Sierant, Michael C.; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U.; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; Lopez-Giraldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R.; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C.; Gruber, Peter J.; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J. William; King, Eileen; Srivastava, Deepak; Shen, Yufeng; Porter Jr, George A.; Newburger, Jane W.; Seidman, Jonathan G.; Roberts, Amy E.; Yandell, Mark; Yost, H. Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K.; Gelb, Bruce D.; Seidman, Christine E.; Brueckner, Martina; Lifton, Richard P.

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2025-03-010

OAAI

High-efficiency green catalytic conversion for waste CS2 by non-noble metal cage-based MOFs: an access pathway to high-value thiazolidine-2-thione

GREEN CHEMISTRY

IF9.2

2025-01-010

PRE

A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

IF6.4

2024-08-080

PRE

Potential clinical applications of advanced genomic analysis in cerebral palsy

EBIOMEDICINE

IF10.8

2024-08-010

OAAI

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2024-06-251

PRE

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.

Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency

HEPATOLOGY

IF15.8

2024-04-010

OAAI

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2024-03-110

OAAI

Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D.; Henegariu, Octavian; Jin, Sheng Chih; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K.; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte; Yarman, Yanki; Ercan-encicek, A. Gulhan; Bilguvar, Kaya; Lifton, Richard P.; Moliterno, Jennifer; Louvi, Angeliki; Yuan, Shiaulou; Deniz, Engin; Brueckner, Martina; Gunel, Murat

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

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

BRAIN

IF11.7

2023-09-153

PRE

Almousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C.

Sheng Chih Jin

个人简介

教育背景

工作经历

荣誉奖项

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