.; Dennis, Evan; Mehta, Neel H.; Duy, Phan Q.; Shimelis, Hermela; Walsh, Lauren K.; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M. R.; Constable, R. Todd; Hoffman, Ellen J.; Lifton, Richard P.; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L.; Jin, Sheng Chih; Kahle, Kristopher T.; Luikart, Bryan W.

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

BRAIN

IF11.7

2024-06-041

PRE

Duy, Phan Q.; Jux, Bettina; Zhao, Shujuan; Mekbib, Kedous Y.; Dennis, Evan; Dong, Weilai; Nelson-Williams, Carol; Mehta, Neel H.; Shohfi, John P.; Juusola, Jane; Allington, Garrett; Smith, Hannah; Marlin, Sandrine; Belhous, Kahina; Monteleone, Berrin; Schaefer, G. Bradley; Pisarska, Margareta D.; Vasquez, Jaime; Estrada-Veras, Juvianee, I; Keren, Boris; Mignot, Cyril; Flore, Leigh A.; Palafoll, Irene, V; Alper, Seth L.; Lifton, Richard P.; Haider, Shozeb; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kolanus, Waldemar; Kahle, Kristopher T.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

BRAIN

IF11.7

2023-12-214

PRE

Singh, Amrita K.; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y.; Shohfi, John P.; Duy, Phan Q.; DeSpenza, Tyrone; Furey, Charuta G.; Reeves, Benjamin C.; Smith, Hannah; Sousa, Andre M. M.; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R. A.; Alper, Seth L.; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K.; Lifton, Richard P.; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T.

Human genetics and molecular genomics of Chiari malformation type 1

Trends in Molecular Medicine

IF13.8

2023-12-013

PRE

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

NATURE COMMUNICATIONS

IF15.7

2023-11-1710

OAAI

Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

PEDIATRIC NEUROLOGY

IF2.1

2023-11-011

PRE

Ahmad, Natalie; Fazeli, Walid; Schliesske, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Danger, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

NATURE MEDICINE

IF50

2023-03-066

PRE

Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; Lopez-Giraldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T.

Variation in medical humanities program mission statements in United States and Canadian Medical Schools

美国和加拿大医学院的医学人文课程任务说明的变化

MEDICAL TEACHER

IF4.4

2022-11-304

PRE

Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

精准医学时代的计算基因组学: 在变异分析和基因治疗中的应用

JOURNAL OF PERSONALIZED MEDICINE

IF3

2022-01-2712

OAAI